Annotations – Comparative Gene Ontology (GO) Analysis – Page Two

Continued from page one…

Gene Info Sum Func Function Gene Ontology Biocarta Pathways Kegg Pathways
Unique id
: H001323_01

Name:
Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide
UniGene:
Hs.74405

Gene Symbol:
YWHAQ

Locus Link:
10971

Chromosome:
2;22;17;10
Cytoband:
2p25.1

Sum Func:
This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. 		SP Function:
activates tyrosine and tryptophan hydroxylases in the presence of ca(2+)/calmodulin-dependent protein kinase ii, and strongly activates protein kinase c. is probably a multifunctional regulator of the cell signaling processes mediated by both kinases. 		Gene Ontology:

biological process:
exocytosis

molecular function:
protein domain specific binding

molecular function:
protein kinase C inhibitor activity

biological process:
regulation of cell cycle

 BioCarta Pathways:

1: Cell Cycle: G2/M Checkpoint

 KEGG Pathways:
Unique id
: H001593_01

Name:
Diacylglycerol kinase, delta 130kDa
UniGene:
Hs.471675

Gene Symbol:
DGKD

Locus Link:
8527

Chromosome:
2
Cytoband:
2q37.1

Sum Func:
This gene encodes a cytoplasmic enzyme which phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids which act as second messengers in signaling cascades. Their cellular concentrations are regulated by this enzyme, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. 		SP Function: Gene Ontology:

biological process:
cell growth

cellular component:
cytoplasm

biological process:
development

molecular function:
diacylglycerol binding

molecular function:
diacylglycerol kinase activity

molecular function:
diacylglycerol kinase activity

biological process:
diacylglycerol metabolism

biological process:
epidermal growth factor receptor signaling pathway

biological process:
immune response

biological process:
intracellular signaling cascade

molecular function:
protein binding

biological process:
protein homooligomerization

biological process:
protein kinase C activation

biological process:
protein kinase C activation

biological process:
second-messenger-mediated signaling

 BioCarta Pathways:
 KEGG Pathways:

1: Glycerolipid Metabolism

2: Phosphatidylinositol Signaling System
Unique id
: H001620_01

Name:
Diacylglycerol kinase, alpha 80kDa
UniGene:
Hs.524488

Gene Symbol:
DGKA

Locus Link:
1606

Chromosome:
12
Cytoband:
12q13.3

Sum Func:
The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. 		SP Function:
upon cell stimulation converts the second messenger diacylglycerol into phosphatidate, initiating the resynthesis of phosphatidylinositols and attenuating protein kinase c activity. 		Gene Ontology:

molecular function:
calcium ion binding

cellular component:
cellular_component unknown

molecular function:
diacylglycerol binding

molecular function:
diacylglycerol kinase activity

molecular function:
diacylglycerol kinase activity

molecular function:
diacylglycerol kinase activity

biological process:
intracellular signaling cascade

biological process:
intracellular signaling cascade

biological process:
protein kinase C activation

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:

1: Glycerolipid Metabolism

2: Phosphatidylinositol Signaling System
Unique id
: H001680_01

Name:
Diacylglycerol kinase, zeta 104kDa
UniGene:
Hs.502461

Gene Symbol:
DGKZ

Locus Link:
8525

Chromosome:
11
Cytoband:
11p11.2

Sum Func:
The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. 		SP Function:
displays a strong preference for 1,2-diacylglycerols over 1,3-diacylglycerols, but lacks substrate specificity among molecular species of long chain diacylglycerols. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
diacylglycerol binding

molecular function:
diacylglycerol kinase activity

biological process:
intracellular signaling cascade

cellular component:
nucleus

biological process:
protein kinase C activation

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:

1: Glycerolipid Metabolism

2: Phosphatidylinositol Signaling System
Unique id
: H002346_01

Name:
Phospholipase C, beta 2
UniGene:
Hs.355888

Gene Symbol:
PLCB2

Locus Link:
5330

Chromosome:
15
Cytoband:
15q15

Sum Func: SP Function:
the production of the second messenger molecules diacylglycerol (dag) and inositol 1,4,5-trisphosphate (ip3) is mediated by activated phosphatidylinositol-specific phospholipase c enzymes. 		Gene Ontology:

molecular function:
hydrolase activity

biological process:
intracellular signaling cascade

biological process:
lipid catabolism

molecular function:
phosphoinositide phospholipase C activity

biological process:
phospholipase C activation

biological process:
phospholipid metabolism

molecular function:
signal transducer activity

 BioCarta Pathways:
 KEGG Pathways:

1: Inositol Phosphate Metabolism

2: Phosphatidylinositol Signaling System
Unique id
: H002347_01

Name:
Leukotriene B4 receptor
UniGene:
Hs.525256

Gene Symbol:
LTB4R

Locus Link:
1241

Chromosome:
14
Cytoband:
14q11.2-q12

Sum Func: SP Function:
receptor for extracellular atp > utp and adp. the activity of this receptor is mediated by g proteins which activate a phosphatidylinositol-calcium second messenger system. may be the cardiac p2y receptor involved in the regulation of cardiac muscle contraction through modulation of l-type calcium currents. is a receptor for leukotriene b4, a potent chemoattractant involved in inflammation and immune response. 		Gene Ontology:

biological process:
G-protein signaling, coupled to IP3 second messenger (phospholipase C activating)

biological process:
immune response

biological process:
inflammatory response

cellular component:
integral to plasma membrane

molecular function:
leukotriene receptor activity

biological process:
muscle contraction

molecular function:
nucleotide binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002377_01

Name:
Tachykinin receptor 1
UniGene:
Hs.200262

Gene Symbol:
TACR1

Locus Link:
6869

Chromosome:
2
Cytoband:
2p12

Sum Func:
This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, also referred to as neurokinin 1. This receptor is also involved in the mediation of phosphatidylinositol metabolism of substance P. 		SP Function:
this is a receptor for the tachykinin neuropeptide substance p. it is probably associated with g proteins that activate a phosphatidylinositol-calcium second messenger system. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
G-protein signaling, coupled to IP3 second messenger (phospholipase C activating)

biological process:
detection of abiotic stimulus

biological process:
inflammatory response

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

biological process:
mechanosensory behavior

cellular component:
plasma membrane

molecular function:
rhodopsin-like receptor activity

molecular function:
tachykinin receptor activity

molecular function:
tachykinin receptor activity

biological process:
tachykinin signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002384_01

Name:
Endothelin 2
UniGene:
Hs.1407

Gene Symbol:
EDN2

Locus Link:
1907

Chromosome:
1
Cytoband:
1p34

Sum Func: SP Function:
endothelins are endothelium-derived vasoconstrictor peptides. 		Gene Ontology:

biological process:
cell-cell signaling

cellular component:
extracellular region

molecular function:
growth factor activity

biological process:
pathogenesis

biological process:
protein kinase C activation

biological process:
regulation of blood pressure

biological process:
regulation of vasoconstriction

cellular component:
soluble fraction

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002487_01

Name:
Complement component 5 receptor 1 (C5a ligand)
UniGene:
Hs.2161

Gene Symbol:
C5R1

Locus Link:
728

Chromosome:
19
Cytoband:
19q13.3-q13.4

Sum Func: SP Function:
receptor for the chemotactic and inflammatory peptide anaphylatoxin c5a. this receptor stimulates chemotaxis, granule enzyme release and superoxide anion production. 		Gene Ontology:

molecular function:
C5a anaphylatoxin receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
activation of MAPK

biological process:
cellular defense response

biological process:
chemotaxis

biological process:
cytosolic calcium ion concentration elevation

cellular component:
integral to plasma membrane

biological process:
phospholipase C activation

molecular function:
rhodopsin-like receptor activity

biological process:
sensory perception of chemical stimulus

biological process:
signal transduction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003007_01

Name:
Calcitonin receptor
UniGene:
Hs.489127

Gene Symbol:
CALCR

Locus Link:
799

Chromosome:
7
Cytoband:
7q21.3

Sum Func: SP Function:
this is a receptor for calcitonin. the activity of this receptor is mediated by g proteins which activate adenylyl cyclase. the calcitonin receptor is thought to couple to the heterotrimeric guanosine triphosphate-binding protein that is sensitive to cholera toxin. 		Gene Ontology:

molecular function:
G-protein coupled receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
adenylate cyclase activation

molecular function:
calcitonin receptor activity

cellular component:
integral to plasma membrane

biological process:
ossification

molecular function:
phosphoinositide phospholipase C activity

biological process:
phospholipase C activation

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003130_01

Name:
Interleukin 8 receptor, beta
UniGene:
Hs.846

Gene Symbol:
IL8RB

Locus Link:
3579

Chromosome:
2
Cytoband:
2q35

Sum Func:
The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. 		SP Function:
receptor to interleukin-8, which is a powerful neutrophils chemotactic factor. binding of il-8 to the receptor causes activation of neutrophils. this response is mediated via a g-protein that activate a phosphatidylinositol-calcium second messenger system. this receptor binds to il-8 with a high affinity and to gro/mgsa and nap-2 also with a high affinity. 		Gene Ontology:

biological process:
G-protein signaling, coupled to IP3 second messenger (phospholipase C activating)

biological process:
cell motility

biological process:
cell proliferation

biological process:
cellular defense response

biological process:
chemotaxis

cellular component:
cytoplasm

biological process:
inflammatory response

cellular component:
integral to plasma membrane

molecular function:
interleukin-8 receptor activity

molecular function:
rhodopsin-like receptor activity

molecular function:
signal transducer activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003668_01

Name:
Histamine receptor H1
UniGene:
Hs.1570

Gene Symbol:
HRH1

Locus Link:
3269

Chromosome:
3
Cytoband:
3p25

Sum Func:
Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. This gene was thought to be intronless until recently. The protein encoded by this gene is an integral membrane protein and belongs to the family 1 of G protein-coupled receptors. It mediates the contraction of smooth muscles, increase in capillary permeability due to contraction of terminal venules, catecholamine release from adrenal medulla, and mediates neurotransmission in the central nervous system. 		SP Function:
in peripheral tissues, the h1 subclass of histamine receptors mediates the contraction of smooth muscles, increase in capillary permeability due to contraction of terminal venules, and catecholamine release from adrenal medulla, as well as mediating neurotransmission in the central nervous system. 		Gene Ontology:

biological process:
G-protein signaling, coupled to IP3 second messenger (phospholipase C activating)

molecular function:
histamine receptor activity

biological process:
inflammatory response

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003869_01

Name:
Growth associated protein 43
UniGene:
Hs.134974

Gene Symbol:
GAP43

Locus Link:
2596

Chromosome:
3
Cytoband:
3q13.1-q13.2

Sum Func:
The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This encoded protein is considered a crucial component of an effective regenerative response in the nervous system. 		SP Function:
this protein is associated with nerve growth. it is a major component of the motile "growth cones" that form the tips of elongating axons. 		Gene Ontology:

molecular function:
calmodulin binding

cellular component:
membrane

biological process:
neurogenesis

biological process:
protein kinase C activation

biological process:
regulation of cell growth

biological process:
response to wounding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H004053_01

Name:
Neuromedin U receptor 1
UniGene:
Hs.471619

Gene Symbol:
NMUR1

Locus Link:
10316

Chromosome:
2
Cytoband:
2q37.1

Sum Func: SP Function: Gene Ontology:

biological process:
calcium ion transport

biological process:
calcium-mediated signaling

biological process:
chloride transport

biological process:
inositol phosphate-mediated signaling

cellular component:
integral to membrane

cellular component:
membrane fraction

molecular function:
neuromedin U receptor activity

biological process:
neuropeptide signaling pathway

biological process:
phospholipase C activation

molecular function:
receptor activity

molecular function:
rhodopsin-like receptor activity

biological process:
secretory pathway

biological process:
smooth muscle contraction

biological process:
transmission of nerve impulse

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H004099_01

Name:
Phosphatidic acid phosphatase type 2A
UniGene:
Hs.435122

Gene Symbol:
PPAP2A

Locus Link:
8611

Chromosome:
5
Cytoband:
5q11

Sum Func:
The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is an integral membrane glycoprotein, and has been shown to be a surface enzyme that plays an active role in the hydrolysis and uptake of lipids from extracellular space. The expression of this gene is found to be regulated by androgen in a prostatic adenocarcinoma cell line. At least two alternatively spliced transcript variants encoding distinct isoforms have been described. 		SP Function: Gene Ontology:

biological process:
androgen receptor signaling pathway

molecular function:
hydrolase activity

cellular component:
integral to plasma membrane

cellular component:
membrane fraction

biological process:
negative regulation of cell proliferation

molecular function:
phosphatidate phosphatase activity

biological process:
phospholipid dephosphorylation

biological process:
protein kinase C activation

biological process:
regulation of lipid metabolism

 BioCarta Pathways:
 KEGG Pathways:

1: Glycerolipid Metabolism

2: Phospholipid Degradation
Unique id
: H004486_01

Name:
Endothelial differentiation, G-protein-coupled receptor 6
UniGene:
Hs.515061

Gene Symbol:
EDG6

Locus Link:
8698

Chromosome:
19
Cytoband:
19p13.3

Sum Func:
Endothelial differentiation, G-protein-coupled receptor 6 may regulate lymphocyte cell signaling. It is a member of the lysophospholipid/lysosphingolipid receptor family. 		SP Function: Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
cytosolic calcium ion concentration elevation

biological process:
immune response

cellular component:
integral to plasma membrane

molecular function:
lipid binding

molecular function:
lysosphingolipid and lysophosphatidic acid receptor activity

biological process:
phospholipase C activation

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H005413_01

Name:
Hypothetical protein FLJ10842
UniGene:
Hs.260238

Gene Symbol:
FLJ10842

Locus Link:
55750

Chromosome:
7;12;2
Cytoband:
7q34

Sum Func: SP Function: Gene Ontology:

molecular function:
diacylglycerol kinase activity

biological process:
protein kinase C activation

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006279_01

Name:
Phospholipase C, epsilon 1
UniGene:
Hs.20022

Gene Symbol:
PLCE1

Locus Link:
51196

Chromosome:
10
Cytoband:
10q23

Sum Func:
PLCE1 belongs to the phospholipase family that catalyzes the hydrolysis of polyphosphoinositides such as phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P2) to generate the second messengers Ins(1,4,5)P3 and diacylglycerol. These products initiate a cascade of intracellular responses that result in cell growth and differentiation and gene expression.[supplied by OMIM] 		SP Function: Gene Ontology:

molecular function:
Ras interactor activity

molecular function:
Ras interactor activity

biological process:
Ras protein signal transduction

biological process:
activation of MAPK

biological process:
activation of MAPK

biological process:
calcium-mediated signaling

biological process:
calcium-mediated signaling

biological process:
cell proliferation

biological process:
cell proliferation

biological process:
cytoskeleton organization and biogenesis

biological process:
cytoskeleton organization and biogenesis

cellular component:
cytosol

cellular component:
cytosol

biological process:
cytosolic calcium ion concentration elevation

biological process:
cytosolic calcium ion concentration elevation

biological process:
diacylglycerol biosynthesis

biological process:
diacylglycerol biosynthesis

molecular function:
enzyme binding

molecular function:
enzyme binding

biological process:
epidermal growth factor receptor signaling pathway

biological process:
epidermal growth factor receptor signaling pathway

molecular function:
guanyl nucleotide exchange factor activity

molecular function:
guanyl nucleotide exchange factor activity

biological process:
heart development

biological process:
heart development

biological process:
inositol phosphate-mediated signaling

biological process:
inositol phosphate-mediated signaling

biological process:
lipid metabolism

cellular component:
membrane fraction

molecular function:
phosphoinositide phospholipase C activity

biological process:
phospholipid metabolism

biological process:
phospholipid metabolism

cellular component:
plasma membrane

cellular component:
plasma membrane

biological process:
protein kinase C activation

biological process:
protein kinase C activation

molecular function:
receptor signaling protein activity

molecular function:
receptor signaling protein activity

biological process:
regulation of G-protein coupled receptor protein signaling pathway

biological process:
regulation of G-protein coupled receptor protein signaling pathway

biological process:
regulation of Ras protein signal transduction

biological process:
regulation of cell growth

biological process:
regulation of cell growth

biological process:
regulation of protein kinase activity

biological process:
regulation of protein kinase activity

biological process:
regulation of smooth muscle contraction

biological process:
regulation of smooth muscle contraction

biological process:
small GTPase mediated signal transduction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006300_01

Name:
Ceramide kinase
UniGene:
Hs.200668

Gene Symbol:
CERK

Locus Link:
64781

Chromosome:
22
Cytoband:
22q13.31

Sum Func: SP Function: Gene Ontology:

molecular function:
calcium- and calmodulin-dependent protein kinase activity

molecular function:
ceramide kinase activity

biological process:
ceramide metabolism

molecular function:
diacylglycerol kinase activity

cellular component:
integral to membrane of membrane fraction

molecular function:
kinase activity

molecular function:
magnesium ion binding

biological process:
protein kinase C activation

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H010976_01

Name:
Guanine nucleotide binding protein (G protein), alpha 15 (Gq class)
UniGene:
Hs.73797

Gene Symbol:
GNA15

Locus Link:
2769

Chromosome:
19
Cytoband:
19p13.3

Sum Func: SP Function:
guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
GTP binding

molecular function:
GTPase activity

biological process:
cytosolic calcium ion concentration elevation

cellular component:
heterotrimeric G-protein complex

biological process:
muscarinic acetylcholine receptor, phospholipase C activating pathway

biological process:
phospholipase C activation

cellular component:
plasma membrane

biological process:
protein amino acid ADP-ribosylation

molecular function:
signal transducer activity

biological process:
signal transduction

 BioCarta Pathways:

1: fMLP induced chemokine gene expression in HMC-1 cells

 KEGG Pathways:
Unique id
: H011336_01

Name:
Guanine nucleotide binding protein (G protein), q polypeptide
UniGene:
Hs.269782

Gene Symbol:
GNAQ

Locus Link:
2776

Chromosome:
9
Cytoband:
9q21

Sum Func:
Guanine nucleotide-binding proteins are a family of heterotrimeric proteins that couple cell surface, 7-transmembrane domain receptors to intracellular signaling pathways. Receptor activation catalyzes the exchange of GTP for GDP bound to the inactive G protein alpha subunit resulting in a conformational change and dissociation of the complex. The G protein alpha and beta-gamma subunits are capable of regulating various cellular effectors. Activation is terminated by a GTPase intrinsic to the G-alpha subunit. G-alpha-q is the alpha subunit of one of the heterotrimeric GTP-binding proteins that mediates stimulation of phospholipase C-beta (MIM 600230).[supplied by OMIM] 		SP Function:
guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
GTP binding

molecular function:
GTPase activity

biological process:
blood coagulation

cellular component:
cytoplasm

cellular component:
heterotrimeric G-protein complex

biological process:
phospholipase C activation

cellular component:
plasma membrane

biological process:
protein amino acid ADP-ribosylation

molecular function:
signal transducer activity

biological process:
signal transduction

 BioCarta Pathways:

1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling

2: CCR3 signaling in Eosinophils

3: Pertussis toxin-insensitive CCR5 Signaling in Macrophage

4: Thrombin signaling and protease-activated receptors

5: Effects of calcineurin in Keratinocyte Differentiation

6: CXCR4 Signaling Pathway

7: Signaling Pathway from G-Protein Families

8: PKC-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase

9: Activation of PKC through G protein coupled receptor

10: Links between Pyk2 and Map Kinases

11: G-Protein Signaling Through Tubby Proteins

12: Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells

 KEGG Pathways:
Unique id
: H013869_01

Name:
Glutamate receptor, metabotropic 5
UniGene:
Hs.147361

Gene Symbol:
GRM5

Locus Link:
2915

Chromosome:
11
Cytoband:
11q14.3

Sum Func:
L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternative splice variants of GRM8 have been described but their full-length nature has not been determined. 		SP Function:
receptor for glutamate. the activity of this receptor is mediated by a g-protein that activates a phosphatidylinositol- calcium second messenger system and generates a calcium-activated chloride current. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

cellular component:
integral to plasma membrane

biological process:
metabotropic glutamate receptor, phospholipase C activating pathway

molecular function:
metabotropic glutamate, GABA-B-like receptor activity

biological process:
synaptic transmission

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H015734_01

Name:
Sphingosine kinase 2
UniGene:
Hs.528006

Gene Symbol:
SPHK2

Locus Link:
56848

Chromosome:
19
Cytoband:
19q13.2

Sum Func: SP Function: Gene Ontology:

molecular function:
ATP binding

molecular function:
Ras interactor activity

biological process:
anti-apoptosis

biological process:
cell proliferation

cellular component:
cytosol

molecular function:
diacylglycerol kinase activity

molecular function:
kinase activity

cellular component:
membrane fraction

molecular function:
protein binding

biological process:
protein kinase C activation

molecular function:
sphinganine kinase activity

biological process:
sphinganine-1-phosphate biosynthesis

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H016485_01

Name:
Sphingosine kinase 1
UniGene:
Hs.68061

Gene Symbol:
SPHK1

Locus Link:
8877

Chromosome:
17
Cytoband:
17q25.2

Sum Func:
Sphingosine-1-phosphate (SPP) is a novel lipid messenger with both intracellular and extracellular functions. Intracellularly, it regulates proliferation and survival, and extracellularly, it is a ligand for EDG1 (MIM 601974). Various stimuli increase cellular levels of SPP by activation of sphingosine kinase (SPHK), the enzyme that catalyzes the phosphorylation of sphingosine. Competitive inhibitors of SPHK block formation of SPP and selectively inhibit cellular proliferation induced by a variety of factors, including platelet-derived growth factor (e.g., MIM 173430) and serum.[supplied by OMIM] 		SP Function: Gene Ontology:

molecular function:
D-erythro-sphingosine kinase activity

cellular component:
cytosol

molecular function:
diacylglycerol kinase activity

biological process:
intracellular signaling cascade

molecular function:
magnesium ion binding

cellular component:
membrane fraction

biological process:
protein kinase C activation

biological process:
sphingoid catabolism

 BioCarta Pathways:

1: Phospholipids as signaling intermediaries

 KEGG Pathways:
Unique id
: H001908_01

Name:
Discoidin domain receptor family, member 2
UniGene:
Hs.275757

Gene Symbol:
DDR2

Locus Link:
4921

Chromosome:
1
Cytoband:
1q12-q23

Sum Func:
Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation and metabolism. In several cases the biochemical mechanism by which RTKs transduce signals across the membrane has been shown to be ligand induced receptor oligomerization and subsequent intracellular phosphorylation. This autophosphorylation leads to phosphorylation of cytosolic targets as well as association with other molecules, which are involved in pleiotropic effects of signal transduction. RTK's have a tripartite structure with extracellular, transmembrane and cytoplasmic regions. There are several subclasses of RTKs and DDR2 belongs to a novel subclass. The deduced amino acid sequence has a unique extracellular region encompassing a factor VIII-like domain, not previously described for RTKs. 		SP Function:
this tyrosine kinase receptor for fibrillar collagen mediates fibroblast migration and proliferation. contributes to cutaneous wound healing (by similarity). 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell adhesion

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H001990_01

Name:
Activin A receptor, type II
UniGene:
Hs.470171

Gene Symbol:
ACVR2

Locus Link:
92

Chromosome:
2
Cytoband:
2q22.2-q23.3

Sum Func:
Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type II receptor, and its sequence is 99% identical to that of the mouse type II receptor gene. 		SP Function:
receptor for activin a, activin b and inhibin a. involved in transmembrane signaling. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

molecular function:
transforming growth factor beta receptor activity

biological process:
transmembrane receptor protein serine/threonine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002029_01

Name:
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
UniGene:
Hs.306251

Gene Symbol:
ERBB3

Locus Link:
2065

Chromosome:
12
Cytoband:
12q13

Sum Func:
This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. 		SP Function:
binds and is activated by neuregulins and ntak. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
epidermal growth factor receptor activity

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002040_01

Name:
Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)
UniGene:
Hs.77432

Gene Symbol:
EGFR

Locus Link:
1956

Chromosome:
7;X
Cytoband:
7p12

Sum Func: SP Function:
isoform 2/truncated isoform may act as an antagonist. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell proliferation

cellular component:
cytoskeleton

cellular component:
endosome

molecular function:
epidermal growth factor receptor activity

biological process:
epidermal growth factor receptor signaling pathway

cellular component:
integral to plasma membrane

biological process:
negative regulation of cell cycle

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002106_01

Name:
EPH receptor B6
UniGene:
Hs.380089

Gene Symbol:
EPHB6

Locus Link:
2051

Chromosome:
7
Cytoband:
7q33-q35

Sum Func:
Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The ephrin receptor encoded by this gene lacks the kinase activity of most receptor tyrosine kinases and binds to ephrin-B ligands. 		SP Function:
kinase-defective receptor for members of the ephrin-b family. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
ephrin receptor activity

cellular component:
integral to membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002119_01

Name:
Fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
UniGene:
Hs.264887

Gene Symbol:
FGFR1

Locus Link:
2260

Chromosome:
8
Cytoband:
8p11.2-p11.1

Sum Func:
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene can lead to Pfeiffer syndrome and Jackson-Weiss syndrome. The genomic organization of this gene is very similar to family members 2-4, encompassing 19 exons that are subject to complex alternative splicing, which allows for structural, tissue expression and ligand affinity variations among the isoforms. 		SP Function:
receptor for basic fibroblast growth factor. a shorter form of the receptor could be a receptor for acidic fgf (afgf). 		Gene Ontology:

molecular function:
ATP binding

biological process:
MAPKKK cascade

molecular function:
fibroblast growth factor receptor activity

biological process:
fibroblast growth factor receptor signaling pathway

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
skeletal development

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002140_01

Name:
Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)
UniGene:
Hs.350321

Gene Symbol:
RET

Locus Link:
5979

Chromosome:
10;19
Cytoband:
10q11.2

Sum Func:
This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. 		SP Function:
probable receptor with tyrosine-protein kinase activity; important for development. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
ATP binding

molecular function:
cAMP-dependent protein kinase activity

cellular component:
cAMP-dependent protein kinase complex

molecular function:
cAMP-dependent protein kinase regulator activity

molecular function:
calcium ion binding

biological process:
cell growth and/or maintenance

biological process:
cell surface receptor linked signal transduction

biological process:
homophilic cell adhesion

cellular component:
integral to membrane

cellular component:
integral to membrane

cellular component:
membrane

biological process:
posterior midgut development

biological process:
protein amino acid phosphorylation

biological process:
protein amino acid phosphorylation

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
protein-tyrosine kinase activity

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
signal transduction

biological process:
signal transduction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002197_01

Name:
Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)
UniGene:
Hs.533683

Gene Symbol:
FGFR2

Locus Link:
2263

Chromosome:
10
Cytoband:
10q26

Sum Func:
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with many craniosynostotic syndromes and bone malformations. The genomic organization of this gene encompasses 20 exons. Alternative splicing in multiple exons, including those encoding the Ig-like domains, the transmembrane region and the carboxyl terminus, results in varied isoforms which differ in structure and specificity. 		SP Function:
receptor for acidic and basic fibroblast growth factors. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
fibroblast growth factor receptor activity

cellular component:
integral to membrane

biological process:
protein amino acid phosphorylation

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
protein-tyrosine kinase activity

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002448_01

Name:
Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)
UniGene:
Hs.1420

Gene Symbol:
FGFR3

Locus Link:
2261

Chromosome:
4
Cytoband:
4p16.3

Sum Func:
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Alternative splicing occurs and additional variants have been described, including those utilizing alternate exon 8 rather than 9, but their full-length nature has not been determined. 		SP Function:
receptor for acidic and basic fibroblast growth factors. preferentially binds fgf1. 		Gene Ontology:

molecular function:
ATP binding

biological process:
JAK-STAT cascade

biological process:
MAPKKK cascade

biological process:
cell growth

molecular function:
fibroblast growth factor receptor activity

biological process:
fibroblast growth factor receptor signaling pathway

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
skeletal development

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002462_01

Name:
Receptor tyrosine kinase-like orphan receptor 1
UniGene:
Hs.436456

Gene Symbol:
ROR1

Locus Link:
4919

Chromosome:
1
Cytoband:
1p32-p31

Sum Func:
The protein encoded by this gene is a receptor protein tyrosine kinase whose cellular role has not been determined. It is a type I membrane protein and belongs to the ROR subfamily of cell surface receptors. Studies of a similar protein in mouse suggest that this protein may interact with another receptor protein tyrosine kinase and may be involved in skeletal and cardiac development. 		SP Function:
tyrosine-protein kinase receptor whose role is not yet clear. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
cytoplasm

biological process:
development

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
transferase activity

molecular function:
transmembrane receptor activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002473_01

Name:
Insulin-like growth factor 1 receptor
UniGene:
Hs.20573

Gene Symbol:
IGF1R

Locus Link:
3480

Chromosome:
15
Cytoband:
15q26.3

Sum Func:
This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. 		SP Function:
this receptor binds insulin-like growth factor i (igf i) with a high affinity and igf ii with a lower affinity. it has a tyrosine-protein kinase activity. 		Gene Ontology:

molecular function:
ATP binding

biological process:
anti-apoptosis

molecular function:
epidermal growth factor receptor activity

biological process:
insulin receptor signaling pathway

molecular function:
insulin-like growth factor receptor activity

cellular component:
integral to membrane

biological process:
positive regulation of cell proliferation

biological process:
protein amino acid phosphorylation

molecular function:
protein binding

molecular function:
receptor activity

biological process:
regulation of cell cycle

biological process:
signal transduction

molecular function:
transferase activity

 BioCarta Pathways:

1: Regulation of BAD phosphorylation

2: Erk1/Erk2 Mapk Signaling pathway

3: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)

4: IGF-1 Signaling Pathway

5: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway

6: Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation

7: The IGF-1 Receptor and Longevity

8: Telomeres, Telomerase, Cellular Aging, and Immortality

 KEGG Pathways:
Unique id
: H002485_01

Name:
Fms-related tyrosine kinase 4
UniGene:
Hs.415048

Gene Symbol:
FLT4

Locus Link:
285682>2324; 285682

Chromosome:
5
Cytoband:
5q34-q35

Sum Func: SP Function:
receptor for vegfc. has a tyrosine-protein kinase activity. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

molecular function:
vascular endothelial growth factor receptor activity

molecular function:
vascular endothelial growth factor receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002488_01

Name:
Activin A receptor, type IIB
UniGene:
Hs.517775

Gene Symbol:
ACVR2B

Locus Link:
93

Chromosome:
3
Cytoband:
3p22

Sum Func:
Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. 		SP Function:
receptor for activin a, activin b and inhibin a. involved in transmembrane signaling. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to plasma membrane

cellular component:
membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein binding

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

molecular function:
transferase activity

molecular function:
transforming growth factor beta receptor activity

biological process:
transmembrane receptor protein serine/threonine kinase signaling pathway

biological process:
transmembrane receptor protein serine/threonine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002568_01

Name:
EPH receptor A1
UniGene:
Hs.89839

Gene Symbol:
EPHA1

Locus Link:
2041

Chromosome:
7
Cytoband:
7q34

Sum Func:
This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. 		SP Function:
receptor for members of the ephrin-a family. binds with a low affinity to ephrin-a1. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
ephrin receptor activity

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002624_01

Name:
Insulin receptor
UniGene:
Hs.465744

Gene Symbol:
INSR

Locus Link:
3643

Chromosome:
19
Cytoband:
19p13.3-p13.2

Sum Func:
After removal of the precursor signal peptide, the insulin receptor precursor is post-translationally cleaved into two chains (alpha and beta) that are covalently linked. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. 		SP Function:
this receptor binds insulin and has a tyrosine-protein kinase activity. isoform short has a higher affinity for insulin. 		Gene Ontology:

molecular function:
ATP binding

biological process:
carbohydrate metabolism

biological process:
cell growth and/or maintenance

biological process:
development

biological process:
energy pathways

molecular function:
epidermal growth factor receptor activity

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
receptor signaling protein tyrosine kinase activity

biological process:
signal transduction

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

molecular function:
transmembrane receptor protein tyrosine kinase signaling protein activity

 BioCarta Pathways:

1: Growth Hormone Signaling Pathway

2: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)

3: Insulin Signaling Pathway

 KEGG Pathways:
Unique id
: H002657_01

Name:
Bone morphogenetic protein receptor, type IA
UniGene:
Hs.524477

Gene Symbol:
BMPR1A

Locus Link:
657

Chromosome:
10
Cytoband:
10q22.3

Sum Func:
The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. 		SP Function:
receptor for bmp-2 and bmp-4. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
receptor activity

molecular function:
transferase activity

molecular function:
transforming growth factor beta receptor activity

biological process:
transforming growth factor beta receptor signaling pathway

 BioCarta Pathways:

1: ALK in cardiac myocytes

 KEGG Pathways:
Unique id
: H002700_01

Name:
Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)
UniGene:
Hs.494622

Gene Symbol:
TGFBR1

Locus Link:
7046

Chromosome:
9
Cytoband:
9q22

Sum Func: SP Function:
type i/type ii tgf-beta receptors form an heteromeric complex after binding tgf-beta at the cell surface and act as signal transducers. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

biological process:
transforming growth factor beta receptor complex assembly

molecular function:
type I transforming growth factor beta receptor activity

 BioCarta Pathways:

1: ALK in cardiac myocytes

2: MAP Kinase Signaling Pathway

3: NFkB activation by Nontypeable Hemophilus influenzae

4: p38 MAPK Signaling Pathway

5: Function of SLRP in Bone: An Integrated View

6: TGF beta signaling pathway

 KEGG Pathways:
Unique id
: H002712_01

Name:
Kinase insert domain receptor (a type III receptor tyrosine kinase)
UniGene:
Hs.479756

Gene Symbol:
KDR

Locus Link:
3791

Chromosome:
4
Cytoband:
4q11-q12

Sum Func: SP Function:
receptor for vegf or vegfc. has a tyrosine-protein kinase activity. the vegf-kinase ligand/receptor signaling system plays a key role in vascular development and regulation of vascular permeability. 		Gene Ontology:

molecular function:
ATP binding

biological process:
angiogenesis

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

molecular function:
vascular endothelial growth factor receptor activity

 BioCarta Pathways:

1: Actions of Nitric Oxide in the Heart

2: VEGF, Hypoxia, and Angiogenesis

 KEGG Pathways:
Unique id
: H002714_01

Name:
AXL receptor tyrosine kinase
UniGene:
Hs.466791

Gene Symbol:
AXL

Locus Link:
558

Chromosome:
19
Cytoband:
19q13.1

Sum Func:
The protein encoded by this gene is a member of the receptor tyrosine kinase subfamily. Although it is similar to other receptor tyrosine kinases, the Axl protein represents a unique structure of the extracellular region that juxtaposes IgL and FNIII repeats. It transduce signals from the extracellular matrix into the cytoplasm by binding growth factors like vitamin K-dependent protein growth-arrest-specific gene 6. It is involved in the stimulation of cell proliferation. This receptor can also mediate cell aggregation by homophilic binding. Axl is a chronic myelogenous leukemia-associated oncogene and also associated with colon cancer and melanoma. It is in close vicinity to the bcl3 oncogene which is at 19q13.1-q13.2. The Axl gene is evolutionarily conserved between vertebrate species. This gene has two different alternatively spliced transcript variants. 		SP Function:
may function as a signal transducer between specific cell types of mesodermal origin. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell growth and/or maintenance

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
regulation of cell cycle

biological process:
signal transduction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002756_01

Name:
Fibroblast growth factor receptor 4
UniGene:
Hs.165950

Gene Symbol:
FGFR4

Locus Link:
2264

Chromosome:
5
Cytoband:
5q35.1-qter

Sum Func:
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. The genomic organization of this gene, compared to members 1-3, encompasses 18 exons rather than 19 or 20. Although alternative splicing has been observed, there is no evidence that the C-terminal half of the IgIII domain of this protein varies between three alternate forms, as indicated for members 1-3. This particular family member preferentially binds acidic fibroblast growth factor and, although its specific function is unknown, it is overexpressed in gynecological tumor samples, suggesting a role in breast and ovarian tumorigenesis. 		SP Function:
receptor for acidic fibroblast growth factor. does not bind to basic fibroblast growth factor. binds fgf19. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
fibroblast growth factor receptor activity

biological process:
fibroblast growth factor receptor signaling pathway

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000323_01

Name:
Ret finger protein
UniGene:
Hs.440382

Gene Symbol:
RFP

Locus Link:
5987

Chromosome:
6
Cytoband:
6p22

Sum Func:
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nuclear matrix. It interacts with the enhancer of polycomb protein and represses gene transcription. It is also thought to be involved in the differentiation of male germ cells. Rearrangements of this gene and the RET gene result in a gene encoding the ret transforming protein. Two alternatively spliced transcript variants for this gene have been described. 		SP Function:
has a transcriptional repressor activity by cooperating with epc1. induces apoptosis by activating jun n-terminal kinase and p38 kinase and also increases caspase-3-like activity independently of mitochondrial events. may function in male germ cell development. has dna-binding activity and preferentially bound to double-stranded dna (by similarity). 		Gene Ontology:

molecular function:
DNA binding

biological process:
cell proliferation

cellular component:
integral to plasma membrane

cellular component:
membrane fraction

molecular function:
metal ion binding

cellular component:
nucleus

biological process:
protein ubiquitination

biological process:
regulation of transcription, DNA-dependent

biological process:
spermatogenesis

biological process:
transcription

molecular function:
transmembrane receptor protein tyrosine kinase activity

cellular component:
ubiquitin ligase complex

molecular function:
ubiquitin-protein ligase activity

molecular function:
zinc ion binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002775_01

Name:
Platelet-derived growth factor receptor, alpha polypeptide
UniGene:
Hs.74615

Gene Symbol:
PDGFRA

Locus Link:
5156

Chromosome:
4
Cytoband:
4q11-q13

Sum Func:
This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies in knockout mice, where homozygosity is lethal, indicate that the alpha form of the platelet-derived growth factor receptor is particularly important for kidney development since mice heterozygous for the receptor exhibit defective kidney phenotypes. 		SP Function:
receptor that binds both pdgfa and pdgfb and has a tyrosine-protein kinase activity. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell proliferation

biological process:
cell surface receptor linked signal transduction

cellular component:
integral to plasma membrane

molecular function:
platelet-derived growth factor alpha-receptor activity

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

molecular function:
vascular endothelial growth factor receptor activity

 BioCarta Pathways:

1: CBL mediated ligand-induced downregulation of EGF receptors

2: Role of PI3K subunit p85 in regulation of Actin Organization and Cell Migration

3: Phospholipids as signaling intermediaries

4: Erk1/Erk2 Mapk Signaling pathway

5: PDGF Signaling Pathway

6: Rac 1 cell motility signaling pathway

 KEGG Pathways:
Unique id
: H002846_01

Name:
EPH receptor B3
UniGene:
Hs.2913

Gene Symbol:
EPHB3

Locus Link:
2049

Chromosome:
3
Cytoband:
3q21-qter

Sum Func:
Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. 		SP Function:
receptor for members of the ephrin-b family. binds to ephrin-b1 and -b2. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
ephrin receptor activity

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002936_01

Name:
Macrophage stimulating 1 receptor (c-met-related tyrosine kinase)
UniGene:
Hs.517973

Gene Symbol:
MST1R

Locus Link:
4486

Chromosome:
3
Cytoband:
3p21.3

Sum Func: SP Function:
receptor for macrophage stimulating protein (msp). has a tyrosine-protein kinase activity. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell motility

biological process:
defense response

biological process:
fertilization (sensu Metazoa)

cellular component:
integral to plasma membrane

molecular function:
macrophage colony stimulating factor receptor activity

biological process:
positive regulation of cell proliferation

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

 BioCarta Pathways:

1: Msp/Ron Receptor Signaling Pathway

 KEGG Pathways:
Unique id
: H002955_01

Name:
Discoidin domain receptor family, member 1
UniGene:
Hs.520004

Gene Symbol:
DDR1

Locus Link:
780

Chromosome:
6
Cytoband:
6p21.3

Sum Func:
Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene is a RTK that is widely expressed in normal and transformed epithelial cells and is activated by various types of collagen. This protein belongs to a subfamily of tyrosine kinase receptors with a homology region to the Dictyostelium discoideum protein discoidin I in their extracellular domain. Its autophosphorylation is achieved by all collagens so far tested (type I to type VI). In situ studies and Northern-blot analysis showed that expression of this encoded protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, this protein is significantly over-expressed in several human tumors from breast, ovarian, esophageal, and pediatric brain. This gene is located on chromosome 6p21.3 in proximity to several HLA class I genes. Three isoforms of this gene are generated by alternative splicing. [PROW] 		SP Function:
may be involved in cell-cell interactions and recognition. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell adhesion

biological process:
cell adhesion

cellular component:
integral to plasma membrane

cellular component:
membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
receptor activity

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003016_01

Name:
Insulin-like growth factor 2 receptor
UniGene:
Hs.487062

Gene Symbol:
IGF2R

Locus Link:
3482

Chromosome:
6
Cytoband:
6q26

Sum Func:
CD222 is a 250kDa transmembrane protein with a short cytoplasmic tail containing an internalization signal. CD222 was originally identified as a receptor for IGFII and M6P-containing proteins (e.g. lysosomal hydrolases). Lysosomal enzymes are sorted to lysosomes via CD222 either from the Golgi, where the enzymes acquire M6P, or from the extracellular space. The majority of CD222 molecules (approximately 90-95%) are located intracellularly, only 5-10% is present on the cell membrane. The internalization rate seems to be enhanced by ligand induced dimerization of CD222 as well as by phosphorylation of its cytoplasmic serine. CD222 is also a receptor for TGFbeta latency associated peptide (LAP), proliferin and may bind several molecules independently of M6P, including plasminogen, CD87 or retinoic acid. It is involved in activation of latent TGFbeta [PROW] 		SP Function:
transport of phosphorylated lysosomal enzymes from the golgi complex and the cell surface to lysosomes. lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6- phosphate receptors in the golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low ph mediates the dissociation of the complex. this receptor also binds insulin growth factor ii. 		Gene Ontology:

molecular function:
insulin-like growth factor receptor activity

cellular component:
integral to plasma membrane

cellular component:
lysosome

molecular function:
receptor activity

biological process:
receptor mediated endocytosis

biological process:
signal transduction

biological process:
transport

molecular function:
transporter activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003096_01

Name:
EPH receptor B4
UniGene:
Hs.437008

Gene Symbol:
EPHB4

Locus Link:
2050

Chromosome:
7;16
Cytoband:
7q22

Sum Func:
Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. 		SP Function:
receptor for members of the ephrin-b family. binds to ephrin-b2. may have a role in events mediating differentiation and development. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell proliferation

molecular function:
ephrin receptor activity

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

biological process:
organogenesis

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003160_01

Name:
RYK receptor-like tyrosine kinase
UniGene:
Hs.245869

Gene Symbol:
RYK

Locus Link:
6259

Chromosome:
3
Cytoband:
3q22

Sum Func:
The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. Two alternative splice variants have been identified, encoding distinct isoforms. 		SP Function:
potential growth factor receptor protein tyrosine kinase. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003228_01

Name:
Colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog
UniGene:
Hs.174142

Gene Symbol:
CSF1R

Locus Link:
1436

Chromosome:
5;22
Cytoband:
5q33-q35

Sum Func:
The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. 		SP Function:
this protein is the receptor for csf-1, it is a protein tyrosine-kinase transmembrane receptor. 		Gene Ontology:

molecular function:
ATP binding

biological process:
antimicrobial humoral response (sensu Vertebrata)

biological process:
cell proliferation

biological process:
development

cellular component:
integral to plasma membrane

molecular function:
macrophage colony stimulating factor receptor activity

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003267_01

Name:
Tyrosine kinase with immunoglobulin and epidermal growth factor homology domains
UniGene:
Hs.78824

Gene Symbol:
TIE

Locus Link:
7075

Chromosome:
1
Cytoband:
1p34-p33

Sum Func: SP Function:
probable protein tyrosine-kinase transmembrane receptor. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to plasma membrane

biological process:
mesoderm development

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003542_01

Name:
V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
UniGene:
Hs.446352

Gene Symbol:
ERBB2

Locus Link:
2064

Chromosome:
17;5;11
Cytoband:
17q11.2-q12

Sum Func:
This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signaling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. 		SP Function:
essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. gp30 is a potential ligand for this receptor. not activated by egf, tgf- alpha and amphiregulin. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
ErbB-3 class receptor binding

biological process:
cell proliferation

molecular function:
epidermal growth factor receptor activity

cellular component:
extracellular region

cellular component:
integral to membrane

cellular component:
membrane

molecular function:
non-membrane spanning protein tyrosine kinase activity

biological process:
protein amino acid phosphorylation

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
receptor signaling protein tyrosine kinase activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:

1: Role of ERBB2 in Signal Transduction and Oncology

2: Trefoil Factors Initiate Mucosal Healing

 KEGG Pathways:
Unique id
: H003588_01

Name:
Neurotrophic tyrosine kinase, receptor, type 3
UniGene:
Hs.26776

Gene Symbol:
NTRK3

Locus Link:
4916

Chromosome:
15
Cytoband:
15q25

Sum Func:
This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signaling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. 		SP Function:
receptor for neurotrophin-3 (nt-3). this is a tyrosine- protein kinase receptor. known substrates for the trk receptors are shc1, pi-3 kinase, and plcg1. the different isoforms do not have identical signaling properties. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to plasma membrane

molecular function:
kinase activity

biological process:
neurogenesis

molecular function:
neurotrophin binding

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003651_01

Name:
EPH receptor B2
UniGene:
Hs.523329

Gene Symbol:
EPHB2

Locus Link:
2048

Chromosome:
1
Cytoband:
1p36.1-p35

Sum Func:
Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. 		SP Function:
receptor for members of the ephrin-b family. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to membrane

biological process:
neurogenesis

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

molecular function:
transmembrane-ephrin receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003752_01

Name:
Platelet-derived growth factor receptor, beta polypeptide
UniGene:
Hs.509067

Gene Symbol:
PDGFRB

Locus Link:
5159

Chromosome:
5
Cytoband:
5q31-q32

Sum Func:
This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETS, leukemia gene, results in chronic myelomonocytic leukemia. 		SP Function:
receptor that binds specifically to pdgfb and has a tyrosine-protein kinase activity. phosphorylates tyr residues at the c-terminus of ptpn11 creating a binding site for the sh2 domain of grb2. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell growth and/or maintenance

cellular component:
integral to membrane

molecular function:
platelet activating factor receptor activity

molecular function:
platelet-derived growth factor receptor activity

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

molecular function:
vascular endothelial growth factor receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003804_01

Name:
PTK7 protein tyrosine kinase 7
UniGene:
Hs.90572

Gene Symbol:
PTK7

Locus Link:
5754

Chromosome:
6;17
Cytoband:
6p21.1-p12.2

Sum Func:
Receptor protein tyrosine kinases transduce extracellular signals across the cell membrane. A subgroup of these kinases lack detectable catalytic tyrosine kinase activity but retain roles in signal transduction. The protein encoded by this gene is a member of this subgroup of tyrosine kinases and may function as a cell adhesion molecule. This gene is thought to be expressed in colon carcinomas but not in normal colon, and therefore may be a marker for or may be involved in tumor progression. Five transcript variants encoding five different isoforms have been found for this gene. 		SP Function:
may function as a cell adhesion molecule. lacks probably the catalytic activity of tyrosine kinase. may be connected to the pathophysiology of colon carcinomas and/or may represent a tumor progression marker. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell adhesion

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein binding

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003808_01

Name:
V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
UniGene:
Hs.479754

Gene Symbol:
KIT

Locus Link:
3815

Chromosome:
4
Cytoband:
4q11-q12

Sum Func:
KIT encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. KIT is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in KIT are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. 		SP Function:
this is the receptor for stem cell factor (mast cell growth factor). it has a tyrosine-protein kinase activity. binding of the ligands leads to the autophosphorylation of kit and its association with substrates such as phosphatidylinositol 3-kinase (pi3k). 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell growth and/or maintenance

cellular component:
integral to membrane

biological process:
protein amino acid dephosphorylation

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
receptor signaling protein tyrosine kinase activity

biological process:
signal transduction

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

molecular function:
vascular endothelial growth factor receptor activity

 BioCarta Pathways:

1: Regulation of BAD phosphorylation

2: Melanocyte Development and Pigmentation Pathway

 KEGG Pathways:
Unique id
: H003853_01

Name:
Activin A receptor, type IB
UniGene:
Hs.438918

Gene Symbol:
ACVR1B

Locus Link:
91

Chromosome:
12
Cytoband:
12q13

Sum Func:
Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with a cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling, and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type IB receptor, composed of 11 exons. Alternative splicing and alternative polyadenylation result in 3 fully described transcript variants. The mRNA expression of variants 1, 2, and 3 is confirmed, and a potential fourth variant contains an alternative exon 8 and lacks exons 9 through 11, but its mRNA expression has not been confirmed. 		SP Function: Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
receptor activity

molecular function:
transferase activity

molecular function:
transforming growth factor beta receptor activity

biological process:
transmembrane receptor protein serine/threonine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000425_01

Name:
C-mer proto-oncogene tyrosine kinase
UniGene:
Hs.306178

Gene Symbol:
MERTK

Locus Link:
10461

Chromosome:
2
Cytoband:
2q14.1

Sum Func: SP Function: Gene Ontology:

molecular function:
ATP binding

biological process:
cell growth and/or maintenance

biological process:
cell surface receptor linked signal transduction

biological process:
cell-cell signaling

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

cellular component:
soluble fraction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

biological process:
visual perception

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000683_01

Name:
Fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
UniGene:
Hs.264887

Gene Symbol:
FGFR1

Locus Link:
2260

Chromosome:
8
Cytoband:
8p11.2-p11.1

Sum Func:
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene can lead to Pfeiffer syndrome and Jackson-Weiss syndrome. The genomic organization of this gene is very similar to family members 2-4, encompassing 19 exons that are subject to complex alternative splicing, which allows for structural, tissue expression and ligand affinity variations among the isoforms. 		SP Function:
receptor for basic fibroblast growth factor. a shorter form of the receptor could be a receptor for acidic fgf (afgf). 		Gene Ontology:

molecular function:
ATP binding

biological process:
MAPKKK cascade

molecular function:
fibroblast growth factor receptor activity

biological process:
fibroblast growth factor receptor signaling pathway

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
skeletal development

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H008853_01

Name:
Fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
UniGene:
Hs.264887

Gene Symbol:
FGFR1

Locus Link:
2260

Chromosome:
8
Cytoband:
8p11.2-p11.1

Sum Func:
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene can lead to Pfeiffer syndrome and Jackson-Weiss syndrome. The genomic organization of this gene is very similar to family members 2-4, encompassing 19 exons that are subject to complex alternative splicing, which allows for structural, tissue expression and ligand affinity variations among the isoforms. 		SP Function:
receptor for basic fibroblast growth factor. a shorter form of the receptor could be a receptor for acidic fgf (afgf). 		Gene Ontology:

molecular function:
ATP binding

biological process:
MAPKKK cascade

molecular function:
fibroblast growth factor receptor activity

biological process:
fibroblast growth factor receptor signaling pathway

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
skeletal development

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000940_01

Name:
Latent transforming growth factor beta binding protein 1
UniGene:
Hs.49787

Gene Symbol:
LTBP1

Locus Link:
4052

Chromosome:
2
Cytoband:
2p22-p21

Sum Func:
The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. 		SP Function:
may be involved in the assembly, secretion and targeting of tgfb1 to sites at which it is stored and/or activated. may play critical roles in controlling and directing the activity of tgfb1. may have a structural role in the extra cellular matrix (ecm). 		Gene Ontology:

biological process:
biological_process unknown

molecular function:
calcium ion binding

cellular component:
extracellular matrix (sensu Metazoa)

molecular function:
growth factor binding

molecular function:
transforming growth factor beta receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000990_01

Name:
Insulin receptor-related receptor
UniGene:
Hs.248138

Gene Symbol:
INSRR

Locus Link:
3645

Chromosome:
1
Cytoband:
1q21-q23

Sum Func: SP Function:
this receptor probably binds an insulin related protein and has a tyrosine-protein kinase activity. it phosphorylates the insulin receptor substrates irs-1 and irs-2. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
epidermal growth factor receptor activity

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H013267_01

Name:
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
UniGene:
Hs.306251

Gene Symbol:
ERBB3

Locus Link:
2065

Chromosome:
12
Cytoband:
12q13

Sum Func:
This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. 		SP Function:
binds and is activated by neuregulins and ntak. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
epidermal growth factor receptor activity

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H001127_01

Name:
Leukocyte tyrosine kinase
UniGene:
Hs.434481

Gene Symbol:
LTK

Locus Link:
4058

Chromosome:
15
Cytoband:
15q15.1-q21.1

Sum Func:
The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. 		SP Function:
the exact function of this protein is not known. it is probably a receptor with a tyrosine-protein kinase activity. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to plasma membrane

cellular component:
membrane

biological process:
protein amino acid phosphorylation

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
receptor activity

biological process:
signal transduction

cellular component:
soluble fraction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H001355_01

Name:
Receptor tyrosine kinase-like orphan receptor 2
UniGene:
Hs.98255

Gene Symbol:
ROR2

Locus Link:
4920

Chromosome:
9
Cytoband:
9q22

Sum Func:
The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. 		SP Function:
tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. it seems to be required for cartilage and growth plate development. 		Gene Ontology:

molecular function:
ATP binding

biological process:
development

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

biological process:
signal transduction

molecular function:
transferase activity

molecular function:
transmembrane receptor activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000220_01

Name:
Guanine nucleotide binding protein (G protein), alpha 13
UniGene:
Hs.515018

Gene Symbol:
GNA13

Locus Link:
10672

Chromosome:
17
Cytoband:
17q24.3

Sum Func: SP Function:
guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
GTP binding

molecular function:
GTPase activity

biological process:
cell motility

cellular component:
membrane

molecular function:
protein binding

molecular function:
receptor signaling protein activity

biological process:
signal transduction

 BioCarta Pathways:

1: Thrombin signaling and protease-activated receptors

2: PKC-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase

 KEGG Pathways:
Unique id
: H001765_01

Name:
Myristoylated alanine-rich protein kinase C substrate
UniGene:
Hs.519909

Gene Symbol:
MARCKS

Locus Link:
4082

Chromosome:
6
Cytoband:
6q22.2

Sum Func:
The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament crosslinking protein. Phosphorylation by protein kinase C or binding to calcium-calmodulin inhibits its association with actin and with the plasma membrane, leading to its presence in the cytoplasm. The protein is thought to be involved in cell motility, phagocytosis, membrane trafficking and mitogenesis. 		SP Function:
marcks is the most prominent cellular substrate for protein kinase c. this protein binds calmodulin, actin, and synapsin. marcks is a filamentous (f) actin cross-linking protein. 		Gene Ontology:

cellular component:
actin cytoskeleton

molecular function:
actin filament binding

molecular function:
calmodulin binding

biological process:
cell motility

cellular component:
plasma membrane

 BioCarta Pathways:

1: Effects of calcineurin in Keratinocyte Differentiation

 KEGG Pathways:
Unique id
: H002110_01

Name:
Coagulation factor II (thrombin) receptor
UniGene:
Hs.482562

Gene Symbol:
F2R

Locus Link:
2149

Chromosome:
5
Cytoband:
5q13

Sum Func:
Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. 		SP Function:
high affinity receptor for activated thrombin coupled to g proteins that stimulate phosphoinositide hydrolysis. may play a role in platelets activation and in vascular development. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

cellular component:
Golgi apparatus

biological process:
STAT protein nuclear translocation

biological process:
apoptosis

biological process:
blood coagulation

biological process:
caspase activation

biological process:
cell motility

cellular component:
integral to plasma membrane

biological process:
morphogenesis

biological process:
positive regulation of I-kappa B kinase/NF-kappaB cascade

molecular function:
receptor binding

biological process:
regulation of cell cycle

biological process:
response to wounding

molecular function:
rhodopsin-like receptor activity

biological process:
signal transduction

molecular function:
thrombin receptor activity

biological process:
tyrosine phosphorylation of STAT protein

 BioCarta Pathways:

1: Acute Myocardial Infarction

2: Extrinsic Prothrombin Activation Pathway

3: Fibrinolysis Pathway

4: Intrinsic Prothrombin Activation Pathway

 KEGG Pathways:
Unique id
: H002381_01

Name:
CD9 antigen (p24)
UniGene:
Hs.114286

Gene Symbol:
CD9

Locus Link:
928

Chromosome:
12
Cytoband:
12p13.3

Sum Func:
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It can modulate cell adhesion and migration and also trigger platelet activation and aggregation. In addition, the protein appears to promote muscle cell fusion and support myotube maintenance. 		SP Function:
involved in platelet activation and aggregation. regulates paranodal junction formation. required for gamete fusion. involved in cell adhesion, cell motility and tumor metastasis. 		Gene Ontology:

biological process:
cell adhesion

biological process:
cell motility

biological process:
fusion of sperm to egg plasma membrane

cellular component:
integral to plasma membrane

biological process:
paranodal junction formation

biological process:
platelet activation

molecular function:
protein binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002477_01

Name:
Neogenin homolog 1 (chicken)
UniGene:
Hs.388613

Gene Symbol:
NEO1

Locus Link:
4756

Chromosome:
15
Cytoband:
15q22.3-q23

Sum Func: SP Function:
may be involved as a regulatory protein in the transition of undifferentiated proliferating cells to their differentiated state. may also function as a cell adhesion molecule in a broad spectrum of embryonic and adult tissues. 		Gene Ontology:

biological process:
cell adhesion

biological process:
cell motility

biological process:
cell-cell signaling

biological process:
development

cellular component:
integral to plasma membrane

molecular function:
protein binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002710_01

Name:
Interleukin 10
UniGene:
Hs.193717

Gene Symbol:
IL10

Locus Link:
3586

Chromosome:
1
Cytoband:
1q31-q32

Sum Func:
The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. 		SP Function:
inhibits the synthesis of a number of cytokines, including ifn-gamma, il-2, il-3, tnf and gm-csf produced by activated macrophages and by helper t cells. 		Gene Ontology:

biological process:
B-cell differentiation

biological process:
B-cell proliferation

biological process:
T-helper 2 type immune response

biological process:
anti-apoptosis

biological process:
cell-cell signaling

molecular function:
cytokine activity

biological process:
cytoplasmic sequestering of NF-kappaB

cellular component:
extracellular region

biological process:
hemopoiesis

biological process:
immune cell chemotaxis

biological process:
immune response

molecular function:
interleukin-10 receptor binding

biological process:
negative regulation of MHC class II biosynthesis

biological process:
negative regulation of T-cell proliferation

biological process:
negative regulation of interferon-alpha biosynthesis

biological process:
negative regulation of interferon-gamma biosynthesis

biological process:
negative regulation of nitric oxide biosynthesis

biological process:
regulation of isotype switching

 BioCarta Pathways:

1: Antigen Dependent B Cell Activation

2: Cytokine Network

3: Dendritic cells in regulating TH1 and TH2 Development

4: IL-10 Anti-inflammatory Signaling Pathway

5: Cytokines and Inflammatory Response

 KEGG Pathways:
Unique id
: H002722_01

Name:
Mitogen-activated protein kinase kinase 1
UniGene:
Hs.145442

Gene Symbol:
MAP2K1

Locus Link:
5604

Chromosome:
15
Cytoband:
15q22.1-q22.33

Sum Func:
The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. 		SP Function:
catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a thr-glu-tyr sequence located in map kinases. activates erk1 and erk2 map kinases. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
MAP kinase kinase activity

biological process:
cell motility

biological process:
chemotaxis

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
protein-tyrosine kinase activity

biological process:
signal transduction

molecular function:
transferase activity

 BioCarta Pathways:

1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling

2: CCR3 signaling in Eosinophils

3: TPO Signaling Pathway

4: Anthrax Toxin Mechanism of Action

5: Roles of �-arrestin-dependent Recruitment of Src Kinases in GPCR Signaling

6: Role of �-arrestins in the activation and targeting of MAP kinases

7: BCR Signaling Pathway

8: Bioactive Peptide Induced Signaling Pathway

9: Cadmium induces DNA synthesis and proliferation in macrophages

10: Phosphorylation of MEK1 by cdk5/p35 down regulates the MAP kinase pathway

11: Ceramide Signaling Pathway

12: CXCR4 Signaling Pathway

13: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia

14: EGF Signaling Pathway

15: Map Kinase Inactivation of SMRT Corepressor

16: EPO Signaling Pathway

17: Erk1/Erk2 Mapk Signaling pathway

18: fMLP induced chemokine gene expression in HMC-1 cells

19: Fc Epsilon Receptor I Signaling in Mast Cells

20: Growth Hormone Signaling Pathway

21: Inhibition of Cellular Proliferation by Gleevec

22: Signaling Pathway from G-Protein Families

23: Human Cytomegalovirus and Map Kinase Pathways

24: Role of ERBB2 in Signal Transduction and Oncology

25: IGF-1 Signaling Pathway

26: Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation

27: IL 2 signaling pathway

28: IL 3 signaling pathway

29: IL 6 signaling pathway

30: Insulin Signaling Pathway

31: Integrin Signaling Pathway

32: Keratinocyte Differentiation

33: Role of MAL in Rho-Mediated Activation of SRF

34: MAP Kinase Signaling Pathway

35: Signaling of Hepatocyte Growth Factor Receptor

36: NFAT and Hypertrophy of the heart (Transcription in the broken heart)

37: Nerve growth factor pathway (NGF)

38: Ras-Independent pathway in NK cell-mediated cytotoxicity

39: PDGF Signaling Pathway

40: Links between Pyk2 and Map Kinases

41: Ras Signaling Pathway

42: Aspirin Blocks Signaling Pathway Involved in Platelet Activation

43: Sprouty regulation of tyrosine kinase signals

44: T Cell Receptor Signaling Pathway

45: TGF beta signaling pathway

 KEGG Pathways:
Unique id
: H002750_01

Name:
Neuropeptide Y
UniGene:
Hs.1832

Gene Symbol:
NPY

Locus Link:
4852

Chromosome:
7
Cytoband:
7p15.1

Sum Func: SP Function:
npy is implicated in the control of feeding and in secretion of gonadotrophin-release hormone. 		Gene Ontology:

molecular function:
G-protein coupled receptor activity

biological process:
G-protein signaling, coupled to cyclic nucleotide second messenger

molecular function:
calcium channel regulator activity

biological process:
calcium ion transport

cellular component:
cell

biological process:
cell motility

biological process:
cell proliferation

biological process:
circulation

biological process:
digestion

cellular component:
extracellular region

biological process:
feeding behavior

molecular function:
neuropeptide hormone activity

biological process:
neuropeptide signaling pathway

biological process:
synaptic transmission

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002800_01

Name:
Connective tissue growth factor
UniGene:
Hs.410037

Gene Symbol:
CTGF

Locus Link:
1490

Chromosome:
6;16
Cytoband:
6q23.1

Sum Func: SP Function:
major connective tissue mitoattractant secreted by vascular endothelial cells. promotes proliferation and differentiation of chondrocytes. mediates heparin- and divalent cation-dependent cell adhesion in many cell types including fibroblasts, myofibroblasts, endothelial and epithelial cells. enhances fibroblast growth factor-induced dna synthesis. 		Gene Ontology:

biological process:
DNA metabolism

biological process:
cell adhesion

biological process:
cell growth and/or maintenance

biological process:
cell motility

biological process:
epidermis development

cellular component:
extracellular matrix (sensu Metazoa)

cellular component:
extracellular space

molecular function:
heparin binding

molecular function:
insulin-like growth factor binding

cellular component:
plasma membrane

molecular function:
protein binding

biological process:
regulation of cell growth

biological process:
response to wounding

cellular component:
soluble fraction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002869_01

Name:
Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa
UniGene:
Hs.77318

Gene Symbol:
PAFAH1B1

Locus Link:
5048

Chromosome:
17
Cytoband:
17p13.3

Sum Func:
PAFAH1B1 was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. PAFAH1B1 encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acetylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. 		SP Function:
probably involved in nuclear migration during cell division. participates in the process of neuronal cell differentiation or brain development, possibly by through its role in nuclear migration of differentiating neurons. may participate in targeting cytoplasmic dynein to the microtubule plus ends, thereby playing an essential role in dynein-mediated microtubule sliding. non-catalytic subunit of a acetylhydrolase complex, a complex that inactivates platelet-activating factor (paf) by removing the acetyl group at the sn-2 position. 		Gene Ontology:

biological process:
cell motility

biological process:
cytokinesis

cellular component:
cytoskeleton

biological process:
lipid metabolism

biological process:
mitosis

biological process:
neurogenesis

biological process:
signal transduction

 BioCarta Pathways:
 KEGG Pathways:

1: Glycerolipid Metabolism
Unique id
: H002891_01

Name:
Chemokine (C-C motif) ligand 4
UniGene:
Hs.75703

Gene Symbol:
CCL4

Locus Link:
6351

Chromosome:
17
Cytoband:
17q12

Sum Func: SP Function:
monokine with inflammatory and chemokinetic properties. binds to ccr5 and to ccr8. one of the major HIV suppressive factors produced by cd8+ t cells. recombinant mip-1-beta induces a dose-dependent inhibition of different strains of hiv-1, hiv-2, and simian immunodeficiency virus (siv). the processed form mip-1- beta(3-69) retains the abilities to induce down-modulation of surface expression of the chemokine receptor ccr5 and to inhibit the ccr5-mediated entry of hiv-1 in t cells. mip-1-beta(3-69) is also a ligand for ccr1 and ccr2 isoform b. 		Gene Ontology:

biological process:
cell adhesion

biological process:
cell growth and/or maintenance

biological process:
cell motility

biological process:
cell-cell signaling

molecular function:
chemokine activity

biological process:
chemotaxis

biological process:
establishment and/or maintenance of cell polarity

cellular component:
extracellular space

biological process:
immune response

biological process:
inflammatory response

molecular function:
receptor signaling protein tyrosine kinase activity

biological process:
response to virus

biological process:
signal transduction

biological process:
viral genome replication

 BioCarta Pathways:

1: Pertussis toxin-insensitive CCR5 Signaling in Macrophage

2: Selective expression of chemokine receptors during T-cell polarization

 KEGG Pathways:
Unique id
: H002895_01

Name:
Mitogen-activated protein kinase 14
UniGene:
Hs.485233

Gene Symbol:
MAPK14

Locus Link:
1432

Chromosome:
6
Cytoband:
6p21.3-p21.2

Sum Func:
The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 		SP Function:
responds to activation by environmental stress, pro- inflammatory cytokines and lipopolysaccharide (lps) by phosphorylating a number of transcription factors, such as elk1 and atf2 and several downstream kinases, such as mapkapk2 and mapkapk5. plays a critical role in the production of some cytokines, for example il-6. may play a role in stabilization of epo mrna during hypoxic stress. isoform mxi2 activation is stimulated by mitogens and oxidative stress and only poorly phosphorylates elk1 and atf2. isoform exip may play a role in the early onset of apoptosis. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
MAP kinase activity

molecular function:
MAP kinase kinase activity

molecular function:
MP kinase activity

biological process:
antimicrobial humoral response (sensu Vertebrata)

biological process:
cell motility

biological process:
cell surface receptor linked signal transduction

biological process:
chemotaxis

cellular component:
cytoplasm

cellular component:
nucleus

biological process:
protein amino acid phosphorylation

biological process:
protein kinase cascade

molecular function:
protein serine/threonine kinase activity

molecular function:
protein-tyrosine kinase activity

biological process:
response to stress

molecular function:
transferase activity

 BioCarta Pathways:

1: The 4-1BB-dependent immune response

2: Pertussis toxin-insensitive CCR5 Signaling in Macrophage

3: GATA3 participate in activating the Th2 cytokine genes expression

4: IL12 and Stat4 Dependent Signaling Pathway in Th1 Development

5: SARS Coronavirus Protease

6: Oxidative Stress Induced Gene Expression Via Nrf2

7: BCR Signaling Pathway

8: Bioactive Peptide Induced Signaling Pathway

9: Transcription factor CREB and its extracellular signals

10: Regulation of MAP Kinase Pathways Through Dual Specificity Phosphatases

11: Map Kinase Inactivation of SMRT Corepressor

12: Regulation of eIF4e and p70 S6 Kinase

13: fMLP induced chemokine gene expression in HMC-1 cells

14: Human Cytomegalovirus and Map Kinase Pathways

15: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)

16: Signal transduction through IL1R

17: Keratinocyte Differentiation

18: MAP Kinase Signaling Pathway

19: NFAT and Hypertrophy of the heart (Transcription in the broken heart)

20: NFkB activation by Nontypeable Hemophilus influenzae

21: p38 MAPK Signaling Pathway

22: Links between Pyk2 and Map Kinases

23: TNF/Stress Related Signaling

24: TACI and BCMA stimulation of B cell immune responses.

25: Toll-Like Receptor Pathway

26: TSP-1 Induced Apoptosis in Microvascular Endothelial Cell

 KEGG Pathways:
Unique id
: H002922_01

Name:
Annexin A1
UniGene:
Hs.494173

Gene Symbol:
ANXA1

Locus Link:
301

Chromosome:
9
Cytoband:
9q12-q21.2

Sum Func:
Annexin I belongs to a family of Ca(2+)-dependent phospholipid binding proteins which have a molecular weight of approximately 35,000 to 40,000 and are preferentially located on the cytosolic face of the plasma membrane. Annexin I protein has an apparent relative molecular mass of 40 kDa, with phospholipase A2 inhibitory activity. Since phospholipase A2 is required for the biosynthesis of the potent mediators of inflammation, prostaglandins and leukotrienes, annexin I may have potential anti-inflammatory activity. 		SP Function:
calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis. this protein regulates phospholipase a2 activity. it seems to bind from two to four calcium ions with high affinity. 		Gene Ontology:

molecular function:
calcium ion binding

molecular function:
calcium-dependent phospholipid binding

biological process:
cell motility

biological process:
cell surface receptor linked signal transduction

biological process:
inflammatory response

biological process:
lipid metabolism

molecular function:
phospholipase A2 inhibitor activity

molecular function:
receptor binding

 BioCarta Pathways:

1: Corticosteroids and cardioprotection

 KEGG Pathways:
Unique id
: H002931_01

Name:
Selectin L (lymphocyte adhesion molecule 1)
UniGene:
Hs.82848

Gene Symbol:
SELL

Locus Link:
6402

Chromosome:
1
Cytoband:
1q23-q25

Sum Func:
SELL is a cell surface component that is a member of a family of adhesion/homing receptors which play important roles in leukocyte-endothelial cell interactions. The molecule is composed of multiple domains: one homologous to lectins, one to epidermal growth factor, and two to the consensus repeat units found in C3/C4 binding proteins. 		SP Function:
cell surface adhesion protein. mediate the adherence of lymphocytes to endothelial cells of high endothelial venules in peripheral lymph nodes. 		Gene Ontology:

biological process:
cell adhesion

biological process:
cell motility

cellular component:
integral to plasma membrane

molecular function:
protein binding

molecular function:
sugar binding

 BioCarta Pathways:

1: Adhesion and Diapedesis of Granulocytes

2: Adhesion and Diapedesis of Lymphocytes

3: Adhesion Molecules on Lymphocyte

4: Monocyte and its Surface Molecules

5: Neutrophil and Its Surface Molecules

 KEGG Pathways:
Unique id
: H002936_01

Name:
Macrophage stimulating 1 receptor (c-met-related tyrosine kinase)
UniGene:
Hs.517973

Gene Symbol:
MST1R

Locus Link:
4486

Chromosome:
3
Cytoband:
3p21.3

Sum Func: SP Function:
receptor for macrophage stimulating protein (msp). has a tyrosine-protein kinase activity. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell motility

biological process:
defense response

biological process:
fertilization (sensu Metazoa)

cellular component:
integral to plasma membrane

molecular function:
macrophage colony stimulating factor receptor activity

biological process:
positive regulation of cell proliferation

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

 BioCarta Pathways:

1: Msp/Ron Receptor Signaling Pathway

 KEGG Pathways:
Unique id
: H002937_01

Name:
Fibronectin 1
UniGene:
Hs.203717

Gene Symbol:
FN1

Locus Link:
2335

Chromosome:
2
Cytoband:
2q34

Sum Func:
This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants. However, the full-length nature of some variants has not been determined. 		SP Function:
fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, dna, and actin. fibronectins are involved in cell adhesion, cell motility, opsonization, wound healing, and maintenance of cell shape. 		Gene Ontology:

biological process:
acute-phase response

biological process:
cell adhesion

biological process:
cell migration

molecular function:
collagen binding

molecular function:
extracellular matrix structural constituent

cellular component:
extracellular region

cellular component:
extracellular region

molecular function:
heparin binding

biological process:
metabolism

molecular function:
oxidoreductase activity

biological process:
response to wounding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002944_01

Name:
Interleukin 8
UniGene:
Hs.624

Gene Symbol:
IL8

Locus Link:
3576

Chromosome:
4
Cytoband:
4q13-q21

Sum Func:
The protein encoded by this gene is a member of the CXC chemokine family. This chemokine is one of the major mediators of the inflammatory response. This chemokine is secreted by several cell types. It functions as a chemoattractant, and is also a potent angiogenic factor. This gene is believed to play a role in the pathogenesis of bronchiolitis, a common respiratory tract disease caused by viral infection. This gene and other ten members of the CXC chemokine gene family form a chemokine gene cluster in a region mapped to chromosome 4q. 		SP Function:
il-8 is a chemotactic factor that attracts neutrophils, basophils, and t-cells, but not monocytes. it is also involved in neutrophil activation. it is released from several cell types in response to an inflammatory stimulus. il-8(6-77) has a 5-10-fold higher activity on neutrophil activation, and il-8(7-77) has a higher affinity to receptors cxcr1 and cxcr2 as compared to il- 8(1-77), respectively. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
angiogenesis

biological process:
calcium-mediated signaling

biological process:
cell cycle arrest

biological process:
cell motility

biological process:
cell-cell signaling

molecular function:
chemokine activity

biological process:
chemotaxis

cellular component:
extracellular space

biological process:
immune response

biological process:
induction of positive chemotaxis

molecular function:
interleukin-8 receptor binding

biological process:
intracellular signaling cascade

biological process:
negative regulation of cell proliferation

biological process:
neutrophil activation

biological process:
neutrophil chemotaxis

molecular function:
protein binding

biological process:
regulation of cell adhesion

biological process:
regulation of retroviral genome replication

cellular component:
soluble fraction

 BioCarta Pathways:

1: Cells and Molecules involved in local acute inflammatory response

2: Cytokine Network

3: Free Radical Induced Apoptosis

4: Adhesion and Diapedesis of Granulocytes

5: IL 17 Signaling Pathway

6: Cytokines and Inflammatory Response

7: Adhesion and Diapedesis of Lymphocytes

8: NFkB activation by Nontypeable Hemophilus influenzae

9: Proepithelin Conversion to Epithelin and Wound Repair Control

10: Regulation of hematopoiesis by cytokines

 KEGG Pathways:
Unique id
: H002952_01

Name:
Teratocarcinoma-derived growth factor 1
UniGene:
Hs.385870

Gene Symbol:
TDGF1

Locus Link:
6997

Chromosome:
3;X
Cytoband:
3p21.31

Sum Func: SP Function:
could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm. 		Gene Ontology:

biological process:
activation of MAPK

biological process:
branching morphogenesis

biological process:
cell differentiation

cellular component:
cell surface

biological process:
determination of anterior/posterior axis, embryo

biological process:
embryonic development

cellular component:
extrinsic to plasma membrane

molecular function:
growth factor activity

biological process:
heart development

biological process:
mammary gland development

biological process:
negative regulation of apoptosis

biological process:
peptidyl-serine phosphorylation

biological process:
positive regulation of cell migration

biological process:
positive regulation of cell proliferation

biological process:
positive regulation of peptidyl-tyrosine phosphorylation

biological process:
regulation of signal transduction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002976_01

Name:
Chemokine (C-X-C motif) receptor 3
UniGene:
Hs.198252

Gene Symbol:
CXCR3

Locus Link:
2833

Chromosome:
X
Cytoband:
Xq13

Sum Func:
CD183 is a G protein-coupled receptor with selectivity for three chemokines, termed IP10 (interferon-g-inducible 10 kDa protein), Mig (monokine induced by interferon-g) and I-TAC (interferon-inducible T cell a-chemoattractant). IP10, Mig and I-TAC belong to the structural subfamily of CXC chemokines, in which a single amino acid residue separates the first two of four highly conserved Cys residues. Historically, CD183 is the third CXC chemokine receptor discovered and, therefore, commonly designated as CXCR3. Binding of chemokines to CD183 induces cellular responses that are involved in leukocyte traffic, most notably integrin activation, cytoskeletal changes and chemotactic migration. Inhibition by Bordetella pertussis toxin suggests that heterotrimeric G protein of the Gi-subclass couple to CD183. Signal transduction has not been further analyzed but may include the same enzymes that were identified in the signaling cascade induced by other chemokine receptors. As a consequence of chemokine-induced cellular desensitization (phosphorylation-dependent receptor internalization), cellular responses are typically rapid and short in duration. Cellular responsiveness is restored after dephosphorylation of intracellular receptors and subsequent recycling to the cell surface. A hallmark of CD183 is its prominent expression in in vitro cultured effector/memory T cells, and in T cells present in many types of inflamed tissues. In addition, IP10, Mig and I-TAC are commonly produced by local cells in inflammatory lesion, suggesting that CD183 and its chemokines participate in the recruitment of inflammatory cells. Therefore, CD183 is a target for the development of small molecular weight antagonists, which may be used in the treatment of diverse inflammatory diseases. [PROW] 		SP Function:
receptor for scyb9/mig, scyb10/inp10 and scyb11/itac. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

molecular function:
C-X-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
antimicrobial humoral response (sensu Vertebrata)

biological process:
cell adhesion

biological process:
cell motility

biological process:
chemotaxis

cellular component:
cytoplasm

biological process:
cytosolic calcium ion concentration elevation

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:

1: IL12 and Stat4 Dependent Signaling Pathway in Th1 Development

2: mCalpain and friends in Cell motility

3: Selective expression of chemokine receptors during T-cell polarization

4: NO2-dependent IL 12 Pathway in NK cells

 KEGG Pathways:
Unique id
: H002997_01

Name:
Vascular endothelial growth factor
UniGene:
Hs.73793

Gene Symbol:
VEGF

Locus Link:
7422

Chromosome:
6;19;16;1;17
Cytoband:
6p12

Sum Func:
Many polypeptide mitogens, such as basic fibroblast growth factor (FGFB; MIM 134920) and platelet-derived growth factors (MIM 173430, MIM 190040), are active on a wide range of different cell types. In contrast, vascular endothelial growth factor is a mitogen primarily for vascular endothelial cells. It is, however, structurally related to platelet-derived growth factor.[supplied by OMIM] 		SP Function:
growth factor active in angiogenesis, vasculogenesis and endothelial cell growth. induces endothelial cell proliferation, promotes cell migration, inhibits apoptosis, and induces permeabilization of blood vessels. binds to the vegfr1/flt-1 and vegfr2/kdr receptors, heparan sulfate and heparin. neuropilin-1 binds isoforms vegf-165 and vegf-145. 		Gene Ontology:

biological process:
angiogenesis

biological process:
angiogenesis

biological process:
cell migration

biological process:
cell proliferation

cellular component:
extracellular matrix (sensu Metazoa)

molecular function:
extracellular matrix binding

molecular function:
growth factor activity

molecular function:
heparin binding

biological process:
induction of positive chemotaxis

cellular component:
membrane

biological process:
negative regulation of apoptosis

biological process:
neurogenesis

biological process:
neurogenesis

biological process:
positive regulation of cell proliferation

biological process:
positive regulation of vascular endothelial growth factor receptor signaling pathway

molecular function:
protein homodimerization activity

biological process:
regulation of cell cycle

biological process:
response to stress

biological process:
signal transduction

molecular function:
vascular endothelial growth factor receptor binding

biological process:
vasculogenesis

 BioCarta Pathways:

1: Hypoxia-Inducible Factor in the Cardiovascular System

2: Actions of Nitric Oxide in the Heart

3: VEGF, Hypoxia, and Angiogenesis

 KEGG Pathways:
Unique id
: H003114_01

Name:
3-hydroxy-3-methylglutaryl-Coenzyme A reductase
UniGene:
Hs.11899

Gene Symbol:
HMGCR

Locus Link:
3156

Chromosome:
5
Cytoband:
5q13.3-q14

Sum Func:
HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. 		SP Function:
this transmembrane glycoprotein is involved in the control of cholesterol biosynthesis. it is the rate-limiting enzyme of sterol biosynthesis. 		Gene Ontology:

biological process:
biosynthesis

biological process:
cholesterol biosynthesis

cellular component:
endoplasmic reticulum membrane

biological process:
germ cell migration

biological process:
gonad development

molecular function:
hydroxymethylglutaryl-CoA reductase (NADPH) activity

cellular component:
integral to membrane

biological process:
lipid metabolism

cellular component:
membrane fraction

molecular function:
oxidoreductase activity

cellular component:
peroxisome

 BioCarta Pathways:
 KEGG Pathways:

1: Sterol Biosynthesis
Unique id
: H003130_01

Name:
Interleukin 8 receptor, beta
UniGene:
Hs.846

Gene Symbol:
IL8RB

Locus Link:
3579

Chromosome:
2
Cytoband:
2q35

Sum Func:
The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. 		SP Function:
receptor to interleukin-8, which is a powerful neutrophils chemotactic factor. binding of il-8 to the receptor causes activation of neutrophils. this response is mediated via a g-protein that activate a phosphatidylinositol-calcium second messenger system. this receptor binds to il-8 with a high affinity and to gro/mgsa and nap-2 also with a high affinity. 		Gene Ontology:

biological process:
G-protein signaling, coupled to IP3 second messenger (phospholipase C activating)

biological process:
cell motility

biological process:
cell proliferation

biological process:
cellular defense response

biological process:
chemotaxis

cellular component:
cytoplasm

biological process:
inflammatory response

cellular component:
integral to plasma membrane

molecular function:
interleukin-8 receptor activity

molecular function:
rhodopsin-like receptor activity

molecular function:
signal transducer activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003139_01

Name:
Integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)
UniGene:
Hs.375957

Gene Symbol:
ITGB2

Locus Link:
3689

Chromosome:
21
Cytoband:
21q22.3

Sum Func:
The ITGB2 protein product is the integrin beta chain beta 2. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. For example, beta 2 combines with the alpha L chain to form the integrin LFA-1, and combines with the alpha M chain to form the integrin Mac-1. Integrins are known to participate in cell adhesion as well as cell-surface mediated signaling. 		SP Function:
integrin alpha-l/beta-2 is a receptor for icam1, icam2, icam3 and icam4. integrins alpha-m/beta-2 and alpha-x/beta-2 are receptors for the ic3b fragment of the third complement component and for fibrinogen. integrin alpha-x/beta-2 recognizes the sequence g-p-r in fibrinogen alpha-chain. integrin alpha-m/beta-2 recognizes p1 and p2 peptides of fibrinogen gamma chain. integrin alpha-m/beta-2 is also a receptor for factor x. integrin alpha- d/beta-2 is a receptor for icam3 and vcam1. 		Gene Ontology:

biological process:
antimicrobial humoral response (sensu Vertebrata)

biological process:
apoptosis

biological process:
cell-cell signaling

biological process:
cell-matrix adhesion

biological process:
development

biological process:
inflammatory response

cellular component:
integral to membrane

cellular component:
integrin complex

cellular component:
integrin complex

biological process:
integrin-mediated signaling pathway

biological process:
integrin-mediated signaling pathway

biological process:
leukocyte cell adhesion

biological process:
neutrophil chemotaxis

molecular function:
protein binding

molecular function:
protein kinase binding

molecular function:
receptor activity

biological process:
regulation of cell shape

biological process:
regulation of peptidyl-tyrosine phosphorylation

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003158_01

Name:
Mitogen-activated protein kinase 8
UniGene:
Hs.522924

Gene Symbol:
MAPK8

Locus Link:
5599

Chromosome:
10
Cytoband:
10q11.22

Sum Func:
The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various cell stimuli, and targets specific transcription factors, and thus mediates immediate-early gene expression in response to cell stimuli. The activation of this kinase by tumor-necrosis factor alpha (TNF-alpha) is found to be required for TNF-alpha induced apoptosis. This kinase is also involved in UV radiation induced apoptosis, which is thought to be related to cytochrome c-mediated cell death pathway. Studies of the mouse counterpart of this gene suggested that this kinase play a key role in T cell proliferation, apoptosis and differentiation. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. 		SP Function:
jnk1 isoforms display different binding patterns: beta-1 preferentially binds to c-jun, whereas alpha-1, alpha-2, and beta- 2 have a similar low level of binding to both c-jun or atf2. however, there is no correlation between binding and phosphorylation, which is achieved at about the same efficiency by all isoforms. 		Gene Ontology:

molecular function:
ATP binding

biological process:
JNK cascade

molecular function:
JUN kinase activity

molecular function:
MAP kinase activity

biological process:
cell motility

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

biological process:
response to stress

biological process:
signal transduction

molecular function:
transferase activity

 BioCarta Pathways:

1: The 4-1BB-dependent immune response

2: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling

3: Pertussis toxin-insensitive CCR5 Signaling in Macrophage

4: HIV-I Nef: negative effector of Fas and TNF

5: IL12 and Stat4 Dependent Signaling Pathway in Th1 Development

6: Agrin in Postsynaptic Differentiation

7: Oxidative Stress Induced Gene Expression Via Nrf2

8: ATM Signaling Pathway

9: BCR Signaling Pathway

10: Bioactive Peptide Induced Signaling Pathway

11: Ceramide Signaling Pathway

12: Regulation of MAP Kinase Pathways Through Dual Specificity Phosphatases

13: EGF Signaling Pathway

14: EPO Signaling Pathway

15: FAS signaling pathway ( CD95 )

16: Fc Epsilon Receptor I Signaling in Mast Cells

17: Inhibition of Cellular Proliferation by Gleevec

18: IGF-1 Signaling Pathway

19: Signal transduction through IL1R

20: IL 2 signaling pathway

21: Insulin Signaling Pathway

22: Integrin Signaling Pathway

23: Keratinocyte Differentiation

24: Role of MAL in Rho-Mediated Activation of SRF

25: MAP Kinase Signaling Pathway

26: Signaling of Hepatocyte Growth Factor Receptor

27: NFAT and Hypertrophy of the heart (Transcription in the broken heart)

28: Nerve growth factor pathway (NGF)

29: Hypoxia and p53 in the Cardiovascular system

30: PDGF Signaling Pathway

31: Links between Pyk2 and Map Kinases

32: Bone Remodelling

33: TNF/Stress Related Signaling

34: TACI and BCMA stimulation of B cell immune responses.

35: T Cell Receptor Signaling Pathway

36: TNFR1 Signaling Pathway

37: Toll-Like Receptor Pathway

 KEGG Pathways:
Unique id
: H003332_01

Name:
V-crk sarcoma virus CT10 oncogene homolog (avian)-like
UniGene:
Hs.5613

Gene Symbol:
CRKL

Locus Link:
1399

Chromosome:
22
Cytoband:
22q11

Sum Func:
v-CRK avian sarcoma virus CT10-homolog-like contains one SH2 domain and two SH3 domains. CRKL has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase and plays a role in fibroblast transformation by BCR-ABL. In addition, CRKL has oncogenic potential. 		SP Function:
may mediate the transduction of intracellular signals. 		Gene Ontology:

biological process:
JNK cascade

biological process:
Ras protein signal transduction

molecular function:
SH3/SH2 adaptor protein activity

biological process:
cell motility

biological process:
intracellular signaling cascade

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
signal transducer activity

 BioCarta Pathways:

1: Inhibition of Cellular Proliferation by Gleevec

2: IL-2 Receptor Beta Chain in T cell Activation

3: Integrin Signaling Pathway

4: Signaling of Hepatocyte Growth Factor Receptor

5: Links between Pyk2 and Map Kinases

 KEGG Pathways:
Unique id
: H003344_01

Name:
Abl interactor 2
UniGene:
Hs.471156

Gene Symbol:
ABI2

Locus Link:
10152

Chromosome:
2
Cytoband:
2q33

Sum Func: SP Function: Gene Ontology:

biological process:
actin polymerization and/or depolymerization

biological process:
cell migration

cellular component:
cytoplasm

molecular function:
cytoskeletal adaptor activity

biological process:
cytoskeleton organization and biogenesis

cellular component:
filopodium

molecular function:
kinase binding

cellular component:
lamellipodium

cellular component:
nucleus

 BioCarta Pathways:

1: Y branching of actin filaments

 KEGG Pathways:
Unique id
: H003496_01

Name:
Chemokine (C-X-C motif) ligand 10
UniGene:
Hs.413924

Gene Symbol:
CXCL10

Locus Link:
3627

Chromosome:
4
Cytoband:
4q21

Sum Func:
This gene encodes the interferon (gamma)-induced protein of 10kDa, a chemokine of the CXC subfamily that is one of the ligands for the receptor CXCR3. The binding of this protein to CXCR3 causes pleiotropic effects, including stimulation of monocytes, natural killer and T-cell migration, and modulation of adhesion molecule expression. 		SP Function:
chemotactic for monocytes and t lymphocytes. binds to cxcr3. 		Gene Ontology:

molecular function:
cAMP-dependent protein kinase regulator activity

biological process:
cell motility

biological process:
cell surface receptor linked signal transduction

biological process:
cell-cell signaling

molecular function:
chemokine activity

biological process:
chemotaxis

biological process:
circulation

cellular component:
extracellular region

biological process:
immune response

biological process:
inflammatory response

biological process:
muscle development

biological process:
positive regulation of cell proliferation

cellular component:
soluble fraction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003533_01

Name:
Paxillin
UniGene:
Hs.446336

Gene Symbol:
PXN

Locus Link:
5829

Chromosome:
12;13
Cytoband:
12q24.31

Sum Func: SP Function:
cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). 		Gene Ontology:

biological process:
cell motility

biological process:
cell-matrix adhesion

cellular component:
cytoskeleton

cellular component:
microtubule associated complex

molecular function:
protein binding

biological process:
signal complex formation

biological process:
signal transduction

molecular function:
zinc ion binding

 BioCarta Pathways:

1: Agrin in Postsynaptic Differentiation

2: Cell to Cell Adhesion Signaling

3: Apoptotic Signaling in Response to DNA Damage

4: CXCR4 Signaling Pathway

5: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia

6: Integrin Signaling Pathway

7: mCalpain and friends in Cell motility

8: Signaling of Hepatocyte Growth Factor Receptor

9: uCalpain and friends in Cell spread

10: VEGF, Hypoxia, and Angiogenesis

 KEGG Pathways:
Unique id

: H003564_01

Name:
Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
UniGene:
Hs.528721

Gene Symbol:
SEMA3E

Locus Link:
9723

Chromosome:
7
Cytoband:
7q21.11

Sum Func: SP Function: Gene Ontology:

biological process:
cell motility

biological process:
development

cellular component:
extracellular space

cellular component:
membrane

biological process:
neurogenesis

molecular function:
receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000396_01

Name:
Fasciculation and elongation protein zeta 1 (zygin I)
UniGene:
Hs.224008

Gene Symbol:
FEZ1

Locus Link:
9638

Chromosome:
11
Cytoband:
11q24.2

Sum Func:
This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. 		SP Function:
may be involved in axonal outgrowth as component of the network of molecules that regulate cellular morphology and axon guidance machinery. able to restore partial locomotion and axonal fasciculation to c.elegans unc-76 mutants in germ-line transformation experiments. 		Gene Ontology:

biological process:
axon guidance

biological process:
cell adhesion

biological process:
neurogenesis

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003652_01

Name:
Apolipoprotein E
UniGene:
Hs.515465

Gene Symbol:
APOE

Locus Link:
348

Chromosome:
19
Cytoband:
19q13.2

Sum Func:
Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The APOE gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in apolipoprotein E result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. 		SP Function:
mediates the binding, internalization, and catabolism of lipoprotein particles. it can serve as a ligand for the ldl (apo b/e) receptor and for the specific apo-e receptor (chylomicron remnant) of hepatic tissues. 		Gene Ontology:

molecular function:
antioxidant activity

molecular function:
apolipoprotein E receptor binding

molecular function:
beta-amyloid binding

biological process:
cholesterol homeostasis

biological process:
circulation

cellular component:
cytoplasm

biological process:
cytoskeleton organization and biogenesis

cellular component:
extracellular region

cellular component:
extracellular region

molecular function:
heparin binding

biological process:
induction of apoptosis

biological process:
intracellular transport

biological process:
learning and/or memory

molecular function:
lipid binding

biological process:
lipid transport

molecular function:
lipid transporter activity

biological process:
lipoprotein metabolism

biological process:
regulation of axon extension

biological process:
regulation of neuronal synaptic plasticity

biological process:
response to reactive oxygen species

biological process:
synaptic transmission, cholinergic

molecular function:
tau protein binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003708_01

Name:
Thioredoxin
UniGene:
Hs.435136

Gene Symbol:
TXN

Locus Link:
7295

Chromosome:
9
Cytoband:
9q31

Sum Func: SP Function:
adf augments the expression of the interleukin-2 receptor tac (il2r/p55). 		Gene Ontology:

biological process:
cell motility

biological process:
cell proliferation

biological process:
cell-cell signaling

biological process:
electron transport

molecular function:
electron transporter activity

biological process:
signal transduction

molecular function:
thiol-disulfide exchange intermediate activity

 BioCarta Pathways:

1: Chaperones modulate interferon Signaling Pathway

 KEGG Pathways:
Unique id
: H003854_01

Name:
Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)
UniGene:
Hs.113916

Gene Symbol:
BLR1

Locus Link:
643

Chromosome:
11
Cytoband:
11q23.3

Sum Func:
This gene was identified as a gene specifically expressed in Burkitt's lymphoma and lymphatic tissues. The protein encoded by this gene is predicted to be a seven transmembrane G protein- coupled receptor and belongs to the CXC chemokine receptor family. BLC, a B-lymphocyte chemoattractant, was identified to be a specific ligand for this receptor. Studies of this gene and its mouse counterpart strongly suggest the essential function of this gene in B cell migration and localization within specific anatomic compartments, such as follicles in lymph nodes as well as in spleen. Two alternatively spliced variants of this gene exist. 		SP Function:
cytokine receptor that binds to blc. blr1 exerts possibly a regulatory function in burkitt lymphoma (bl) lymphomagenesis and/or b-cell differentiation. it is a potential candidate for cell-cell interaction, and activation of mature b- lymphocytes in lymphatic tissues. 		Gene Ontology:

biological process:
B-cell activation

molecular function:
C-X-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
angiotensin type II receptor activity

biological process:
cell motility

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000427_01

Name:
Phosphatidic acid phosphatase type 2B
UniGene:
Hs.405156

Gene Symbol:
PPAP2B

Locus Link:
8613

Chromosome:
1
Cytoband:
1pter-p22.1

Sum Func:
The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is a membrane glycoprotein localized at the cell plasma membrane. It has been shown to actively hydrolyze extracellular lysophosphatidic acid and short-chain phosphatidic acid. The expression of this gene is found to be enhanced by epidermal growth factor in Hela cells. Alternatively spliced transcript variants encoding the same protein have been described. 		SP Function: Gene Ontology:

biological process:
cell growth and/or maintenance

biological process:
germ cell migration

molecular function:
hydrolase activity

cellular component:
integral to membrane

biological process:
lipid metabolism

molecular function:
phosphatidate phosphatase activity

molecular function:
phosphoprotein phosphatase activity

 BioCarta Pathways:
 KEGG Pathways:

1: Glycerolipid Metabolism

2: Phospholipid Degradation
Unique id
: H004361_01

Name:
Thioredoxin
UniGene:
Hs.435136

Gene Symbol:
TXN

Locus Link:
7295

Chromosome:
9
Cytoband:
9q31

Sum Func: SP Function:
adf augments the expression of the interleukin-2 receptor tac (il2r/p55). 		Gene Ontology:

biological process:
cell motility

biological process:
cell proliferation

biological process:
cell-cell signaling

biological process:
electron transport

molecular function:
electron transporter activity

biological process:
signal transduction

molecular function:
thiol-disulfide exchange intermediate activity

 BioCarta Pathways:

1: Chaperones modulate interferon Signaling Pathway

 KEGG Pathways:
Unique id
: H000459_01

Name:
Serine protease inhibitor, Kunitz type, 2
UniGene:
Hs.31439

Gene Symbol:
SPINT2

Locus Link:
10653

Chromosome:
19;11
Cytoband:
19q13.1

Sum Func: SP Function:
inhibitor of hgf activator. also inhibits plasmin, plasma and tissue kallikrein, and factor xia. 		Gene Ontology:

biological process:
cell motility

cellular component:
extracellular region

cellular component:
integral to membrane

molecular function:
serine-type endopeptidase inhibitor activity

cellular component:
soluble fraction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H004577_01

Name:
Vasodilator-stimulated phosphoprotein
UniGene:
Hs.515469

Gene Symbol:
VASP

Locus Link:
7408

Chromosome:
19
Cytoband:
19q13.2-q13.3

Sum Func: SP Function:
actin- and profilin-binding microfilament-associated protein. may act in concert with profilin to convey signal transduction to actin filament production. 		Gene Ontology:

molecular function:
actin binding

cellular component:
actin cytoskeleton

biological process:
cell motility

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H004767_01

Name:
Transmembrane 4 superfamily member 8
UniGene:
Hs.5062

Gene Symbol:
TM4SF8

Locus Link:
10099

Chromosome:
15
Cytoband:
15q24.3

Sum Func:
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. Two alternative transcripts encoding different isoforms have been described. 		SP Function: Gene Ontology:

biological process:
cell motility

biological process:
cell proliferation

cellular component:
integral to membrane

cellular component:
integral to membrane

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H005666_01

Name:
Talin 1
UniGene:
Hs.375001

Gene Symbol:
TLN1

Locus Link:
7094

Chromosome:
9
Cytoband:
9p13

Sum Func:
This gene encodes a cytoskeletal protein which is concentrated in areas of cell-substratum and cell-cell contacts. This protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. 		SP Function:
probably involved in connections of major cytoskeletal structures to the plasma membrane. high molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (by similarity). 		Gene Ontology:

molecular function:
actin binding

biological process:
cell motility

biological process:
cytoskeletal anchoring

cellular component:
cytoskeleton

cellular component:
focal adhesion

molecular function:
structural constituent of cytoskeleton

 BioCarta Pathways:

1: Apoptotic Signaling in Response to DNA Damage

2: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia

3: Integrin Signaling Pathway

4: mCalpain and friends in Cell motility

5: Rho cell motility signaling pathway

6: uCalpain and friends in Cell spread

 KEGG Pathways:
Unique id
: H005714_01

Name:
A kinase (PRKA) anchor protein 4
UniGene:
Hs.97633

Gene Symbol:
AKAP4

Locus Link:
8852

Chromosome:
X
Cytoband:
Xp11.2

Sum Func:
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 		SP Function: Gene Ontology:

cellular component:
cAMP-dependent protein kinase complex

biological process:
cell motility

cellular component:
cytoskeleton

biological process:
fertilization (sensu Metazoa)

molecular function:
protein kinase A binding

molecular function:
protein kinase A binding

biological process:
signal transduction

biological process:
signal transduction

biological process:
sperm motility

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H005765_01

Name:
A kinase (PRKA) anchor protein 3
UniGene:
Hs.98397

Gene Symbol:
AKAP3

Locus Link:
10566

Chromosome:
12
Cytoband:
12p13.3

Sum Func:
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family, and is expressed in testis only. The encoded protein contains an RII-binding domain, and is predicted to participate in protein-protein interactions with the R-subunit of the PKA. This protein is localized to the ribs of the fibrous sheath in the principal piece of the sperm tail. It may function as a regulator of both motility- and head-associated functions such as capacitation and the acrosome reaction. 		SP Function:
may function as a regulator of both motility- and head- associated functions such as capacitation and the acrosome reaction. 		Gene Ontology:

biological process:
acrosome reaction

biological process:
cell motility

molecular function:
protein kinase A binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H005850_01

Name:
Dynein, axonemal, heavy polypeptide 9
UniGene:
Hs.526552

Gene Symbol:
DNAH9

Locus Link:
1770

Chromosome:
17
Cytoband:
17p12

Sum Func:
This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. 		SP Function: Gene Ontology:

molecular function:
ATP binding

cellular component:
axonemal dynein complex

biological process:
cell motility

cellular component:
cytoskeleton

cellular component:
dynein complex

molecular function:
microtubule motor activity

molecular function:
microtubule motor activity

biological process:
microtubule-based movement

molecular function:
nucleoside-triphosphatase activity

molecular function:
nucleotide binding

biological process:
spermatogenesis

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H005884_01

Name:
Mitochondrial capsule selenoprotein
UniGene:
Hs.111850

Gene Symbol:
MCSP

Locus Link:
4184

Chromosome:
1
Cytoband:
1q21.3

Sum Func:
Sperm mitochondria differ in morphology and subcellular localization from those of somatic cells. They are elongated, flattened, and arranged circumferentially to form a helical coiled sheath in the midpiece of the sperm flagellum. The protein encoded by this gene localizes to the capsule associated with the mitochondrial outer membranes and is thought to function in the organization and stabilization of the helical structure of the sperm's mitochondrial sheath. 		SP Function:
involved in sperm motility. its absence is associated with genetic background dependent male infertility. infertility may be due to reduced sperm motility in the female reproductive tract and inability to penetrate the oocyte zona pellucida (by similarity). 		Gene Ontology:

cellular component:
mitochondrion

molecular function:
molecular_function unknown

biological process:
penetration of zona pellucida

biological process:
sperm motility

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006255_01

Name:
Syndecan binding protein (syntenin)
UniGene:
Hs.200804

Gene Symbol:
SDCBP

Locus Link:
6386

Chromosome:
8
Cytoband:
8q12

Sum Func:
The protein encoded by this gene was initially identified as a molecule linking syndecan-mediated signaling to the cytoskeleton. The syntenin protein contains tandemly repeated PDZ domains that bind the cytoplasmic, C-terminal domains of a variety of transmembrane proteins. This protein may also affect cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors. The protein is primarily localized to membrane-associated adherens junctions and focal adhesions but is also found at the endoplasmic reticulum and nucleus. Alternative splicing results in multiple transcript variants encoding different isoforms. 		SP Function:
seems to function as an adapter protein. in adherens junctions may function to couple syndecans to cytoskeletal proteins or signaling components. seems to couple transcription factor sox4 to the il-5 receptor (il5ra). may also play a role in vesicular trafficking. seems to be required for the targeting of tgfa to the cell surface in the early secretory pathway. 		Gene Ontology:

biological process:
actin cytoskeleton organization and biogenesis

cellular component:
adherens junction

molecular function:
cytoskeletal adaptor activity

cellular component:
cytoskeleton

cellular component:
endoplasmic reticulum

molecular function:
interleukin-5 receptor binding

cellular component:
interleukin-5 receptor complex

biological process:
intracellular signaling cascade

cellular component:
membrane

molecular function:
neurexin binding

cellular component:
nucleus

biological process:
protein-membrane targeting

biological process:
substrate-bound cell migration, cell extension

biological process:
synaptic transmission

molecular function:
syndecan binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006357_01

Name:
Astrotactin
UniGene:
Hs.495897

Gene Symbol:
ASTN

Locus Link:
460

Chromosome:
1
Cytoband:
1q25.2

Sum Func: SP Function:
neuronal adhesion molecule that is required for glial- guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum and olfactory bulb. 		Gene Ontology:

biological process:
cell adhesion

biological process:
cell migration

cellular component:
integral to membrane

biological process:
neuronal cell adhesion

molecular function:
protein binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006776_01

Name:
Tetraspan 1
UniGene:
Hs.38972

Gene Symbol:
TSPAN-1

Locus Link:
10103

Chromosome:
1;12;17
Cytoband:
1p34.1

Sum Func:
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. 		SP Function: Gene Ontology:

biological process:
cell adhesion

biological process:
cell motility

biological process:
cell proliferation

cellular component:
integral to membrane

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006797_01

Name:
Talin 1
UniGene:
Hs.375001

Gene Symbol:
TLN1

Locus Link:
7094

Chromosome:
9
Cytoband:
9p13

Sum Func:
This gene encodes a cytoskeletal protein which is concentrated in areas of cell-substratum and cell-cell contacts. This protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. 		SP Function:
probably involved in connections of major cytoskeletal structures to the plasma membrane. high molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (by similarity). 		Gene Ontology:

molecular function:
actin binding

biological process:
cell motility

biological process:
cytoskeletal anchoring

cellular component:
cytoskeleton

cellular component:
focal adhesion

molecular function:
structural constituent of cytoskeleton

 BioCarta Pathways:

1: Apoptotic Signaling in Response to DNA Damage

2: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia

3: Integrin Signaling Pathway

4: mCalpain and friends in Cell motility

5: Rho cell motility signaling pathway

6: uCalpain and friends in Cell spread

 KEGG Pathways:
Unique id
: H007017_01

Name:
Extracellular link domain containing 1
UniGene:
Hs.246769

Gene Symbol:
XLKD1

Locus Link:
10894

Chromosome:
11
Cytoband:
11p15

Sum Func:
This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. 		SP Function: Gene Ontology:

biological process:
cell adhesion

biological process:
cell motility

biological process:
cell-matrix adhesion

molecular function:
hyaluronic acid binding

cellular component:
integral to plasma membrane

cellular component:
membrane fraction

biological process:
morphogenesis

molecular function:
receptor activity

biological process:
response to wounding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H007056_01

Name:
Talin 1
UniGene:
Hs.375001

Gene Symbol:
TLN1

Locus Link:
7094

Chromosome:
9
Cytoband:
9p13

Sum Func:
This gene encodes a cytoskeletal protein which is concentrated in areas of cell-substratum and cell-cell contacts. This protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. 		SP Function:
probably involved in connections of major cytoskeletal structures to the plasma membrane. high molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (by similarity). 		Gene Ontology:

molecular function:
actin binding

biological process:
cell motility

biological process:
cytoskeletal anchoring

cellular component:
cytoskeleton

cellular component:
focal adhesion

molecular function:
structural constituent of cytoskeleton

 BioCarta Pathways:

1: Apoptotic Signaling in Response to DNA Damage

2: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia

3: Integrin Signaling Pathway

4: mCalpain and friends in Cell motility

5: Rho cell motility signaling pathway

6: uCalpain and friends in Cell spread

 KEGG Pathways:
Unique id
: H007284_01

Name:
Chondroitin sulfate proteoglycan 4 (melanoma-associated)
UniGene:
Hs.513044

Gene Symbol:
CSPG4

Locus Link:
1464

Chromosome:
15
Cytoband:
15q23

Sum Func:
A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. 		SP Function: Gene Ontology:

biological process:
cell adhesion

biological process:
cell motility

cellular component:
integral to plasma membrane

molecular function:
structural molecule activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000633_01

Name:
Coronin, actin binding protein, 1A
UniGene:
Hs.415067

Gene Symbol:
CORO1A

Locus Link:
11151

Chromosome:
16
Cytoband:
16p11.2

Sum Func: SP Function:
may be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. in mycobacteria- infected cells, its retention on the phagosomal membrane prevents fusion between phagosomes and lysosomes. 		Gene Ontology:

molecular function:
actin binding

cellular component:
actin cytoskeleton

biological process:
cell motility

cellular component:
lysosomal membrane

biological process:
mitosis

molecular function:
structural molecule activity

biological process:
transport

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H007632_01

Name:
Tumor necrosis factor receptor superfamily, member 12A
UniGene:
Hs.355899

Gene Symbol:
TNFRSF12A

Locus Link:
51330

Chromosome:
16
Cytoband:
16p13.3

Sum Func: SP Function: Gene Ontology:

biological process:
angiogenesis

biological process:
apoptosis

biological process:
cell adhesion

biological process:
cell motility

biological process:
development

cellular component:
integral to membrane

molecular function:
protein binding

molecular function:
receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H007827_01

Name:
Rho guanine nucleotide exchange factor (GEF) 11
UniGene:
Hs.516954

Gene Symbol:
ARHGEF11

Locus Link:
9826

Chromosome:
1
Cytoband:
1q21

Sum Func:
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. 		SP Function: Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
GTPase activator activity

molecular function:
Rho guanyl nucleotide exchange factor activity

molecular function:
Rho interactor activity

biological process:
Rho protein signal transduction

biological process:
actin cytoskeleton organization and biogenesis

biological process:
cell motility

biological process:
cytokinesis

biological process:
establishment of cell polarity

cellular component:
intracellular

biological process:
positive regulation of transcription, DNA-dependent

molecular function:
protein binding

biological process:
regulation of cell growth

molecular function:
signal transducer activity

biological process:
striated muscle contraction

 BioCarta Pathways:

1: Rho cell motility signaling pathway

 KEGG Pathways:
Unique id
: H007856_01

Name:
Chemokine-like factor
UniGene:
Hs.15159

Gene Symbol:
CKLF

Locus Link:
51192

Chromosome:
16
Cytoband:
16q22.1

Sum Func:
The product of this gene is a cytokine. Cytokines are small proteins that have an essential role in the immune and inflammatory responses. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. The protein encoded by this gene is a potent chemoattractant for neutrophils, monocytes and lymphocytes. It also can stimulate the proliferation of skeletal muscle cells. This protein may play important roles in inflammation and in the regeneration of skeletal muscle. Alternatively spliced transcript variants encoding different isoforms have been identified. 		SP Function: Gene Ontology:

biological process:
cell proliferation

molecular function:
chemokine activity

biological process:
chemotaxis

cellular component:
extracellular region

cellular component:
integral to membrane

biological process:
lymphocyte chemotaxis

biological process:
macrophage chemotaxis

biological process:
neutrophil chemotaxis

biological process:
secretory pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000723_01

Name:
Angio-associated, migratory cell protein
UniGene:
Hs.83347

Gene Symbol:
AAMP

Locus Link:
14

Chromosome:
2
Cytoband:
2q35

Sum Func:
The gene product is an immunoglobulin-type protein. It is found to be expressed strongly in endothelial cells, cytotrophoblasts, and poorly differentiated colon adenocarcinoma cells found in lymphatics. The protein contains a heparin-binding domain and mediates heparin-sensitive cell adhesion. 		SP Function:
may have a function in migrating cells. 		Gene Ontology:

biological process:
cell motility

molecular function:
heparin binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H008817_01

Name:
TAO kinase 2
UniGene:
Hs.291623

Gene Symbol:
TAOK2

Locus Link:
9344

Chromosome:
16
Cytoband:
16p11.2

Sum Func: SP Function: Gene Ontology:

molecular function:
ATP binding

biological process:
actin cytoskeleton organization and biogenesis

biological process:
activation of MAPKK

biological process:
apoptosis

biological process:
cell migration

cellular component:
cytoplasmic vesicle

biological process:
focal adhesion formation

biological process:
positive regulation of JNK cascade

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
protein serine/threonine kinase activity

biological process:
protein-membrane targeting

molecular function:
protein-tyrosine kinase activity

biological process:
regulation of cell growth

biological process:
regulation of cell shape

biological process:
response to stress

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H009129_01

Name:
Angiopoietin-like 3
UniGene:
Hs.209153

Gene Symbol:
ANGPTL3

Locus Link:
27329

Chromosome:
1
Cytoband:
1p31.1-p22.3

Sum Func:
Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. Angiopoietin-like 3 is predominantly expressed in the liver, however, its exact function is not known. The ANGPTL3 protein has the characteristic structure of angiopoietins: a signal peptide, an extended helical domain predicted to form dimeric or trimeric coiled-coils, a short linker peptide, and a globular fibrinogen homology domain (FHD). ANGPTL3 also does not contain the characteristic calcium-binding motif found in other angiopoietins. 		SP Function: Gene Ontology:

biological process:
cell-matrix adhesion

molecular function:
enzyme inhibitor activity

cellular component:
extracellular region

molecular function:
integrin binding

biological process:
integrin-mediated signaling pathway

biological process:
lipid catabolism

biological process:
positive regulation of angiogenesis

biological process:
positive regulation of cell migration

biological process:
positive regulation of lipid metabolism

biological process:
triacylglycerol metabolism

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000791_01

Name:
Platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa
UniGene:
Hs.188501

Gene Symbol:
PAFAH1B2

Locus Link:
5049

Chromosome:
11
Cytoband:
11q23

Sum Func: SP Function: Gene Ontology:

molecular function:
1-alkyl-2-acetylglycerophosphocholine esterase activity

biological process:
cell motility

cellular component:
cytoplasm

molecular function:
hydrolase activity

biological process:
lipid catabolism

cellular component:
soluble fraction

 BioCarta Pathways:
 KEGG Pathways:

1: Glycerolipid Metabolism
Unique id
: H009783_01

Name:
Engulfment and cell motility 1 (ced-12 homolog, C. elegans)
UniGene:
Hs.304578

Gene Symbol:
ELMO1

Locus Link:
9844

Chromosome:
7
Cytoband:
7p14.1

Sum Func:
The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. Similarity to a C. elegans protein suggests that this protein may function in apoptosis and in cell migration. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 		SP Function:
involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. acts in association with dock1 and crk. was initially proposed to be required in complex with dock1 to activate rac rho small gtpases. may enhance the guanine nucleotide exchange factor (gef) activity of dock1. 		Gene Ontology:

biological process:
Rac protein signal transduction

molecular function:
SH3 domain binding

biological process:
actin cytoskeleton organization and biogenesis

biological process:
apoptosis

biological process:
cell motility

cellular component:
cytoskeleton

biological process:
phagocytosis, engulfment

cellular component:
plasma membrane

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000822_01

Name:
Filamin A, alpha (actin binding protein 280)
UniGene:
Hs.195464

Gene Symbol:
FLNA

Locus Link:
2316

Chromosome:
X;1
Cytoband:
Xq28

Sum Func:
Actin-binding protein, or filamin, is a 280-kD protein that crosslinks actin filaments into orthogonal networks in cortical cytoplasm and participates in the anchoring of membrane proteins for the actin cytoskeleton. Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the FLNA gene, is a widely expressed protein that regulates reorganization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes, and second messengers.[supplied by OMIM] 		SP Function:
promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. tethers cell surface- localized furin, modulates its rate of internalization and directs its intracellular trafficking (by similarity). 		Gene Ontology:

molecular function:
actin binding

cellular component:
actin cytoskeleton

biological process:
actin cytoskeleton organization and biogenesis

molecular function:
actin filament binding

biological process:
cell motility

biological process:
cell surface receptor linked signal transduction

biological process:
neurogenesis

biological process:
positive regulation of I-kappa B kinase/NF-kappaB cascade

biological process:
positive regulation of I-kappa B kinase/NF-kappaB cascade

molecular function:
signal transducer activity

molecular function:
signal transducer activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H010731_01

Name:
ADP-ribosylation factor interacting protein 2 (arfaptin 2)
UniGene:
Hs.75139

Gene Symbol:
ARFIP2

Locus Link:
23647

Chromosome:
11;17
Cytoband:
11p15

Sum Func: SP Function: Gene Ontology:

molecular function:
GTP binding

biological process:
cell motility

molecular function:
protein binding

biological process:
small GTPase mediated signal transduction

 BioCarta Pathways:

1: Rac 1 cell motility signaling pathway

 KEGG Pathways:
Unique id
: H010760_01

Name:
ABI gene family, member 3
UniGene:
Hs.130719

Gene Symbol:
ABI3

Locus Link:
51225

Chromosome:
17
Cytoband:
17q21.3

Sum Func:
This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src homology 3 (SH3) domain. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. 		SP Function: Gene Ontology:

biological process:
cell motility

cellular component:
cytoplasm

molecular function:
protein binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H010897_01

Name:
Guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
UniGene:
Hs.241431

Gene Symbol:
GNAO1

Locus Link:
26077>2775; 26077

Chromosome:
16
Cytoband:
16q13

Sum Func: SP Function:
guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. the g(o) protein function is not clear. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
GTP binding

molecular function:
GTPase activity

biological process:
axon guidance

biological process:
muscle contraction

biological process:
neurogenesis

molecular function:
receptor signaling protein activity

biological process:
signal transduction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H011196_01

Name:
Myosin regulatory light chain interacting protein
UniGene:
Hs.484738

Gene Symbol:
MYLIP

Locus Link:
29116

Chromosome:
6
Cytoband:
6p23-p22.3

Sum Func:
The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MIR) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. 		SP Function: Gene Ontology:

biological process:
cell motility

molecular function:
cytoskeletal protein binding

biological process:
neurogenesis

cellular component:
non-muscle myosin

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H011225_01

Name:
Serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2
UniGene:
Hs.445555

Gene Symbol:
SERPINI2

Locus Link:
5276

Chromosome:
3
Cytoband:
3q26.1-q26.2

Sum Func:
The protein encoded by this gene is a member of the serine protease inhibitor (serpin) superfamily made up of proteins which play central roles in the regulation of a wide variety of physiological processes, including coagulation, fibrinolysis, development, malignancy and inflammation. The gene product may have a role in a growth-control, possibly growth-suppressing pathway and, when impaired, may be involved in pancreatic carcinogenesis. The protein is a member of the plasminogen activator inhibitor-1 family, a subset of the serpin superfamily whose members act as tissue-specific tPA inhibitors. 		SP Function: Gene Ontology:

biological process:
cell motility

molecular function:
serine-type endopeptidase inhibitor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000901_01

Name:
Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B
UniGene:
Hs.82222

Gene Symbol:
SEMA3B

Locus Link:
7869

Chromosome:
3
Cytoband:
3p21.3

Sum Func:
The semaphorin/collapsin family of molecules plays a critical role in the guidance of growth cones during neuronal development. The secreted protein encoded by this gene family member is important in axonal guidance and has been shown to act as a tumor suppressor by inducing apoptosis. 		SP Function:
inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons (by similarity). 		Gene Ontology:

biological process:
axon guidance

biological process:
cell-cell signaling

biological process:
development

cellular component:
endoplasmic reticulum

cellular component:
membrane

molecular function:
receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H011466_01

Name:
TAO kinase 2
UniGene:
Hs.291623

Gene Symbol:
TAOK2

Locus Link:
9344

Chromosome:
16
Cytoband:
16p11.2

Sum Func: SP Function: Gene Ontology:

molecular function:
ATP binding

biological process:
actin cytoskeleton organization and biogenesis

biological process:
activation of MAPKK

biological process:
apoptosis

biological process:
cell migration

cellular component:
cytoplasmic vesicle

biological process:
focal adhesion formation

biological process:
positive regulation of JNK cascade

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
protein serine/threonine kinase activity

biological process:
protein-membrane targeting

molecular function:
protein-tyrosine kinase activity

biological process:
regulation of cell growth

biological process:
regulation of cell shape

biological process:
response to stress

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000967_01

Name:
Thrombospondin 4
UniGene:
Hs.211426

Gene Symbol:
THBS4

Locus Link:
7060

Chromosome:
5
Cytoband:
5q13

Sum Func:
The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. Studies of the rat counterpart suggest that this protein may be involved in local signaling in the developing and adult nervous system. 		SP Function:
adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. can bind to fibrinogen, fibronectin, laminin and type v collagen. 		Gene Ontology:

molecular function:
calcium ion binding

molecular function:
calcium ion binding

biological process:
cell adhesion

cellular component:
extracellular matrix (sensu Metazoa)

cellular component:
extracellular region

molecular function:
heparin binding

molecular function:
protein binding

molecular function:
structural molecule activity

biological process:
substrate-bound cell migration, cell extension

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H012622_01

Name:
Actin related protein 2/3 complex, subunit 1B, 41kDa
UniGene:
Hs.489284

Gene Symbol:
ARPC1B

Locus Link:
11333>10095; 11333

Chromosome:
7
Cytoband:
7q22.1

Sum Func:
This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. 		SP Function:
part of a complex implicated in the control of actin polymerization in cells. 		Gene Ontology:

cellular component:
Arp2/3 protein complex

biological process:
cell motility

molecular function:
structural constituent of cytoskeleton

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H013049_01

Name:
Dynein, axonemal, heavy polypeptide 3
UniGene:
Hs.526500

Gene Symbol:
DNAH3

Locus Link:
55567

Chromosome:
16
Cytoband:
16p12.3

Sum Func: SP Function: Gene Ontology:

cellular component:
axonemal dynein complex

biological process:
ciliary or flagellar motility

molecular function:
microtubule motor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H013061_01

Name:
Cerebral endothelial cell adhesion molecule 1
UniGene:
Hs.495230

Gene Symbol:
CEECAM1

Locus Link:
51148

Chromosome:
9
Cytoband:
9q34.11

Sum Func: SP Function: Gene Ontology:

biological process:
cell motility

cellular component:
integral to membrane

biological process:
leukocyte cell adhesion

biological process:
lipopolysaccharide biosynthesis

cellular component:
membrane fraction

cellular component:
plasma membrane

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H013086_01

Name:
Oligophrenin 1
UniGene:
Hs.128824

Gene Symbol:
OPHN1

Locus Link:
4983

Chromosome:
X
Cytoband:
Xq12

Sum Func:
Oligophrenin 1 has 25 exons and encodes a Rho-GTPase-activating protein. The Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for non-specific X-linked mental retardation. 		SP Function:
stimulates gtp hydrolysis of members of the rho family. could activates gtpase targets that are known to affect cell migration and outgrowth of axons and dendrites. 		Gene Ontology:

molecular function:
Rho GTPase activator activity

biological process:
axon guidance

biological process:
neurogenesis

biological process:
signal transduction

biological process:
substrate-bound cell migration, cell extension

 BioCarta Pathways:

1: Rho cell motility signaling pathway

 KEGG Pathways:
Unique id
: H013376_01

Name:
Capping protein (actin filament) muscle Z-line, alpha 2
UniGene:
Hs.446123

Gene Symbol:
CAPZA2

Locus Link:
830

Chromosome:
7
Cytoband:
7q31.2-q31.3

Sum Func:
The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. 		SP Function:
f-actin capping proteins bind in a ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. 		Gene Ontology:

cellular component:
F-actin capping protein complex

molecular function:
actin binding

biological process:
actin cytoskeleton organization and biogenesis

biological process:
cell motility

biological process:
protein complex assembly

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H013890_01

Name:
Slit homolog 2 (Drosophila)
UniGene:
Hs.29802

Gene Symbol:
SLIT2

Locus Link:
9353

Chromosome:
4
Cytoband:
4p15.2

Sum Func: SP Function: Gene Ontology:

molecular function:
calcium ion binding

biological process:
cell adhesion

biological process:
chemotaxis

cellular component:
extracellular space

biological process:
glia cell migration

biological process:
induction of negative chemotaxis

biological process:
induction of negative chemotaxis

biological process:
mesoderm migration

biological process:
motor axon guidance

biological process:
neurogenesis

biological process:
neuronal cell recognition

biological process:
perception of smell

biological process:
positive regulation of axonogenesis

molecular function:
protein binding

molecular function:
receptor binding

molecular function:
structural molecule activity

biological process:
ureteric bud development

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H013901_01

Name:
P21(CDKN1A)-activated kinase 4
UniGene:
Hs.20447

Gene Symbol:
PAK4

Locus Link:
10298

Chromosome:
19
Cytoband:
19q13.2

Sum Func:
PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. 		SP Function:
activates the jnk pathway. implicated in the reorganization of the actin cytoskeleton and in the formation of filopodia. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
Golgi apparatus

biological process:
cell motility

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

biological process:
signal transduction

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H015282_01

Name:
Dynein, axonemal, heavy polypeptide 9
UniGene:
Hs.526552

Gene Symbol:
DNAH9

Locus Link:
1770

Chromosome:
17
Cytoband:
17p12

Sum Func:
This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. 		SP Function: Gene Ontology:

molecular function:
ATP binding

cellular component:
axonemal dynein complex

biological process:
cell motility

cellular component:
cytoskeleton

cellular component:
dynein complex

molecular function:
microtubule motor activity

molecular function:
microtubule motor activity

biological process:
microtubule-based movement

molecular function:
nucleoside-triphosphatase activity

molecular function:
nucleotide binding

biological process:
spermatogenesis

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H015328_01

Name:
F11 receptor
UniGene:
Hs.517293

Gene Symbol:
F11R

Locus Link:
50848

Chromosome:
1
Cytoband:
1q21.2-q21.3

Sum Func:
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Five transcript variants encoding two different isoforms have been found for this gene. 		SP Function:
seems to plays a role in epithelial tight junction formation. appears early in primordial forms of cell junctions and recruits pard3. the association of the pard6-pard3 complex may prevent the interaction of pard3 with jam1, thereby preventing tight junction assembly (by similarity). plays a role in regulating monocyte transmigration involved in integrity of epithelial barrier. involved in platelet activation. 		Gene Ontology:

biological process:
cell motility

biological process:
inflammatory response

cellular component:
integral to membrane

cellular component:
tight junction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H015920_01

Name:
Thioredoxin
UniGene:
Hs.435136

Gene Symbol:
TXN

Locus Link:
7295

Chromosome:
9
Cytoband:
9q31

Sum Func: SP Function:
adf augments the expression of the interleukin-2 receptor tac (il2r/p55). 		Gene Ontology:

biological process:
cell motility

biological process:
cell proliferation

biological process:
cell-cell signaling

biological process:
electron transport

molecular function:
electron transporter activity

biological process:
signal transduction

molecular function:
thiol-disulfide exchange intermediate activity

 BioCarta Pathways:

1: Chaperones modulate interferon Signaling Pathway

 KEGG Pathways:
Unique id
: H016249_01

Name:
Laminin, alpha 4
UniGene:
Hs.520323

Gene Symbol:
LAMA4

Locus Link:
3910

Chromosome:
6
Cytoband:
6q21

Sum Func:
Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Also, alternative splicing involving the first intron in the 5' UTR, and laminin alpha 4 like isoforms have been noted, however, the full-length nature of these products is not known. 		SP Function:
binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. 		Gene Ontology:

molecular function:
extracellular matrix structural constituent

cellular component:
laminin-1

molecular function:
protein binding

molecular function:
receptor binding

biological process:
regulation of cell adhesion

biological process:
regulation of cell migration

biological process:
regulation of embryonic development

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H016544_01

Name:
Chemokine (C-X-C motif) ligand 16
UniGene:
Hs.82407

Gene Symbol:
CXCL16

Locus Link:
58191

Chromosome:
17
Cytoband:
17p13

Sum Func: SP Function:
acts as a scavenger receptor on macrophages, which specifically binds to oxldl (oxidized low density lipoprotein), suggesting that it may be involved in pathophysiology such as atherogenesis (by similarity). induces a strong chemotactic response. induces calcium mobilization. binds to cxcr6/bonzo. 		Gene Ontology:

molecular function:
chemokine activity

biological process:
chemotaxis

cellular component:
extracellular region

biological process:
immune response

cellular component:
integral to membrane

biological process:
lymphocyte chemotaxis

biological process:
receptor mediated endocytosis

molecular function:
scavenger receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H001239_01

Name:
Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F
UniGene:
Hs.25887

Gene Symbol:
SEMA4F

Locus Link:
10505

Chromosome:
2
Cytoband:
2p13.1

Sum Func: SP Function:
has growth cone collapse activity against retinal ganglion-cell axons (by similarity). 		Gene Ontology:

biological process:
axon guidance

biological process:
cell-cell signaling

biological process:
development

cellular component:
integral to plasma membrane

cellular component:
membrane fraction

biological process:
neurogenesis

molecular function:
receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H001342_01

Name:
Lymphocyte-specific protein 1
UniGene:
Hs.56729

Gene Symbol:
LSP1

Locus Link:
4046

Chromosome:
11
Cytoband:
11p15.5

Sum Func: SP Function:
not known. the authors believe that it may be involved in transmembrane signal transduction through a postulated calcium- binding function, but the evidence for the existence of a calcium- binding region is weak. 		Gene Ontology:

molecular function:
actin binding

cellular component:
actin cytoskeleton

biological process:
cell motility

biological process:
cellular defense response

molecular function:
signal transducer activity

biological process:
signal transduction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000220_01

Name:
Guanine nucleotide binding protein (G protein), alpha 13
UniGene:
Hs.515018

Gene Symbol:
GNA13

Locus Link:
10672

Chromosome:
17
Cytoband:
17q24.3

Sum Func: SP Function:
guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
GTP binding

molecular function:
GTPase activity

biological process:
cell motility

cellular component:
membrane

molecular function:
protein binding

molecular function:
receptor signaling protein activity

biological process:
signal transduction

 BioCarta Pathways:

1: Thrombin signaling and protease-activated receptors

2: PKC-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase

 KEGG Pathways:
Unique id
: H001765_01

Name:
Myristoylated alanine-rich protein kinase C substrate
UniGene:
Hs.519909

Gene Symbol:
MARCKS

Locus Link:
4082

Chromosome:
6
Cytoband:
6q22.2

Sum Func:
The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament crosslinking protein. Phosphorylation by protein kinase C or binding to calcium-calmodulin inhibits its association with actin and with the plasma membrane, leading to its presence in the cytoplasm. The protein is thought to be involved in cell motility, phagocytosis, membrane trafficking and mitogenesis. 		SP Function:
marcks is the most prominent cellular substrate for protein kinase c. this protein binds calmodulin, actin, and synapsin. marcks is a filamentous (f) actin cross-linking protein. 		Gene Ontology:

cellular component:
actin cytoskeleton

molecular function:
actin filament binding

molecular function:
calmodulin binding

biological process:
cell motility

cellular component:
plasma membrane

 BioCarta Pathways:

1: Effects of calcineurin in Keratinocyte Differentiation

 KEGG Pathways:
Unique id
: H002110_01

Name:
Coagulation factor II (thrombin) receptor
UniGene:
Hs.482562

Gene Symbol:
F2R

Locus Link:
2149

Chromosome:
5
Cytoband:
5q13

Sum Func:
Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. 		SP Function:
high affinity receptor for activated thrombin coupled to g proteins that stimulate phosphoinositide hydrolysis. may play a role in platelets activation and in vascular development. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

cellular component:
Golgi apparatus

biological process:
STAT protein nuclear translocation

biological process:
apoptosis

biological process:
blood coagulation

biological process:
caspase activation

biological process:
cell motility

cellular component:
integral to plasma membrane

biological process:
morphogenesis

biological process:
positive regulation of I-kappa B kinase/NF-kappaB cascade

molecular function:
receptor binding

biological process:
regulation of cell cycle

biological process:
response to wounding

molecular function:
rhodopsin-like receptor activity

biological process:
signal transduction

molecular function:
thrombin receptor activity

biological process:
tyrosine phosphorylation of STAT protein

 BioCarta Pathways:

1: Acute Myocardial Infarction

2: Extrinsic Prothrombin Activation Pathway

3: Fibrinolysis Pathway

4: Intrinsic Prothrombin Activation Pathway

 KEGG Pathways:
Unique id
: H002381_01

Name:
CD9 antigen (p24)
UniGene:
Hs.114286

Gene Symbol:
CD9

Locus Link:
928

Chromosome:
12
Cytoband:
12p13.3

Sum Func:
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It can modulate cell adhesion and migration and also trigger platelet activation and aggregation. In addition, the protein appears to promote muscle cell fusion and support myotube maintenance. 		SP Function:
involved in platelet activation and aggregation. regulates paranodal junction formation. required for gamete fusion. involved in cell adhesion, cell motility and tumor metastasis. 		Gene Ontology:

biological process:
cell adhesion

biological process:
cell motility

biological process:
fusion of sperm to egg plasma membrane

cellular component:
integral to plasma membrane

biological process:
paranodal junction formation

biological process:
platelet activation

molecular function:
protein binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002477_01

Name:
Neogenin homolog 1 (chicken)
UniGene:
Hs.388613

Gene Symbol:
NEO1

Locus Link:
4756

Chromosome:
15
Cytoband:
15q22.3-q23

Sum Func: SP Function:
may be involved as a regulatory protein in the transition of undifferentiated proliferating cells to their differentiated state. may also function as a cell adhesion molecule in a broad spectrum of embryonic and adult tissues. 		Gene Ontology:

biological process:
cell adhesion

biological process:
cell motility

biological process:
cell-cell signaling

biological process:
development

cellular component:
integral to plasma membrane

molecular function:
protein binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002710_01

Name:
Interleukin 10
UniGene:
Hs.193717

Gene Symbol:
IL10

Locus Link:
3586

Chromosome:
1
Cytoband:
1q31-q32

Sum Func:
The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. 		SP Function:
inhibits the synthesis of a number of cytokines, including ifn-gamma, il-2, il-3, tnf and gm-csf produced by activated macrophages and by helper t cells. 		Gene Ontology:

biological process:
B-cell differentiation

biological process:
B-cell proliferation

biological process:
T-helper 2 type immune response

biological process:
anti-apoptosis

biological process:
cell-cell signaling

molecular function:
cytokine activity

biological process:
cytoplasmic sequestering of NF-kappaB

cellular component:
extracellular region

biological process:
hemopoiesis

biological process:
immune cell chemotaxis

biological process:
immune response

molecular function:
interleukin-10 receptor binding

biological process:
negative regulation of MHC class II biosynthesis

biological process:
negative regulation of T-cell proliferation

biological process:
negative regulation of interferon-alpha biosynthesis

biological process:
negative regulation of interferon-gamma biosynthesis

biological process:
negative regulation of nitric oxide biosynthesis

biological process:
regulation of isotype switching

 BioCarta Pathways:

1: Antigen Dependent B Cell Activation

2: Cytokine Network

3: Dendritic cells in regulating TH1 and TH2 Development

4: IL-10 Anti-inflammatory Signaling Pathway

5: Cytokines and Inflammatory Response

 KEGG Pathways:
Unique id
: H002722_01

Name:
Mitogen-activated protein kinase kinase 1
UniGene:
Hs.145442

Gene Symbol:
MAP2K1

Locus Link:
5604

Chromosome:
15
Cytoband:
15q22.1-q22.33

Sum Func:
The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. 		SP Function:
catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a thr-glu-tyr sequence located in map kinases. activates erk1 and erk2 map kinases. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
MAP kinase kinase activity

biological process:
cell motility

biological process:
chemotaxis

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
protein-tyrosine kinase activity

biological process:
signal transduction

molecular function:
transferase activity

 BioCarta Pathways:

1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling

2: CCR3 signaling in Eosinophils

3: TPO Signaling Pathway

4: Anthrax Toxin Mechanism of Action

5: Roles of �-arrestin-dependent Recruitment of Src Kinases in GPCR Signaling

6: Role of �-arrestins in the activation and targeting of MAP kinases

7: BCR Signaling Pathway

8: Bioactive Peptide Induced Signaling Pathway

9: Cadmium induces DNA synthesis and proliferation in macrophages

10: Phosphorylation of MEK1 by cdk5/p35 down regulates the MAP kinase pathway

11: Ceramide Signaling Pathway

12: CXCR4 Signaling Pathway

13: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia

14: EGF Signaling Pathway

15: Map Kinase Inactivation of SMRT Corepressor

16: EPO Signaling Pathway

17: Erk1/Erk2 Mapk Signaling pathway

18: fMLP induced chemokine gene expression in HMC-1 cells

19: Fc Epsilon Receptor I Signaling in Mast Cells

20: Growth Hormone Signaling Pathway

21: Inhibition of Cellular Proliferation by Gleevec

22: Signaling Pathway from G-Protein Families

23: Human Cytomegalovirus and Map Kinase Pathways

24: Role of ERBB2 in Signal Transduction and Oncology

25: IGF-1 Signaling Pathway

26: Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation

27: IL 2 signaling pathway

28: IL 3 signaling pathway

29: IL 6 signaling pathway

30: Insulin Signaling Pathway

31: Integrin Signaling Pathway

32: Keratinocyte Differentiation

33: Role of MAL in Rho-Mediated Activation of SRF

34: MAP Kinase Signaling Pathway

35: Signaling of Hepatocyte Growth Factor Receptor

36: NFAT and Hypertrophy of the heart (Transcription in the broken heart)

37: Nerve growth factor pathway (NGF)

38: Ras-Independent pathway in NK cell-mediated cytotoxicity

39: PDGF Signaling Pathway

40: Links between Pyk2 and Map Kinases

41: Ras Signaling Pathway

42: Aspirin Blocks Signaling Pathway Involved in Platelet Activation

43: Sprouty regulation of tyrosine kinase signals

44: T Cell Receptor Signaling Pathway

45: TGF beta signaling pathway

 KEGG Pathways:
Unique id
: H002750_01

Name:
Neuropeptide Y
UniGene:
Hs.1832

Gene Symbol:
NPY

Locus Link:
4852

Chromosome:
7
Cytoband:
7p15.1

Sum Func: SP Function:
npy is implicated in the control of feeding and in secretion of gonadotrophin-release hormone. 		Gene Ontology:

molecular function:
G-protein coupled receptor activity

biological process:
G-protein signaling, coupled to cyclic nucleotide second messenger

molecular function:
calcium channel regulator activity

biological process:
calcium ion transport

cellular component:
cell

biological process:
cell motility

biological process:
cell proliferation

biological process:
circulation

biological process:
digestion

cellular component:
extracellular region

biological process:
feeding behavior

molecular function:
neuropeptide hormone activity

biological process:
neuropeptide signaling pathway

biological process:
synaptic transmission

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002800_01

Name:
Connective tissue growth factor
UniGene:
Hs.410037

Gene Symbol:
CTGF

Locus Link:
1490

Chromosome:
6;16
Cytoband:
6q23.1

Sum Func: SP Function:
major connective tissue mitoattractant secreted by vascular endothelial cells. promotes proliferation and differentiation of chondrocytes. mediates heparin- and divalent cation-dependent cell adhesion in many cell types including fibroblasts, myofibroblasts, endothelial and epithelial cells. enhances fibroblast growth factor-induced dna synthesis. 		Gene Ontology:

biological process:
DNA metabolism

biological process:
cell adhesion

biological process:
cell growth and/or maintenance

biological process:
cell motility

biological process:
epidermis development

cellular component:
extracellular matrix (sensu Metazoa)

cellular component:
extracellular space

molecular function:
heparin binding

molecular function:
insulin-like growth factor binding

cellular component:
plasma membrane

molecular function:
protein binding

biological process:
regulation of cell growth

biological process:
response to wounding

cellular component:
soluble fraction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002869_01

Name:
Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa
UniGene:
Hs.77318

Gene Symbol:
PAFAH1B1

Locus Link:
5048

Chromosome:
17
Cytoband:
17p13.3

Sum Func:
PAFAH1B1 was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. PAFAH1B1 encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acetylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. 		SP Function:
probably involved in nuclear migration during cell division. participates in the process of neuronal cell differentiation or brain development, possibly by through its role in nuclear migration of differentiating neurons. may participate in targeting cytoplasmic dynein to the microtubule plus ends, thereby playing an essential role in dynein-mediated microtubule sliding. non-catalytic subunit of a acetylhydrolase complex, a complex that inactivates platelet-activating factor (paf) by removing the acetyl group at the sn-2 position. 		Gene Ontology:

biological process:
cell motility

biological process:
cytokinesis

cellular component:
cytoskeleton

biological process:
lipid metabolism

biological process:
mitosis

biological process:
neurogenesis

biological process:
signal transduction

 BioCarta Pathways:
 KEGG Pathways:

1: Glycerolipid Metabolism
Unique id
: H002891_01

Name:
Chemokine (C-C motif) ligand 4
UniGene:
Hs.75703

Gene Symbol:
CCL4

Locus Link:
6351

Chromosome:
17
Cytoband:
17q12

Sum Func: SP Function:
monokine with inflammatory and chemokinetic properties. binds to ccr5 and to ccr8. one of the major HIV suppressive factors produced by cd8+ t cells. recombinant mip-1-beta induces a dose-dependent inhibition of different strains of hiv-1, hiv-2, and simian immunodeficiency virus (siv). the processed form mip-1- beta(3-69) retains the abilities to induce down-modulation of surface expression of the chemokine receptor ccr5 and to inhibit the ccr5-mediated entry of hiv-1 in t cells. mip-1-beta(3-69) is also a ligand for ccr1 and ccr2 isoform b. 		Gene Ontology:

biological process:
cell adhesion

biological process:
cell growth and/or maintenance

biological process:
cell motility

biological process:
cell-cell signaling

molecular function:
chemokine activity

biological process:
chemotaxis

biological process:
establishment and/or maintenance of cell polarity

cellular component:
extracellular space

biological process:
immune response

biological process:
inflammatory response

molecular function:
receptor signaling protein tyrosine kinase activity

biological process:
response to virus

biological process:
signal transduction

biological process:
viral genome replication

 BioCarta Pathways:

1: Pertussis toxin-insensitive CCR5 Signaling in Macrophage

2: Selective expression of chemokine receptors during T-cell polarization

 KEGG Pathways:
Unique id
: H002895_01

Name:
Mitogen-activated protein kinase 14
UniGene:
Hs.485233

Gene Symbol:
MAPK14

Locus Link:
1432

Chromosome:
6
Cytoband:
6p21.3-p21.2

Sum Func:
The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 		SP Function:
responds to activation by environmental stress, pro- inflammatory cytokines and lipopolysaccharide (lps) by phosphorylating a number of transcription factors, such as elk1 and atf2 and several downstream kinases, such as mapkapk2 and mapkapk5. plays a critical role in the production of some cytokines, for example il-6. may play a role in stabilization of epo mrna during hypoxic stress. isoform mxi2 activation is stimulated by mitogens and oxidative stress and only poorly phosphorylates elk1 and atf2. isoform exip may play a role in the early onset of apoptosis. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
MAP kinase activity

molecular function:
MAP kinase kinase activity

molecular function:
MP kinase activity

biological process:
antimicrobial humoral response (sensu Vertebrata)

biological process:
cell motility

biological process:
cell surface receptor linked signal transduction

biological process:
chemotaxis

cellular component:
cytoplasm

cellular component:
nucleus

biological process:
protein amino acid phosphorylation

biological process:
protein kinase cascade

molecular function:
protein serine/threonine kinase activity

molecular function:
protein-tyrosine kinase activity

biological process:
response to stress

molecular function:
transferase activity

 BioCarta Pathways:

1: The 4-1BB-dependent immune response

2: Pertussis toxin-insensitive CCR5 Signaling in Macrophage

3: GATA3 participate in activating the Th2 cytokine genes expression

4: IL12 and Stat4 Dependent Signaling Pathway in Th1 Development

5: SARS Coronavirus Protease

6: Oxidative Stress Induced Gene Expression Via Nrf2

7: BCR Signaling Pathway

8: Bioactive Peptide Induced Signaling Pathway

9: Transcription factor CREB and its extracellular signals

10: Regulation of MAP Kinase Pathways Through Dual Specificity Phosphatases

11: Map Kinase Inactivation of SMRT Corepressor

12: Regulation of eIF4e and p70 S6 Kinase

13: fMLP induced chemokine gene expression in HMC-1 cells

14: Human Cytomegalovirus and Map Kinase Pathways

15: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)

16: Signal transduction through IL1R

17: Keratinocyte Differentiation

18: MAP Kinase Signaling Pathway

19: NFAT and Hypertrophy of the heart (Transcription in the broken heart)

20: NFkB activation by Nontypeable Hemophilus influenzae

21: p38 MAPK Signaling Pathway

22: Links between Pyk2 and Map Kinases

23: TNF/Stress Related Signaling

24: TACI and BCMA stimulation of B cell immune responses.

25: Toll-Like Receptor Pathway

26: TSP-1 Induced Apoptosis in Microvascular Endothelial Cell

 KEGG Pathways:
Unique id
: H002922_01

Name:
Annexin A1
UniGene:
Hs.494173

Gene Symbol:
ANXA1

Locus Link:
301

Chromosome:
9
Cytoband:
9q12-q21.2

Sum Func:
Annexin I belongs to a family of Ca(2+)-dependent phospholipid binding proteins which have a molecular weight of approximately 35,000 to 40,000 and are preferentially located on the cytosolic face of the plasma membrane. Annexin I protein has an apparent relative molecular mass of 40 kDa, with phospholipase A2 inhibitory activity. Since phospholipase A2 is required for the biosynthesis of the potent mediators of inflammation, prostaglandins and leukotrienes, annexin I may have potential anti-inflammatory activity. 		SP Function:
calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis. this protein regulates phospholipase a2 activity. it seems to bind from two to four calcium ions with high affinity. 		Gene Ontology:

molecular function:
calcium ion binding

molecular function:
calcium-dependent phospholipid binding

biological process:
cell motility

biological process:
cell surface receptor linked signal transduction

biological process:
inflammatory response

biological process:
lipid metabolism

molecular function:
phospholipase A2 inhibitor activity

molecular function:
receptor binding

 BioCarta Pathways:

1: Corticosteroids and cardioprotection

 KEGG Pathways:
Unique id
: H002931_01

Name:
Selectin L (lymphocyte adhesion molecule 1)
UniGene:
Hs.82848

Gene Symbol:
SELL

Locus Link:
6402

Chromosome:
1
Cytoband:
1q23-q25

Sum Func:
SELL is a cell surface component that is a member of a family of adhesion/homing receptors which play important roles in leukocyte-endothelial cell interactions. The molecule is composed of multiple domains: one homologous to lectins, one to epidermal growth factor, and two to the consensus repeat units found in C3/C4 binding proteins. 		SP Function:
cell surface adhesion protein. mediate the adherence of lymphocytes to endothelial cells of high endothelial venules in peripheral lymph nodes. 		Gene Ontology:

biological process:
cell adhesion

biological process:
cell motility

cellular component:
integral to plasma membrane

molecular function:
protein binding

molecular function:
sugar binding

 BioCarta Pathways:

1: Adhesion and Diapedesis of Granulocytes

2: Adhesion and Diapedesis of Lymphocytes

3: Adhesion Molecules on Lymphocyte

4: Monocyte and its Surface Molecules

5: Neutrophil and Its Surface Molecules

 KEGG Pathways:
Unique id
: H002936_01

Name:
Macrophage stimulating 1 receptor (c-met-related tyrosine kinase)
UniGene:
Hs.517973

Gene Symbol:
MST1R

Locus Link:
4486

Chromosome:
3
Cytoband:
3p21.3

Sum Func: SP Function:
receptor for macrophage stimulating protein (msp). has a tyrosine-protein kinase activity. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell motility

biological process:
defense response

biological process:
fertilization (sensu Metazoa)

cellular component:
integral to plasma membrane

molecular function:
macrophage colony stimulating factor receptor activity

biological process:
positive regulation of cell proliferation

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

 BioCarta Pathways:

1: Msp/Ron Receptor Signaling Pathway

 KEGG Pathways:
Unique id
: H002937_01

Name:
Fibronectin 1
UniGene:
Hs.203717

Gene Symbol:
FN1

Locus Link:
2335

Chromosome:
2
Cytoband:
2q34

Sum Func:
This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants. However, the full-length nature of some variants has not been determined. 		SP Function:
fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, dna, and actin. fibronectins are involved in cell adhesion, cell motility, opsonization, wound healing, and maintenance of cell shape. 		Gene Ontology:

biological process:
acute-phase response

biological process:
cell adhesion

biological process:
cell migration

molecular function:
collagen binding

molecular function:
extracellular matrix structural constituent

cellular component:
extracellular region

cellular component:
extracellular region

molecular function:
heparin binding

biological process:
metabolism

molecular function:
oxidoreductase activity

biological process:
response to wounding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002944_01

Name:
Interleukin 8
UniGene:
Hs.624

Gene Symbol:
IL8

Locus Link:
3576

Chromosome:
4
Cytoband:
4q13-q21

Sum Func:
The protein encoded by this gene is a member of the CXC chemokine family. This chemokine is one of the major mediators of the inflammatory response. This chemokine is secreted by several cell types. It functions as a chemoattractant, and is also a potent angiogenic factor. This gene is believed to play a role in the pathogenesis of bronchiolitis, a common respiratory tract disease caused by viral infection. This gene and other ten members of the CXC chemokine gene family form a chemokine gene cluster in a region mapped to chromosome 4q. 		SP Function:
il-8 is a chemotactic factor that attracts neutrophils, basophils, and t-cells, but not monocytes. it is also involved in neutrophil activation. it is released from several cell types in response to an inflammatory stimulus. il-8(6-77) has a 5-10-fold higher activity on neutrophil activation, and il-8(7-77) has a higher affinity to receptors cxcr1 and cxcr2 as compared to il- 8(1-77), respectively. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
angiogenesis

biological process:
calcium-mediated signaling

biological process:
cell cycle arrest

biological process:
cell motility

biological process:
cell-cell signaling

molecular function:
chemokine activity

biological process:
chemotaxis

cellular component:
extracellular space

biological process:
immune response

biological process:
induction of positive chemotaxis

molecular function:
interleukin-8 receptor binding

biological process:
intracellular signaling cascade

biological process:
negative regulation of cell proliferation

biological process:
neutrophil activation

biological process:
neutrophil chemotaxis

molecular function:
protein binding

biological process:
regulation of cell adhesion

biological process:
regulation of retroviral genome replication

cellular component:
soluble fraction

 BioCarta Pathways:

1: Cells and Molecules involved in local acute inflammatory response

2: Cytokine Network

3: Free Radical Induced Apoptosis

4: Adhesion and Diapedesis of Granulocytes

5: IL 17 Signaling Pathway

6: Cytokines and Inflammatory Response

7: Adhesion and Diapedesis of Lymphocytes

8: NFkB activation by Nontypeable Hemophilus influenzae

9: Proepithelin Conversion to Epithelin and Wound Repair Control

10: Regulation of hematopoiesis by cytokines

 KEGG Pathways:
Unique id
: H002952_01

Name:
Teratocarcinoma-derived growth factor 1
UniGene:
Hs.385870

Gene Symbol:
TDGF1

Locus Link:
6997

Chromosome:
3;X
Cytoband:
3p21.31

Sum Func: SP Function:
could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm. 		Gene Ontology:

biological process:
activation of MAPK

biological process:
branching morphogenesis

biological process:
cell differentiation

cellular component:
cell surface

biological process:
determination of anterior/posterior axis, embryo

biological process:
embryonic development

cellular component:
extrinsic to plasma membrane

molecular function:
growth factor activity

biological process:
heart development

biological process:
mammary gland development

biological process:
negative regulation of apoptosis

biological process:
peptidyl-serine phosphorylation

biological process:
positive regulation of cell migration

biological process:
positive regulation of cell proliferation

biological process:
positive regulation of peptidyl-tyrosine phosphorylation

biological process:
regulation of signal transduction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002976_01

Name:
Chemokine (C-X-C motif) receptor 3
UniGene:
Hs.198252

Gene Symbol:
CXCR3

Locus Link:
2833

Chromosome:
X
Cytoband:
Xq13

Sum Func:
CD183 is a G protein-coupled receptor with selectivity for three chemokines, termed IP10 (interferon-g-inducible 10 kDa protein), Mig (monokine induced by interferon-g) and I-TAC (interferon-inducible T cell a-chemoattractant). IP10, Mig and I-TAC belong to the structural subfamily of CXC chemokines, in which a single amino acid residue separates the first two of four highly conserved Cys residues. Historically, CD183 is the third CXC chemokine receptor discovered and, therefore, commonly designated as CXCR3. Binding of chemokines to CD183 induces cellular responses that are involved in leukocyte traffic, most notably integrin activation, cytoskeletal changes and chemotactic migration. Inhibition by Bordetella pertussis toxin suggests that heterotrimeric G protein of the Gi-subclass couple to CD183. Signal transduction has not been further analyzed but may include the same enzymes that were identified in the signaling cascade induced by other chemokine receptors. As a consequence of chemokine-induced cellular desensitization (phosphorylation-dependent receptor internalization), cellular responses are typically rapid and short in duration. Cellular responsiveness is restored after dephosphorylation of intracellular receptors and subsequent recycling to the cell surface. A hallmark of CD183 is its prominent expression in in vitro cultured effector/memory T cells, and in T cells present in many types of inflamed tissues. In addition, IP10, Mig and I-TAC are commonly produced by local cells in inflammatory lesion, suggesting that CD183 and its chemokines participate in the recruitment of inflammatory cells. Therefore, CD183 is a target for the development of small molecular weight antagonists, which may be used in the treatment of diverse inflammatory diseases. [PROW] 		SP Function:
receptor for scyb9/mig, scyb10/inp10 and scyb11/itac. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

molecular function:
C-X-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
antimicrobial humoral response (sensu Vertebrata)

biological process:
cell adhesion

biological process:
cell motility

biological process:
chemotaxis

cellular component:
cytoplasm

biological process:
cytosolic calcium ion concentration elevation

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:

1: IL12 and Stat4 Dependent Signaling Pathway in Th1 Development

2: mCalpain and friends in Cell motility

3: Selective expression of chemokine receptors during T-cell polarization

4: NO2-dependent IL 12 Pathway in NK cells

 KEGG Pathways:
Unique id
: H002997_01

Name:
Vascular endothelial growth factor
UniGene:
Hs.73793

Gene Symbol:
VEGF

Locus Link:
7422

Chromosome:
6;19;16;1;17
Cytoband:
6p12

Sum Func:
Many polypeptide mitogens, such as basic fibroblast growth factor (FGFB; MIM 134920) and platelet-derived growth factors (MIM 173430, MIM 190040), are active on a wide range of different cell types. In contrast, vascular endothelial growth factor is a mitogen primarily for vascular endothelial cells. It is, however, structurally related to platelet-derived growth factor.[supplied by OMIM] 		SP Function:
growth factor active in angiogenesis, vasculogenesis and endothelial cell growth. induces endothelial cell proliferation, promotes cell migration, inhibits apoptosis, and induces permeabilization of blood vessels. binds to the vegfr1/flt-1 and vegfr2/kdr receptors, heparan sulfate and heparin. neuropilin-1 binds isoforms vegf-165 and vegf-145. 		Gene Ontology:

biological process:
angiogenesis

biological process:
angiogenesis

biological process:
cell migration

biological process:
cell proliferation

cellular component:
extracellular matrix (sensu Metazoa)

molecular function:
extracellular matrix binding

molecular function:
growth factor activity

molecular function:
heparin binding

biological process:
induction of positive chemotaxis

cellular component:
membrane

biological process:
negative regulation of apoptosis

biological process:
neurogenesis

biological process:
neurogenesis

biological process:
positive regulation of cell proliferation

biological process:
positive regulation of vascular endothelial growth factor receptor signaling pathway

molecular function:
protein homodimerization activity

biological process:
regulation of cell cycle

biological process:
response to stress

biological process:
signal transduction

molecular function:
vascular endothelial growth factor receptor binding

biological process:
vasculogenesis

 BioCarta Pathways:

1: Hypoxia-Inducible Factor in the Cardiovascular System

2: Actions of Nitric Oxide in the Heart

3: VEGF, Hypoxia, and Angiogenesis

 KEGG Pathways:
Unique id
: H003114_01

Name:
3-hydroxy-3-methylglutaryl-Coenzyme A reductase
UniGene:
Hs.11899

Gene Symbol:
HMGCR

Locus Link:
3156

Chromosome:
5
Cytoband:
5q13.3-q14

Sum Func:
HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. 		SP Function:
this transmembrane glycoprotein is involved in the control of cholesterol biosynthesis. it is the rate-limiting enzyme of sterol biosynthesis. 		Gene Ontology:

biological process:
biosynthesis

biological process:
cholesterol biosynthesis

cellular component:
endoplasmic reticulum membrane

biological process:
germ cell migration

biological process:
gonad development

molecular function:
hydroxymethylglutaryl-CoA reductase (NADPH) activity

cellular component:
integral to membrane

biological process:
lipid metabolism

cellular component:
membrane fraction

molecular function:
oxidoreductase activity

cellular component:
peroxisome

 BioCarta Pathways:
 KEGG Pathways:

1: Sterol Biosynthesis
Unique id
: H003130_01

Name:
Interleukin 8 receptor, beta
UniGene:
Hs.846

Gene Symbol:
IL8RB

Locus Link:
3579

Chromosome:
2
Cytoband:
2q35

Sum Func:
The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. 		SP Function:
receptor to interleukin-8, which is a powerful neutrophils chemotactic factor. binding of il-8 to the receptor causes activation of neutrophils. this response is mediated via a g-protein that activate a phosphatidylinositol-calcium second messenger system. this receptor binds to il-8 with a high affinity and to gro/mgsa and nap-2 also with a high affinity. 		Gene Ontology:

biological process:
G-protein signaling, coupled to IP3 second messenger (phospholipase C activating)

biological process:
cell motility

biological process:
cell proliferation

biological process:
cellular defense response

biological process:
chemotaxis

cellular component:
cytoplasm

biological process:
inflammatory response

cellular component:
integral to plasma membrane

molecular function:
interleukin-8 receptor activity

molecular function:
rhodopsin-like receptor activity

molecular function:
signal transducer activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003139_01

Name:
Integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)
UniGene:
Hs.375957

Gene Symbol:
ITGB2

Locus Link:
3689

Chromosome:
21
Cytoband:
21q22.3

Sum Func:
The ITGB2 protein product is the integrin beta chain beta 2. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. For example, beta 2 combines with the alpha L chain to form the integrin LFA-1, and combines with the alpha M chain to form the integrin Mac-1. Integrins are known to participate in cell adhesion as well as cell-surface mediated signaling. 		SP Function:
integrin alpha-l/beta-2 is a receptor for icam1, icam2, icam3 and icam4. integrins alpha-m/beta-2 and alpha-x/beta-2 are receptors for the ic3b fragment of the third complement component and for fibrinogen. integrin alpha-x/beta-2 recognizes the sequence g-p-r in fibrinogen alpha-chain. integrin alpha-m/beta-2 recognizes p1 and p2 peptides of fibrinogen gamma chain. integrin alpha-m/beta-2 is also a receptor for factor x. integrin alpha- d/beta-2 is a receptor for icam3 and vcam1. 		Gene Ontology:

biological process:
antimicrobial humoral response (sensu Vertebrata)

biological process:
apoptosis

biological process:
cell-cell signaling

biological process:
cell-matrix adhesion

biological process:
development

biological process:
inflammatory response

cellular component:
integral to membrane

cellular component:
integrin complex

cellular component:
integrin complex

biological process:
integrin-mediated signaling pathway

biological process:
integrin-mediated signaling pathway

biological process:
leukocyte cell adhesion

biological process:
neutrophil chemotaxis

molecular function:
protein binding

molecular function:
protein kinase binding

molecular function:
receptor activity

biological process:
regulation of cell shape

biological process:
regulation of peptidyl-tyrosine phosphorylation

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003158_01

Name:
Mitogen-activated protein kinase 8
UniGene:
Hs.522924

Gene Symbol:
MAPK8

Locus Link:
5599

Chromosome:
10
Cytoband:
10q11.22

Sum Func:
The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various cell stimuli, and targets specific transcription factors, and thus mediates immediate-early gene expression in response to cell stimuli. The activation of this kinase by tumor-necrosis factor alpha (TNF-alpha) is found to be required for TNF-alpha induced apoptosis. This kinase is also involved in UV radiation induced apoptosis, which is thought to be related to cytochrome c-mediated cell death pathway. Studies of the mouse counterpart of this gene suggested that this kinase play a key role in T cell proliferation, apoptosis and differentiation. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. 		SP Function:
jnk1 isoforms display different binding patterns: beta-1 preferentially binds to c-jun, whereas alpha-1, alpha-2, and beta- 2 have a similar low level of binding to both c-jun or atf2. however, there is no correlation between binding and phosphorylation, which is achieved at about the same efficiency by all isoforms. 		Gene Ontology:

molecular function:
ATP binding

biological process:
JNK cascade

molecular function:
JUN kinase activity

molecular function:
MAP kinase activity

biological process:
cell motility

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

biological process:
response to stress

biological process:
signal transduction

molecular function:
transferase activity

 BioCarta Pathways:

1: The 4-1BB-dependent immune response

2: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling

3: Pertussis toxin-insensitive CCR5 Signaling in Macrophage

4: HIV-I Nef: negative effector of Fas and TNF

5: IL12 and Stat4 Dependent Signaling Pathway in Th1 Development

6: Agrin in Postsynaptic Differentiation

7: Oxidative Stress Induced Gene Expression Via Nrf2

8: ATM Signaling Pathway

9: BCR Signaling Pathway

10: Bioactive Peptide Induced Signaling Pathway

11: Ceramide Signaling Pathway

12: Regulation of MAP Kinase Pathways Through Dual Specificity Phosphatases

13: EGF Signaling Pathway

14: EPO Signaling Pathway

15: FAS signaling pathway ( CD95 )

16: Fc Epsilon Receptor I Signaling in Mast Cells

17: Inhibition of Cellular Proliferation by Gleevec

18: IGF-1 Signaling Pathway

19: Signal transduction through IL1R

20: IL 2 signaling pathway

21: Insulin Signaling Pathway

22: Integrin Signaling Pathway

23: Keratinocyte Differentiation

24: Role of MAL in Rho-Mediated Activation of SRF

25: MAP Kinase Signaling Pathway

26: Signaling of Hepatocyte Growth Factor Receptor

27: NFAT and Hypertrophy of the heart (Transcription in the broken heart)

28: Nerve growth factor pathway (NGF)

29: Hypoxia and p53 in the Cardiovascular system

30: PDGF Signaling Pathway

31: Links between Pyk2 and Map Kinases

32: Bone Remodelling

33: TNF/Stress Related Signaling

34: TACI and BCMA stimulation of B cell immune responses.

35: T Cell Receptor Signaling Pathway

36: TNFR1 Signaling Pathway

37: Toll-Like Receptor Pathway

 KEGG Pathways:
Unique id
: H003332_01

Name:
V-crk sarcoma virus CT10 oncogene homolog (avian)-like
UniGene:
Hs.5613

Gene Symbol:
CRKL

Locus Link:
1399

Chromosome:
22
Cytoband:
22q11

Sum Func:
v-CRK avian sarcoma virus CT10-homolog-like contains one SH2 domain and two SH3 domains. CRKL has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase and plays a role in fibroblast transformation by BCR-ABL. In addition, CRKL has oncogenic potential. 		SP Function:
may mediate the transduction of intracellular signals. 		Gene Ontology:

biological process:
JNK cascade

biological process:
Ras protein signal transduction

molecular function:
SH3/SH2 adaptor protein activity

biological process:
cell motility

biological process:
intracellular signaling cascade

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
signal transducer activity

 BioCarta Pathways:

1: Inhibition of Cellular Proliferation by Gleevec

2: IL-2 Receptor Beta Chain in T cell Activation

3: Integrin Signaling Pathway

4: Signaling of Hepatocyte Growth Factor Receptor

5: Links between Pyk2 and Map Kinases

 KEGG Pathways:
Unique id
: H003344_01

Name:
Abl interactor 2
UniGene:
Hs.471156

Gene Symbol:
ABI2

Locus Link:
10152

Chromosome:
2
Cytoband:
2q33

Sum Func: SP Function: Gene Ontology:

biological process:
actin polymerization and/or depolymerization

biological process:
cell migration

cellular component:
cytoplasm

molecular function:
cytoskeletal adaptor activity

biological process:
cytoskeleton organization and biogenesis

cellular component:
filopodium

molecular function:
kinase binding

cellular component:
lamellipodium

cellular component:
nucleus

 BioCarta Pathways:

1: Y branching of actin filaments

 KEGG Pathways:
Unique id
: H003496_01

Name:
Chemokine (C-X-C motif) ligand 10
UniGene:
Hs.413924

Gene Symbol:
CXCL10

Locus Link:
3627

Chromosome:
4
Cytoband:
4q21

Sum Func:
This gene encodes the interferon (gamma)-induced protein of 10kDa, a chemokine of the CXC subfamily that is one of the ligands for the receptor CXCR3. The binding of this protein to CXCR3 causes pleiotropic effects, including stimulation of monocytes, natural killer and T-cell migration, and modulation of adhesion molecule expression. 		SP Function:
chemotactic for monocytes and t lymphocytes. binds to cxcr3. 		Gene Ontology:

molecular function:
cAMP-dependent protein kinase regulator activity

biological process:
cell motility

biological process:
cell surface receptor linked signal transduction

biological process:
cell-cell signaling

molecular function:
chemokine activity

biological process:
chemotaxis

biological process:
circulation

cellular component:
extracellular region

biological process:
immune response

biological process:
inflammatory response

biological process:
muscle development

biological process:
positive regulation of cell proliferation

cellular component:
soluble fraction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003533_01

Name:
Paxillin
UniGene:
Hs.446336

Gene Symbol:
PXN

Locus Link:
5829

Chromosome:
12;13
Cytoband:
12q24.31

Sum Func: SP Function:
cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). 		Gene Ontology:

biological process:
cell motility

biological process:
cell-matrix adhesion

cellular component:
cytoskeleton

cellular component:
microtubule associated complex

molecular function:
protein binding

biological process:
signal complex formation

biological process:
signal transduction

molecular function:
zinc ion binding

 BioCarta Pathways:

1: Agrin in Postsynaptic Differentiation

2: Cell to Cell Adhesion Signaling

3: Apoptotic Signaling in Response to DNA Damage

4: CXCR4 Signaling Pathway

5: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia

6: Integrin Signaling Pathway

7: mCalpain and friends in Cell motility

8: Signaling of Hepatocyte Growth Factor Receptor

9: uCalpain and friends in Cell spread

10: VEGF, Hypoxia, and Angiogenesis

 KEGG Pathways:
Unique id
: H003564_01

Name:
Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
UniGene:
Hs.528721

Gene Symbol:
SEMA3E

Locus Link:
9723

Chromosome:
7
Cytoband:
7q21.11

Sum Func: SP Function: Gene Ontology:

biological process:
cell motility

biological process:
development

cellular component:
extracellular space

cellular component:
membrane

biological process:
neurogenesis

molecular function:
receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000396_01

Name:
Fasciculation and elongation protein zeta 1 (zygin I)
UniGene:
Hs.224008

Gene Symbol:
FEZ1

Locus Link:
9638

Chromosome:
11
Cytoband:
11q24.2

Sum Func:
This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. 		SP Function:
may be involved in axonal outgrowth as component of the network of molecules that regulate cellular morphology and axon guidance machinery. able to restore partial locomotion and axonal fasciculation to c.elegans unc-76 mutants in germ-line transformation experiments. 		Gene Ontology:

biological process:
axon guidance

biological process:
cell adhesion

biological process:
neurogenesis

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003652_01

Name:
Apolipoprotein E
UniGene:
Hs.515465

Gene Symbol:
APOE

Locus Link:
348

Chromosome:
19
Cytoband:
19q13.2

Sum Func:
Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The APOE gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in apolipoprotein E result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. 		SP Function:
mediates the binding, internalization, and catabolism of lipoprotein particles. it can serve as a ligand for the ldl (apo b/e) receptor and for the specific apo-e receptor (chylomicron remnant) of hepatic tissues. 		Gene Ontology:

molecular function:
antioxidant activity

molecular function:
apolipoprotein E receptor binding

molecular function:
beta-amyloid binding

biological process:
cholesterol homeostasis

biological process:
circulation

cellular component:
cytoplasm

biological process:
cytoskeleton organization and biogenesis

cellular component:
extracellular region

cellular component:
extracellular region

molecular function:
heparin binding

biological process:
induction of apoptosis

biological process:
intracellular transport

biological process:
learning and/or memory

molecular function:
lipid binding

biological process:
lipid transport

molecular function:
lipid transporter activity

biological process:
lipoprotein metabolism

biological process:
regulation of axon extension

biological process:
regulation of neuronal synaptic plasticity

biological process:
response to reactive oxygen species

biological process:
synaptic transmission, cholinergic

molecular function:
tau protein binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003708_01

Name:
Thioredoxin
UniGene:
Hs.435136

Gene Symbol:
TXN

Locus Link:
7295

Chromosome:
9
Cytoband:
9q31

Sum Func: SP Function:
adf augments the expression of the interleukin-2 receptor tac (il2r/p55). 		Gene Ontology:

biological process:
cell motility

biological process:
cell proliferation

biological process:
cell-cell signaling

biological process:
electron transport

molecular function:
electron transporter activity

biological process:
signal transduction

molecular function:
thiol-disulfide exchange intermediate activity

 BioCarta Pathways:

1: Chaperones modulate interferon Signaling Pathway

 KEGG Pathways:
Unique id
: H003854_01

Name:
Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)
UniGene:
Hs.113916

Gene Symbol:
BLR1

Locus Link:
643

Chromosome:
11
Cytoband:
11q23.3

Sum Func:
This gene was identified as a gene specifically expressed in Burkitt's lymphoma and lymphatic tissues. The protein encoded by this gene is predicted to be a seven transmembrane G protein- coupled receptor and belongs to the CXC chemokine receptor family. BLC, a B-lymphocyte chemoattractant, was identified to be a specific ligand for this receptor. Studies of this gene and its mouse counterpart strongly suggest the essential function of this gene in B cell migration and localization within specific anatomic compartments, such as follicles in lymph nodes as well as in spleen. Two alternatively spliced variants of this gene exist. 		SP Function:
cytokine receptor that binds to blc. blr1 exerts possibly a regulatory function in burkitt lymphoma (bl) lymphomagenesis and/or b-cell differentiation. it is a potential candidate for cell-cell interaction, and activation of mature b- lymphocytes in lymphatic tissues. 		Gene Ontology:

biological process:
B-cell activation

molecular function:
C-X-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
angiotensin type II receptor activity

biological process:
cell motility

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000427_01

Name:
Phosphatidic acid phosphatase type 2B
UniGene:
Hs.405156

Gene Symbol:
PPAP2B

Locus Link:
8613

Chromosome:
1
Cytoband:
1pter-p22.1

Sum Func:
The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is a membrane glycoprotein localized at the cell plasma membrane. It has been shown to actively hydrolyze extracellular lysophosphatidic acid and short-chain phosphatidic acid. The expression of this gene is found to be enhanced by epidermal growth factor in Hela cells. Alternatively spliced transcript variants encoding the same protein have been described. 		SP Function: Gene Ontology:

biological process:
cell growth and/or maintenance

biological process:
germ cell migration

molecular function:
hydrolase activity

cellular component:
integral to membrane

biological process:
lipid metabolism

molecular function:
phosphatidate phosphatase activity

molecular function:
phosphoprotein phosphatase activity

 BioCarta Pathways:
 KEGG Pathways:

1: Glycerolipid Metabolism

2: Phospholipid Degradation
Unique id
: H004361_01

Name:
Thioredoxin
UniGene:
Hs.435136

Gene Symbol:
TXN

Locus Link:
7295

Chromosome:
9
Cytoband:
9q31

Sum Func: SP Function:
adf augments the expression of the interleukin-2 receptor tac (il2r/p55). 		Gene Ontology:

biological process:
cell motility

biological process:
cell proliferation

biological process:
cell-cell signaling

biological process:
electron transport

molecular function:
electron transporter activity

biological process:
signal transduction

molecular function:
thiol-disulfide exchange intermediate activity

 BioCarta Pathways:

1: Chaperones modulate interferon Signaling Pathway

 KEGG Pathways:
Unique id
: H000459_01

Name:
Serine protease inhibitor, Kunitz type, 2
UniGene:
Hs.31439

Gene Symbol:
SPINT2

Locus Link:
10653

Chromosome:
19;11
Cytoband:
19q13.1

Sum Func: SP Function:
inhibitor of hgf activator. also inhibits plasmin, plasma and tissue kallikrein, and factor xia. 		Gene Ontology:

biological process:
cell motility

cellular component:
extracellular region

cellular component:
integral to membrane

molecular function:
serine-type endopeptidase inhibitor activity

cellular component:
soluble fraction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H004577_01

Name:
Vasodilator-stimulated phosphoprotein
UniGene:
Hs.515469

Gene Symbol:
VASP

Locus Link:
7408

Chromosome:
19
Cytoband:
19q13.2-q13.3

Sum Func: SP Function:
actin- and profilin-binding microfilament-associated protein. may act in concert with profilin to convey signal transduction to actin filament production. 		Gene Ontology:

molecular function:
actin binding

cellular component:
actin cytoskeleton

biological process:
cell motility

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H004767_01

Name:
Transmembrane 4 superfamily member 8
UniGene:
Hs.5062

Gene Symbol:
TM4SF8

Locus Link:
10099

Chromosome:
15
Cytoband:
15q24.3

Sum Func:
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. Two alternative transcripts encoding different isoforms have been described. 		SP Function: Gene Ontology:

biological process:
cell motility

biological process:
cell proliferation

cellular component:
integral to membrane

cellular component:
integral to membrane

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H005666_01

Name:
Talin 1
UniGene:
Hs.375001

Gene Symbol:
TLN1

Locus Link:
7094

Chromosome:
9
Cytoband:
9p13

Sum Func:
This gene encodes a cytoskeletal protein which is concentrated in areas of cell-substratum and cell-cell contacts. This protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. 		SP Function:
probably involved in connections of major cytoskeletal structures to the plasma membrane. high molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (by similarity). 		Gene Ontology:

molecular function:
actin binding

biological process:
cell motility

biological process:
cytoskeletal anchoring

cellular component:
cytoskeleton

cellular component:
focal adhesion

molecular function:
structural constituent of cytoskeleton

 BioCarta Pathways:

1: Apoptotic Signaling in Response to DNA Damage

2: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia

3: Integrin Signaling Pathway

4: mCalpain and friends in Cell motility

5: Rho cell motility signaling pathway

6: uCalpain and friends in Cell spread

 KEGG Pathways:
Unique id
: H005714_01

Name:
A kinase (PRKA) anchor protein 4
UniGene:
Hs.97633

Gene Symbol:
AKAP4

Locus Link:
8852

Chromosome:
X
Cytoband:
Xp11.2

Sum Func:
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 		SP Function: Gene Ontology:

cellular component:
cAMP-dependent protein kinase complex

biological process:
cell motility

cellular component:
cytoskeleton

biological process:
fertilization (sensu Metazoa)

molecular function:
protein kinase A binding

molecular function:
protein kinase A binding

biological process:
signal transduction

biological process:
signal transduction

biological process:
sperm motility

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H005765_01

Name:
A kinase (PRKA) anchor protein 3
UniGene:
Hs.98397

Gene Symbol:
AKAP3

Locus Link:
10566

Chromosome:
12
Cytoband:
12p13.3

Sum Func:
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family, and is expressed in testis only. The encoded protein contains an RII-binding domain, and is predicted to participate in protein-protein interactions with the R-subunit of the PKA. This protein is localized to the ribs of the fibrous sheath in the principal piece of the sperm tail. It may function as a regulator of both motility- and head-associated functions such as capacitation and the acrosome reaction. 		SP Function:
may function as a regulator of both motility- and head- associated functions such as capacitation and the acrosome reaction. 		Gene Ontology:

biological process:
acrosome reaction

biological process:
cell motility

molecular function:
protein kinase A binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H005850_01

Name:
Dynein, axonemal, heavy polypeptide 9
UniGene:
Hs.526552

Gene Symbol:
DNAH9

Locus Link:
1770

Chromosome:
17
Cytoband:
17p12

Sum Func:
This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. 		SP Function: Gene Ontology:

molecular function:
ATP binding

cellular component:
axonemal dynein complex

biological process:
cell motility

cellular component:
cytoskeleton

cellular component:
dynein complex

molecular function:
microtubule motor activity

molecular function:
microtubule motor activity

biological process:
microtubule-based movement

molecular function:
nucleoside-triphosphatase activity

molecular function:
nucleotide binding

biological process:
spermatogenesis

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H005884_01

Name:
Mitochondrial capsule selenoprotein
UniGene:
Hs.111850

Gene Symbol:
MCSP

Locus Link:
4184

Chromosome:
1
Cytoband:
1q21.3

Sum Func:
Sperm mitochondria differ in morphology and subcellular localization from those of somatic cells. They are elongated, flattened, and arranged circumferentially to form a helical coiled sheath in the midpiece of the sperm flagellum. The protein encoded by this gene localizes to the capsule associated with the mitochondrial outer membranes and is thought to function in the organization and stabilization of the helical structure of the sperm's mitochondrial sheath. 		SP Function:
involved in sperm motility. its absence is associated with genetic background dependent male infertility. infertility may be due to reduced sperm motility in the female reproductive tract and inability to penetrate the oocyte zona pellucida (by similarity). 		Gene Ontology:

cellular component:
mitochondrion

molecular function:
molecular_function unknown

biological process:
penetration of zona pellucida

biological process:
sperm motility

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006255_01

Name:
Syndecan binding protein (syntenin)
UniGene:
Hs.200804

Gene Symbol:
SDCBP

Locus Link:
6386

Chromosome:
8
Cytoband:
8q12

Sum Func:
The protein encoded by this gene was initially identified as a molecule linking syndecan-mediated signaling to the cytoskeleton. The syntenin protein contains tandemly repeated PDZ domains that bind the cytoplasmic, C-terminal domains of a variety of transmembrane proteins. This protein may also affect cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors. The protein is primarily localized to membrane-associated adherens junctions and focal adhesions but is also found at the endoplasmic reticulum and nucleus. Alternative splicing results in multiple transcript variants encoding different isoforms. 		SP Function:
seems to function as an adapter protein. in adherens junctions may function to couple syndecans to cytoskeletal proteins or signaling components. seems to couple transcription factor sox4 to the il-5 receptor (il5ra). may also play a role in vesicular trafficking. seems to be required for the targeting of tgfa to the cell surface in the early secretory pathway. 		Gene Ontology:

biological process:
actin cytoskeleton organization and biogenesis

cellular component:
adherens junction

molecular function:
cytoskeletal adaptor activity

cellular component:
cytoskeleton

cellular component:
endoplasmic reticulum

molecular function:
interleukin-5 receptor binding

cellular component:
interleukin-5 receptor complex

biological process:
intracellular signaling cascade

cellular component:
membrane

molecular function:
neurexin binding

cellular component:
nucleus

biological process:
protein-membrane targeting

biological process:
substrate-bound cell migration, cell extension

biological process:
synaptic transmission

molecular function:
syndecan binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006357_01

Name:
Astrotactin
UniGene:
Hs.495897

Gene Symbol:
ASTN

Locus Link:
460

Chromosome:
1
Cytoband:
1q25.2

Sum Func: SP Function:
neuronal adhesion molecule that is required for glial- guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum and olfactory bulb. 		Gene Ontology:

biological process:
cell adhesion

biological process:
cell migration

cellular component:
integral to membrane

biological process:
neuronal cell adhesion

molecular function:
protein binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006776_01

Name:
Tetraspan 1
UniGene:
Hs.38972

Gene Symbol:
TSPAN-1

Locus Link:
10103

Chromosome:
1;12;17
Cytoband:
1p34.1

Sum Func:
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. 		SP Function: Gene Ontology:

biological process:
cell adhesion

biological process:
cell motility

biological process:
cell proliferation

cellular component:
integral to membrane

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006797_01

Name:
Talin 1
UniGene:
Hs.375001

Gene Symbol:
TLN1

Locus Link:
7094

Chromosome:
9
Cytoband:
9p13

Sum Func:
This gene encodes a cytoskeletal protein which is concentrated in areas of cell-substratum and cell-cell contacts. This protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. 		SP Function:
probably involved in connections of major cytoskeletal structures to the plasma membrane. high molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (by similarity). 		Gene Ontology:

molecular function:
actin binding

biological process:
cell motility

biological process:
cytoskeletal anchoring

cellular component:
cytoskeleton

cellular component:
focal adhesion

molecular function:
structural constituent of cytoskeleton

 BioCarta Pathways:

1: Apoptotic Signaling in Response to DNA Damage

2: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia

3: Integrin Signaling Pathway

4: mCalpain and friends in Cell motility

5: Rho cell motility signaling pathway

6: uCalpain and friends in Cell spread

 KEGG Pathways:
Unique id
: H007017_01

Name:
Extracellular link domain containing 1
UniGene:
Hs.246769

Gene Symbol:
XLKD1

Locus Link:
10894

Chromosome:
11
Cytoband:
11p15

Sum Func:
This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. 		SP Function: Gene Ontology:

biological process:
cell adhesion

biological process:
cell motility

biological process:
cell-matrix adhesion

molecular function:
hyaluronic acid binding

cellular component:
integral to plasma membrane

cellular component:
membrane fraction

biological process:
morphogenesis

molecular function:
receptor activity

biological process:
response to wounding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H007056_01

Name:
Talin 1
UniGene:
Hs.375001

Gene Symbol:
TLN1

Locus Link:
7094

Chromosome:
9
Cytoband:
9p13

Sum Func:
This gene encodes a cytoskeletal protein which is concentrated in areas of cell-substratum and cell-cell contacts. This protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. 		SP Function:
probably involved in connections of major cytoskeletal structures to the plasma membrane. high molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (by similarity). 		Gene Ontology:

molecular function:
actin binding

biological process:
cell motility

biological process:
cytoskeletal anchoring

cellular component:
cytoskeleton

cellular component:
focal adhesion

molecular function:
structural constituent of cytoskeleton

 BioCarta Pathways:

1: Apoptotic Signaling in Response to DNA Damage

2: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia

3: Integrin Signaling Pathway

4: mCalpain and friends in Cell motility

5: Rho cell motility signaling pathway

6: uCalpain and friends in Cell spread

 KEGG Pathways:
Unique id
: H007284_01

Name:
Chondroitin sulfate proteoglycan 4 (melanoma-associated)
UniGene:
Hs.513044

Gene Symbol:
CSPG4

Locus Link:
1464

Chromosome:
15
Cytoband:
15q23

Sum Func:
A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. 		SP Function: Gene Ontology:

biological process:
cell adhesion

biological process:
cell motility

cellular component:
integral to plasma membrane

molecular function:
structural molecule activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000633_01

Name:
Coronin, actin binding protein, 1A
UniGene:
Hs.415067

Gene Symbol:
CORO1A

Locus Link:
11151

Chromosome:
16
Cytoband:
16p11.2

Sum Func: SP Function:
may be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. in mycobacteria- infected cells, its retention on the phagosomal membrane prevents fusion between phagosomes and lysosomes. 		Gene Ontology:

molecular function:
actin binding

cellular component:
actin cytoskeleton

biological process:
cell motility

cellular component:
lysosomal membrane

biological process:
mitosis

molecular function:
structural molecule activity

biological process:
transport

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H007632_01

Name:
Tumor necrosis factor receptor superfamily, member 12A
UniGene:
Hs.355899

Gene Symbol:
TNFRSF12A

Locus Link:
51330

Chromosome:
16
Cytoband:
16p13.3

Sum Func: SP Function: Gene Ontology:

biological process:
angiogenesis

biological process:
apoptosis

biological process:
cell adhesion

biological process:
cell motility

biological process:
development

cellular component:
integral to membrane

molecular function:
protein binding

molecular function:
receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H007827_01

Name:
Rho guanine nucleotide exchange factor (GEF) 11
UniGene:
Hs.516954

Gene Symbol:
ARHGEF11

Locus Link:
9826

Chromosome:
1
Cytoband:
1q21

Sum Func:
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. 		SP Function: Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
GTPase activator activity

molecular function:
Rho guanyl nucleotide exchange factor activity

molecular function:
Rho interactor activity

biological process:
Rho protein signal transduction

biological process:
actin cytoskeleton organization and biogenesis

biological process:
cell motility

biological process:
cytokinesis

biological process:
establishment of cell polarity

cellular component:
intracellular

biological process:
positive regulation of transcription, DNA-dependent

molecular function:
protein binding

biological process:
regulation of cell growth

molecular function:
signal transducer activity

biological process:
striated muscle contraction

 BioCarta Pathways:

1: Rho cell motility signaling pathway

 KEGG Pathways:
Unique id
: H007856_01

Name:
Chemokine-like factor
UniGene:
Hs.15159

Gene Symbol:
CKLF

Locus Link:
51192

Chromosome:
16
Cytoband:
16q22.1

Sum Func:
The product of this gene is a cytokine. Cytokines are small proteins that have an essential role in the immune and inflammatory responses. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. The protein encoded by this gene is a potent chemoattractant for neutrophils, monocytes and lymphocytes. It also can stimulate the proliferation of skeletal muscle cells. This protein may play important roles in inflammation and in the regeneration of skeletal muscle. Alternatively spliced transcript variants encoding different isoforms have been identified. 		SP Function: Gene Ontology:

biological process:
cell proliferation

molecular function:
chemokine activity

biological process:
chemotaxis

cellular component:
extracellular region

cellular component:
integral to membrane

biological process:
lymphocyte chemotaxis

biological process:
macrophage chemotaxis

biological process:
neutrophil chemotaxis

biological process:
secretory pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000723_01

Name:
Angio-associated, migratory cell protein
UniGene:
Hs.83347

Gene Symbol:
AAMP

Locus Link:
14

Chromosome:
2
Cytoband:
2q35

Sum Func:
The gene product is an immunoglobulin-type protein. It is found to be expressed strongly in endothelial cells, cytotrophoblasts, and poorly differentiated colon adenocarcinoma cells found in lymphatics. The protein contains a heparin-binding domain and mediates heparin-sensitive cell adhesion. 		SP Function:
may have a function in migrating cells. 		Gene Ontology:

biological process:
cell motility

molecular function:
heparin binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H008817_01

Name:
TAO kinase 2
UniGene:
Hs.291623

Gene Symbol:
TAOK2

Locus Link:
9344

Chromosome:
16
Cytoband:
16p11.2

Sum Func: SP Function: Gene Ontology:

molecular function:
ATP binding

biological process:
actin cytoskeleton organization and biogenesis

biological process:
activation of MAPKK

biological process:
apoptosis

biological process:
cell migration

cellular component:
cytoplasmic vesicle

biological process:
focal adhesion formation

biological process:
positive regulation of JNK cascade

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
protein serine/threonine kinase activity

biological process:
protein-membrane targeting

molecular function:
protein-tyrosine kinase activity

biological process:
regulation of cell growth

biological process:
regulation of cell shape

biological process:
response to stress

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H009129_01

Name:
Angiopoietin-like 3
UniGene:
Hs.209153

Gene Symbol:
ANGPTL3

Locus Link:
27329

Chromosome:
1
Cytoband:
1p31.1-p22.3

Sum Func:
Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. Angiopoietin-like 3 is predominantly expressed in the liver, however, its exact function is not known. The ANGPTL3 protein has the characteristic structure of angiopoietins: a signal peptide, an extended helical domain predicted to form dimeric or trimeric coiled-coils, a short linker peptide, and a globular fibrinogen homology domain (FHD). ANGPTL3 also does not contain the characteristic calcium-binding motif found in other angiopoietins. 		SP Function: Gene Ontology:

biological process:
cell-matrix adhesion

molecular function:
enzyme inhibitor activity

cellular component:
extracellular region

molecular function:
integrin binding

biological process:
integrin-mediated signaling pathway

biological process:
lipid catabolism

biological process:
positive regulation of angiogenesis

biological process:
positive regulation of cell migration

biological process:
positive regulation of lipid metabolism

biological process:
triacylglycerol metabolism

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000791_01

Name:
Platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa
UniGene:
Hs.188501

Gene Symbol:
PAFAH1B2

Locus Link:
5049

Chromosome:
11
Cytoband:
11q23

Sum Func: SP Function: Gene Ontology:

molecular function:
1-alkyl-2-acetylglycerophosphocholine esterase activity

biological process:
cell motility

cellular component:
cytoplasm

molecular function:
hydrolase activity

biological process:
lipid catabolism

cellular component:
soluble fraction

 BioCarta Pathways:
 KEGG Pathways:

1: Glycerolipid Metabolism
Unique id
: H009783_01

Name:
Engulfment and cell motility 1 (ced-12 homolog, C. elegans)
UniGene:
Hs.304578

Gene Symbol:
ELMO1

Locus Link:
9844

Chromosome:
7
Cytoband:
7p14.1

Sum Func:
The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. Similarity to a C. elegans protein suggests that this protein may function in apoptosis and in cell migration. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 		SP Function:
involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. acts in association with dock1 and crk. was initially proposed to be required in complex with dock1 to activate rac rho small gtpases. may enhance the guanine nucleotide exchange factor (gef) activity of dock1. 		Gene Ontology:

biological process:
Rac protein signal transduction

molecular function:
SH3 domain binding

biological process:
actin cytoskeleton organization and biogenesis

biological process:
apoptosis

biological process:
cell motility

cellular component:
cytoskeleton

biological process:
phagocytosis, engulfment

cellular component:
plasma membrane

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000822_01

Name:
Filamin A, alpha (actin binding protein 280)
UniGene:
Hs.195464

Gene Symbol:
FLNA

Locus Link:
2316

Chromosome:
X;1
Cytoband:
Xq28

Sum Func:
Actin-binding protein, or filamin, is a 280-kD protein that crosslinks actin filaments into orthogonal networks in cortical cytoplasm and participates in the anchoring of membrane proteins for the actin cytoskeleton. Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the FLNA gene, is a widely expressed protein that regulates reorganization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes, and second messengers.[supplied by OMIM] 		SP Function:
promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. tethers cell surface- localized furin, modulates its rate of internalization and directs its intracellular trafficking (by similarity). 		Gene Ontology:

molecular function:
actin binding

cellular component:
actin cytoskeleton

biological process:
actin cytoskeleton organization and biogenesis

molecular function:
actin filament binding

biological process:
cell motility

biological process:
cell surface receptor linked signal transduction

biological process:
neurogenesis

biological process:
positive regulation of I-kappa B kinase/NF-kappaB cascade

biological process:
positive regulation of I-kappa B kinase/NF-kappaB cascade

molecular function:
signal transducer activity

molecular function:
signal transducer activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H010731_01

Name:
ADP-ribosylation factor interacting protein 2 (arfaptin 2)
UniGene:
Hs.75139

Gene Symbol:
ARFIP2

Locus Link:
23647

Chromosome:
11;17
Cytoband:
11p15

Sum Func: SP Function: Gene Ontology:

molecular function:
GTP binding

biological process:
cell motility

molecular function:
protein binding

biological process:
small GTPase mediated signal transduction

 BioCarta Pathways:

1: Rac 1 cell motility signaling pathway

 KEGG Pathways:
Unique id
: H010760_01

Name:
ABI gene family, member 3
UniGene:
Hs.130719

Gene Symbol:
ABI3

Locus Link:
51225

Chromosome:
17
Cytoband:
17q21.3

Sum Func:
This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src homology 3 (SH3) domain. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. 		SP Function: Gene Ontology:

biological process:
cell motility

cellular component:
cytoplasm

molecular function:
protein binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H010897_01

Name:
Guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
UniGene:
Hs.241431

Gene Symbol:
GNAO1

Locus Link:
26077>2775; 26077

Chromosome:
16
Cytoband:
16q13

Sum Func: SP Function:
guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. the g(o) protein function is not clear. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
GTP binding

molecular function:
GTPase activity

biological process:
axon guidance

biological process:
muscle contraction

biological process:
neurogenesis

molecular function:
receptor signaling protein activity

biological process:
signal transduction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H011196_01

Name:
Myosin regulatory light chain interacting protein
UniGene:
Hs.484738

Gene Symbol:
MYLIP

Locus Link:
29116

Chromosome:
6
Cytoband:
6p23-p22.3

Sum Func:
The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MIR) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. 		SP Function: Gene Ontology:

biological process:
cell motility

molecular function:
cytoskeletal protein binding

biological process:
neurogenesis

cellular component:
non-muscle myosin

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H011225_01

Name:
Serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2
UniGene:
Hs.445555

Gene Symbol:
SERPINI2

Locus Link:
5276

Chromosome:
3
Cytoband:
3q26.1-q26.2

Sum Func:
The protein encoded by this gene is a member of the serine protease inhibitor (serpin) superfamily made up of proteins which play central roles in the regulation of a wide variety of physiological processes, including coagulation, fibrinolysis, development, malignancy and inflammation. The gene product may have a role in a growth-control, possibly growth-suppressing pathway and, when impaired, may be involved in pancreatic carcinogenesis. The protein is a member of the plasminogen activator inhibitor-1 family, a subset of the serpin superfamily whose members act as tissue-specific tPA inhibitors. 		SP Function: Gene Ontology:

biological process:
cell motility

molecular function:
serine-type endopeptidase inhibitor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000901_01

Name:
Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B
UniGene:
Hs.82222

Gene Symbol:
SEMA3B

Locus Link:
7869

Chromosome:
3
Cytoband:
3p21.3

Sum Func:
The semaphorin/collapsin family of molecules plays a critical role in the guidance of growth cones during neuronal development. The secreted protein encoded by this gene family member is important in axonal guidance and has been shown to act as a tumor suppressor by inducing apoptosis. 		SP Function:
inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons (by similarity). 		Gene Ontology:

biological process:
axon guidance

biological process:
cell-cell signaling

biological process:
development

cellular component:
endoplasmic reticulum

cellular component:
membrane

molecular function:
receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H011466_01

Name:
TAO kinase 2
UniGene:
Hs.291623

Gene Symbol:
TAOK2

Locus Link:
9344

Chromosome:
16
Cytoband:
16p11.2

Sum Func: SP Function: Gene Ontology:

molecular function:
ATP binding

biological process:
actin cytoskeleton organization and biogenesis

biological process:
activation of MAPKK

biological process:
apoptosis

biological process:
cell migration

cellular component:
cytoplasmic vesicle

biological process:
focal adhesion formation

biological process:
positive regulation of JNK cascade

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
protein serine/threonine kinase activity

biological process:
protein-membrane targeting

molecular function:
protein-tyrosine kinase activity

biological process:
regulation of cell growth

biological process:
regulation of cell shape

biological process:
response to stress

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000967_01

Name:
Thrombospondin 4
UniGene:
Hs.211426

Gene Symbol:
THBS4

Locus Link:
7060

Chromosome:
5
Cytoband:
5q13

Sum Func:
The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. Studies of the rat counterpart suggest that this protein may be involved in local signaling in the developing and adult nervous system. 		SP Function:
adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. can bind to fibrinogen, fibronectin, laminin and type v collagen. 		Gene Ontology:

molecular function:
calcium ion binding

molecular function:
calcium ion binding

biological process:
cell adhesion

cellular component:
extracellular matrix (sensu Metazoa)

cellular component:
extracellular region

molecular function:
heparin binding

molecular function:
protein binding

molecular function:
structural molecule activity

biological process:
substrate-bound cell migration, cell extension

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H012622_01

Name:
Actin related protein 2/3 complex, subunit 1B, 41kDa
UniGene:
Hs.489284

Gene Symbol:
ARPC1B

Locus Link:
11333>10095; 11333

Chromosome:
7
Cytoband:
7q22.1

Sum Func:
This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. 		SP Function:
part of a complex implicated in the control of actin polymerization in cells. 		Gene Ontology:

cellular component:
Arp2/3 protein complex

biological process:
cell motility

molecular function:
structural constituent of cytoskeleton

 BioCarta Pathways:

 KEGG Pathways:
Unique id
: H013049_01

Name:
Dynein, axonemal, heavy polypeptide 3
UniGene:
Hs.526500

Gene Symbol:
DNAH3

Locus Link:
55567

Chromosome:
16
Cytoband:
16p12.3

Sum Func: SP Function: Gene Ontology:

cellular component:
axonemal dynein complex

biological process:
ciliary or flagellar motility

molecular function:
microtubule motor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H013061_01

Name:
Cerebral endothelial cell adhesion molecule 1
UniGene:
Hs.495230

Gene Symbol:
CEECAM1

Locus Link:
51148

Chromosome:
9
Cytoband:
9q34.11

Sum Func: SP Function: Gene Ontology:

biological process:
cell motility

cellular component:
integral to membrane

biological process:
leukocyte cell adhesion

biological process:
lipopolysaccharide biosynthesis

cellular component:
membrane fraction

cellular component:
plasma membrane

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H013086_01

Name:
Oligophrenin 1
UniGene:
Hs.128824

Gene Symbol:
OPHN1

Locus Link:
4983

Chromosome:
X
Cytoband:
Xq12

Sum Func:
Oligophrenin 1 has 25 exons and encodes a Rho-GTPase-activating protein. The Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for non-specific X-linked mental retardation. 		SP Function:
stimulates gtp hydrolysis of members of the rho family. could activates gtpase targets that are known to affect cell migration and outgrowth of axons and dendrites. 		Gene Ontology:

molecular function:
Rho GTPase activator activity

biological process:
axon guidance

biological process:
neurogenesis

biological process:
signal transduction

biological process:
substrate-bound cell migration, cell extension

 BioCarta Pathways:

1: Rho cell motility signaling pathway

 KEGG Pathways:
Unique id
: H013376_01

Name:
Capping protein (actin filament) muscle Z-line, alpha 2
UniGene:
Hs.446123

Gene Symbol:
CAPZA2

Locus Link:
830

Chromosome:
7
Cytoband:
7q31.2-q31.3

Sum Func:
The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. 		SP Function:
f-actin capping proteins bind in a ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. 		Gene Ontology:

cellular component:
F-actin capping protein complex

molecular function:
actin binding

biological process:
actin cytoskeleton organization and biogenesis

biological process:
cell motility

biological process:
protein complex assembly

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H013890_01

Name:
Slit homolog 2 (Drosophila)
UniGene:
Hs.29802

Gene Symbol:
SLIT2

Locus Link:
9353

Chromosome:
4
Cytoband:
4p15.2

Sum Func: SP Function: Gene Ontology:

molecular function:
calcium ion binding

biological process:
cell adhesion

biological process:
chemotaxis

cellular component:
extracellular space

biological process:
glia cell migration

biological process:
induction of negative chemotaxis

biological process:
induction of negative chemotaxis

biological process:
mesoderm migration

biological process:
motor axon guidance

biological process:
neurogenesis

biological process:
neuronal cell recognition

biological process:
perception of smell

biological process:
positive regulation of axonogenesis

molecular function:
protein binding

molecular function:
receptor binding

molecular function:
structural molecule activity

biological process:
ureteric bud development

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H013901_01

Name:
P21(CDKN1A)-activated kinase 4
UniGene:
Hs.20447

Gene Symbol:
PAK4

Locus Link:
10298

Chromosome:
19
Cytoband:
19q13.2

Sum Func:
PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. 		SP Function:
activates the jnk pathway. implicated in the reorganization of the actin cytoskeleton and in the formation of filopodia. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
Golgi apparatus

biological process:
cell motility

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

biological process:
signal transduction

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H015282_01

Name:
Dynein, axonemal, heavy polypeptide 9
UniGene:
Hs.526552

Gene Symbol:
DNAH9

Locus Link:
1770

Chromosome:
17
Cytoband:
17p12

Sum Func:
This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. 		SP Function: Gene Ontology:

molecular function:
ATP binding

cellular component:
axonemal dynein complex

biological process:
cell motility

cellular component:
cytoskeleton

cellular component:
dynein complex

molecular function:
microtubule motor activity

molecular function:
microtubule motor activity

biological process:
microtubule-based movement

molecular function:
nucleoside-triphosphatase activity

molecular function:
nucleotide binding

biological process:
spermatogenesis

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H015328_01

Name:
F11 receptor
UniGene:
Hs.517293

Gene Symbol:
F11R

Locus Link:
50848

Chromosome:
1
Cytoband:
1q21.2-q21.3

Sum Func:
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Five transcript variants encoding two different isoforms have been found for this gene. 		SP Function:
seems to plays a role in epithelial tight junction formation. appears early in primordial forms of cell junctions and recruits pard3. the association of the pard6-pard3 complex may prevent the interaction of pard3 with jam1, thereby preventing tight junction assembly (by similarity). plays a role in regulating monocyte transmigration involved in integrity of epithelial barrier. involved in platelet activation. 		Gene Ontology:

biological process:
cell motility

biological process:
inflammatory response

cellular component:
integral to membrane

cellular component:
tight junction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H015920_01

Name:
Thioredoxin
UniGene:
Hs.435136

Gene Symbol:
TXN

Locus Link:
7295

Chromosome:
9
Cytoband:
9q31

Sum Func: SP Function:
adf augments the expression of the interleukin-2 receptor tac (il2r/p55). 		Gene Ontology:

biological process:
cell motility

biological process:
cell proliferation

biological process:
cell-cell signaling

biological process:
electron transport

molecular function:
electron transporter activity

biological process:
signal transduction

molecular function:
thiol-disulfide exchange intermediate activity

 BioCarta Pathways:

1: Chaperones modulate interferon Signaling Pathway

 KEGG Pathways:
Unique id
: H016249_01

Name:
Laminin, alpha 4
UniGene:
Hs.520323

Gene Symbol:
LAMA4

Locus Link:
3910

Chromosome:
6
Cytoband:
6q21

Sum Func:
Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Also, alternative splicing involving the first intron in the 5' UTR, and laminin alpha 4 like isoforms have been noted, however, the full-length nature of these products is not known. 		SP Function:
binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. 		Gene Ontology:

molecular function:
extracellular matrix structural constituent

cellular component:
laminin-1

molecular function:
protein binding

molecular function:
receptor binding

biological process:
regulation of cell adhesion

biological process:
regulation of cell migration

biological process:
regulation of embryonic development

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H016544_01

Name:
Chemokine (C-X-C motif) ligand 16
UniGene:
Hs.82407

Gene Symbol:
CXCL16

Locus Link:
58191

Chromosome:
17
Cytoband:
17p13

Sum Func: SP Function:
acts as a scavenger receptor on macrophages, which specifically binds to oxldl (oxidized low density lipoprotein), suggesting that it may be involved in pathophysiology such as atherogenesis (by similarity). induces a strong chemotactic response. induces calcium mobilization. binds to cxcr6/bonzo. 		Gene Ontology:

molecular function:
chemokine activity

biological process:
chemotaxis

cellular component:
extracellular region

biological process:
immune response

cellular component:
integral to membrane

biological process:
lymphocyte chemotaxis

biological process:
receptor mediated endocytosis

molecular function:
scavenger receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H001239_01

Name:
Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F
UniGene:
Hs.25887

Gene Symbol:
SEMA4F

Locus Link:
10505

Chromosome:
2
Cytoband:
2p13.1

Sum Func: SP Function:
has growth cone collapse activity against retinal ganglion-cell axons (by similarity). 		Gene Ontology:

biological process:
axon guidance

biological process:
cell-cell signaling

biological process:
development

cellular component:
integral to plasma membrane

cellular component:
membrane fraction

biological process:
neurogenesis

molecular function:
receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H001342_01

Name:
Lymphocyte-specific protein 1
UniGene:
Hs.56729

Gene Symbol:
LSP1

Locus Link:
4046

Chromosome:
11
Cytoband:
11p15.5

Sum Func: SP Function:
not known. the authors believe that it may be involved in transmembrane signal transduction through a postulated calcium- binding function, but the evidence for the existence of a calcium- binding region is weak. 		Gene Ontology:

molecular function:
actin binding

cellular component:
actin cytoskeleton

biological process:
cell motility

biological process:
cellular defense response

molecular function:
signal transducer activity

biological process:
signal transduction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H001908_01

Name:
Discoidin domain receptor family, member 2
UniGene:
Hs.275757

Gene Symbol:
DDR2

Locus Link:
4921

Chromosome:
1
Cytoband:
1q12-q23

Sum Func:
Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation and metabolism. In several cases the biochemical mechanism by which RTKs transduce signals across the membrane has been shown to be ligand induced receptor oligomerization and subsequent intracellular phosphorylation. This autophosphorylation leads to phosphorylation of cytosolic targets as well as association with other molecules, which are involved in pleiotropic effects of signal transduction. RTK's have a tripartite structure with extracellular, transmembrane and cytoplasmic regions. There are several subclasses of RTKs and DDR2 belongs to a novel subclass. The deduced amino acid sequence has a unique extracellular region encompassing a factor VIII-like domain, not previously described for RTKs. 		SP Function:
this tyrosine kinase receptor for fibrillar collagen mediates fibroblast migration and proliferation. contributes to cutaneous wound healing (by similarity). 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell adhesion

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002029_01

Name:
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
UniGene:
Hs.306251

Gene Symbol:
ERBB3

Locus Link:
2065

Chromosome:
12
Cytoband:
12q13

Sum Func:
This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. 		SP Function:
binds and is activated by neuregulins and ntak. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
epidermal growth factor receptor activity

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002040_01

Name:
Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)
UniGene:
Hs.77432

Gene Symbol:
EGFR

Locus Link:
1956

Chromosome:
7;X
Cytoband:
7p12

Sum Func: SP Function:
isoform 2/truncated isoform may act as an antagonist. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell proliferation

cellular component:
cytoskeleton

cellular component:
endosome

molecular function:
epidermal growth factor receptor activity

biological process:
epidermal growth factor receptor signaling pathway

cellular component:
integral to plasma membrane

biological process:
negative regulation of cell cycle

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002106_01

Name:
EPH receptor B6
UniGene:
Hs.380089

Gene Symbol:
EPHB6

Locus Link:
2051

Chromosome:
7
Cytoband:
7q33-q35

Sum Func:
Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The ephrin receptor encoded by this gene lacks the kinase activity of most receptor tyrosine kinases and binds to ephrin-B ligands. 		SP Function:
kinase-defective receptor for members of the ephrin-b family. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
ephrin receptor activity

cellular component:
integral to membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002119_01

Name:
Fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
UniGene:
Hs.264887

Gene Symbol:
FGFR1

Locus Link:
2260

Chromosome:
8
Cytoband:
8p11.2-p11.1

Sum Func:
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene can lead to Pfeiffer syndrome and Jackson-Weiss syndrome. The genomic organization of this gene is very similar to family members 2-4, encompassing 19 exons that are subject to complex alternative splicing, which allows for structural, tissue expression and ligand affinity variations among the isoforms. 		SP Function:
receptor for basic fibroblast growth factor. a shorter form of the receptor could be a receptor for acidic fgf (afgf). 		Gene Ontology:

molecular function:
ATP binding

biological process:
MAPKKK cascade

molecular function:
fibroblast growth factor receptor activity

biological process:
fibroblast growth factor receptor signaling pathway

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
skeletal development

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002140_01

Name:
Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)
UniGene:
Hs.350321

Gene Symbol:
RET

Locus Link:
5979

Chromosome:
10;19
Cytoband:
10q11.2

Sum Func:
This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. 		SP Function:
probable receptor with tyrosine-protein kinase activity; important for development. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
ATP binding

molecular function:
cAMP-dependent protein kinase activity

cellular component:
cAMP-dependent protein kinase complex

molecular function:
cAMP-dependent protein kinase regulator activity

molecular function:
calcium ion binding

biological process:
cell growth and/or maintenance

biological process:
cell surface receptor linked signal transduction

biological process:
homophilic cell adhesion

cellular component:
integral to membrane

cellular component:
integral to membrane

cellular component:
membrane

biological process:
posterior midgut development

biological process:
protein amino acid phosphorylation

biological process:
protein amino acid phosphorylation

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
protein-tyrosine kinase activity

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
signal transduction

biological process:
signal transduction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002197_01

Name:
Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)
UniGene:
Hs.533683

Gene Symbol:
FGFR2

Locus Link:
2263

Chromosome:
10
Cytoband:
10q26

Sum Func:
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with many craniosynostotic syndromes and bone malformations. The genomic organization of this gene encompasses 20 exons. Alternative splicing in multiple exons, including those encoding the Ig-like domains, the transmembrane region and the carboxyl terminus, results in varied isoforms which differ in structure and specificity. 		SP Function:
receptor for acidic and basic fibroblast growth factors. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
fibroblast growth factor receptor activity

cellular component:
integral to membrane

biological process:
protein amino acid phosphorylation

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
protein-tyrosine kinase activity

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002448_01

Name:
Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)
UniGene:
Hs.1420

Gene Symbol:
FGFR3

Locus Link:
2261

Chromosome:
4
Cytoband:
4p16.3

Sum Func:
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Alternative splicing occurs and additional variants have been described, including those utilizing alternate exon 8 rather than 9, but their full-length nature has not been determined. 		SP Function:
receptor for acidic and basic fibroblast growth factors. preferentially binds fgf1. 		Gene Ontology:

molecular function:
ATP binding

biological process:
JAK-STAT cascade

biological process:
MAPKKK cascade

biological process:
cell growth

molecular function:
fibroblast growth factor receptor activity

biological process:
fibroblast growth factor receptor signaling pathway

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
skeletal development

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002462_01

Name:
Receptor tyrosine kinase-like orphan receptor 1
UniGene:
Hs.436456

Gene Symbol:
ROR1

Locus Link:
4919

Chromosome:
1
Cytoband:
1p32-p31

Sum Func:
The protein encoded by this gene is a receptor protein tyrosine kinase whose cellular role has not been determined. It is a type I membrane protein and belongs to the ROR subfamily of cell surface receptors. Studies of a similar protein in mouse suggest that this protein may interact with another receptor protein tyrosine kinase and may be involved in skeletal and cardiac development. 		SP Function:
tyrosine-protein kinase receptor whose role is not yet clear. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
cytoplasm

biological process:
development

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
transferase activity

molecular function:
transmembrane receptor activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002473_01

Name:
Insulin-like growth factor 1 receptor
UniGene:
Hs.20573

Gene Symbol:
IGF1R

Locus Link:
3480

Chromosome:
15
Cytoband:
15q26.3

Sum Func:
This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. 		SP Function:
this receptor binds insulin-like growth factor i (igf i) with a high affinity and igf ii with a lower affinity. it has a tyrosine-protein kinase activity. 		Gene Ontology:

molecular function:
ATP binding

biological process:
anti-apoptosis

molecular function:
epidermal growth factor receptor activity

biological process:
insulin receptor signaling pathway

molecular function:
insulin-like growth factor receptor activity

cellular component:
integral to membrane

biological process:
positive regulation of cell proliferation

biological process:
protein amino acid phosphorylation

molecular function:
protein binding

molecular function:
receptor activity

biological process:
regulation of cell cycle

biological process:
signal transduction

molecular function:
transferase activity

 BioCarta Pathways:

1: Regulation of BAD phosphorylation

2: Erk1/Erk2 Mapk Signaling pathway

3: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)

4: IGF-1 Signaling Pathway

5: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway

6: Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation

7: The IGF-1 Receptor and Longevity

8: Telomeres, Telomerase, Cellular Aging, and Immortality

 KEGG Pathways:
Unique id
: H002485_01

Name:
Fms-related tyrosine kinase 4
UniGene:
Hs.415048

Gene Symbol:
FLT4

Locus Link:
285682>2324; 285682

Chromosome:
5
Cytoband:
5q34-q35

Sum Func: SP Function:
receptor for vegfc. has a tyrosine-protein kinase activity. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

molecular function:
vascular endothelial growth factor receptor activity

molecular function:
vascular endothelial growth factor receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002568_01

Name:
EPH receptor A1
UniGene:
Hs.89839

Gene Symbol:
EPHA1

Locus Link:
2041

Chromosome:
7
Cytoband:
7q34

Sum Func:
This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. 		SP Function:
receptor for members of the ephrin-a family. binds with a low affinity to ephrin-a1. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
ephrin receptor activity

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002624_01

Name:
Insulin receptor
UniGene:
Hs.465744

Gene Symbol:
INSR

Locus Link:
3643

Chromosome:
19
Cytoband:
19p13.3-p13.2

Sum Func:
After removal of the precursor signal peptide, the insulin receptor precursor is post-translationally cleaved into two chains (alpha and beta) that are covalently linked. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. 		SP Function:
this receptor binds insulin and has a tyrosine-protein kinase activity. isoform short has a higher affinity for insulin. 		Gene Ontology:

molecular function:
ATP binding

biological process:
carbohydrate metabolism

biological process:
cell growth and/or maintenance

biological process:
development

biological process:
energy pathways

molecular function:
epidermal growth factor receptor activity

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
receptor signaling protein tyrosine kinase activity

biological process:
signal transduction

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

molecular function:
transmembrane receptor protein tyrosine kinase signaling protein activity

 BioCarta Pathways:

1: Growth Hormone Signaling Pathway

2: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)

3: Insulin Signaling Pathway

 KEGG Pathways:
Unique id
: H002712_01

Name:
Kinase insert domain receptor (a type III receptor tyrosine kinase)
UniGene:
Hs.479756

Gene Symbol:
KDR

Locus Link:
3791

Chromosome:
4
Cytoband:
4q11-q12

Sum Func: SP Function:
receptor for vegf or vegfc. has a tyrosine-protein kinase activity. the vegf-kinase ligand/receptor signaling system plays a key role in vascular development and regulation of vascular permeability. 		Gene Ontology:

molecular function:
ATP binding

biological process:
angiogenesis

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

molecular function:
vascular endothelial growth factor receptor activity

 BioCarta Pathways:

1: Actions of Nitric Oxide in the Heart

2: VEGF, Hypoxia, and Angiogenesis

 KEGG Pathways:
Unique id
: H002714_01

Name:
AXL receptor tyrosine kinase
UniGene:
Hs.466791

Gene Symbol:
AXL

Locus Link:
558

Chromosome:
19
Cytoband:
19q13.1

Sum Func:
The protein encoded by this gene is a member of the receptor tyrosine kinase subfamily. Although it is similar to other receptor tyrosine kinases, the Axl protein represents a unique structure of the extracellular region that juxtaposes IgL and FNIII repeats. It transduce signals from the extracellular matrix into the cytoplasm by binding growth factors like vitamin K-dependent protein growth-arrest-specific gene 6. It is involved in the stimulation of cell proliferation. This receptor can also mediate cell aggregation by homophilic binding. Axl is a chronic myelogenous leukemia-associated oncogene and also associated with colon cancer and melanoma. It is in close vicinity to the bcl3 oncogene which is at 19q13.1-q13.2. The Axl gene is evolutionarily conserved between vertebrate species. This gene has two different alternatively spliced transcript variants. 		SP Function:
may function as a signal transducer between specific cell types of mesodermal origin. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell growth and/or maintenance

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
regulation of cell cycle

biological process:
signal transduction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002756_01

Name:
Fibroblast growth factor receptor 4
UniGene:
Hs.165950

Gene Symbol:
FGFR4

Locus Link:
2264

Chromosome:
5
Cytoband:
5q35.1-qter

Sum Func:
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. The genomic organization of this gene, compared to members 1-3, encompasses 18 exons rather than 19 or 20. Although alternative splicing has been observed, there is no evidence that the C-terminal half of the IgIII domain of this protein varies between three alternate forms, as indicated for members 1-3. This particular family member preferentially binds acidic fibroblast growth factor and, although its specific function is unknown, it is overexpressed in gynecological tumor samples, suggesting a role in breast and ovarian tumorigenesis. 		SP Function:
receptor for acidic fibroblast growth factor. does not bind to basic fibroblast growth factor. binds fgf19. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
fibroblast growth factor receptor activity

biological process:
fibroblast growth factor receptor signaling pathway

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000323_01

Name:
Ret finger protein
UniGene:
Hs.440382

Gene Symbol:
RFP

Locus Link:
5987

Chromosome:
6
Cytoband:
6p22

Sum Func:
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nuclear matrix. It interacts with the enhancer of polycomb protein and represses gene transcription. It is also thought to be involved in the differentiation of male germ cells. Rearrangements of this gene and the RET gene result in a gene encoding the ret transforming protein. Two alternatively spliced transcript variants for this gene have been described. 		SP Function:
has a transcriptional repressor activity by cooperating with epc1. induces apoptosis by activating jun n-terminal kinase and p38 kinase and also increases caspase-3-like activity independently of mitochondrial events. may function in male germ cell development. has dna-binding activity and preferentially bound to double-stranded dna (by similarity). 		Gene Ontology:

molecular function:
DNA binding

biological process:
cell proliferation

cellular component:
integral to plasma membrane

cellular component:
membrane fraction

molecular function:
metal ion binding

cellular component:
nucleus

biological process:
protein ubiquitination

biological process:
regulation of transcription, DNA-dependent

biological process:
spermatogenesis

biological process:
transcription

molecular function:
transmembrane receptor protein tyrosine kinase activity

cellular component:
ubiquitin ligase complex

molecular function:
ubiquitin-protein ligase activity

molecular function:
zinc ion binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002775_01

Name:
Platelet-derived growth factor receptor, alpha polypeptide
UniGene:
Hs.74615

Gene Symbol:
PDGFRA

Locus Link:
5156

Chromosome:
4
Cytoband:
4q11-q13

Sum Func:
This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies in knockout mice, where homozygosity is lethal, indicate that the alpha form of the platelet-derived growth factor receptor is particularly important for kidney development since mice heterozygous for the receptor exhibit defective kidney phenotypes. 		SP Function:
receptor that binds both pdgfa and pdgfb and has a tyrosine-protein kinase activity. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell proliferation

biological process:
cell surface receptor linked signal transduction

cellular component:
integral to plasma membrane

molecular function:
platelet-derived growth factor alpha-receptor activity

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

molecular function:
vascular endothelial growth factor receptor activity

 BioCarta Pathways:

1: CBL mediated ligand-induced downregulation of EGF receptors

2: Role of PI3K subunit p85 in regulation of Actin Organization and Cell Migration

3: Phospholipids as signaling intermediaries

4: Erk1/Erk2 Mapk Signaling pathway

5: PDGF Signaling Pathway

6: Rac 1 cell motility signaling pathway

 KEGG Pathways:
Unique id
: H002846_01

Name:
EPH receptor B3
UniGene:
Hs.2913

Gene Symbol:
EPHB3

Locus Link:
2049

Chromosome:
3
Cytoband:
3q21-qter

Sum Func:
Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. 		SP Function:
receptor for members of the ephrin-b family. binds to ephrin-b1 and -b2. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
ephrin receptor activity

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002936_01

Name:
Macrophage stimulating 1 receptor (c-met-related tyrosine kinase)
UniGene:
Hs.517973

Gene Symbol:
MST1R

Locus Link:
4486

Chromosome:
3
Cytoband:
3p21.3

Sum Func: SP Function:
receptor for macrophage stimulating protein (msp). has a tyrosine-protein kinase activity. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell motility

biological process:
defense response

biological process:
fertilization (sensu Metazoa)

cellular component:
integral to plasma membrane

molecular function:
macrophage colony stimulating factor receptor activity

biological process:
positive regulation of cell proliferation

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

 BioCarta Pathways:

1: Msp/Ron Receptor Signaling Pathway

 KEGG Pathways:
Unique id
: H002955_01

Name:
Discoidin domain receptor family, member 1
UniGene:
Hs.520004

Gene Symbol:
DDR1

Locus Link:
780

Chromosome:
6
Cytoband:
6p21.3

Sum Func:
Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene is a RTK that is widely expressed in normal and transformed epithelial cells and is activated by various types of collagen. This protein belongs to a subfamily of tyrosine kinase receptors with a homology region to the Dictyostelium discoideum protein discoidin I in their extracellular domain. Its autophosphorylation is achieved by all collagens so far tested (type I to type VI). In situ studies and Northern-blot analysis showed that expression of this encoded protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, this protein is significantly over-expressed in several human tumors from breast, ovarian, esophageal, and pediatric brain. This gene is located on chromosome 6p21.3 in proximity to several HLA class I genes. Three isoforms of this gene are generated by alternative splicing. [PROW] 		SP Function:
may be involved in cell-cell interactions and recognition. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell adhesion

biological process:
cell adhesion

cellular component:
integral to plasma membrane

cellular component:
membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
receptor activity

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003016_01

Name:
Insulin-like growth factor 2 receptor
UniGene:
Hs.487062

Gene Symbol:
IGF2R

Locus Link:
3482

Chromosome:
6
Cytoband:
6q26

Sum Func:
CD222 is a 250kDa transmembrane protein with a short cytoplasmic tail containing an internalization signal. CD222 was originally identified as a receptor for IGFII and M6P-containing proteins (e.g. lysosomal hydrolases). Lysosomal enzymes are sorted to lysosomes via CD222 either from the Golgi, where the enzymes acquire M6P, or from the extracellular space. The majority of CD222 molecules (approximately 90-95%) are located intracellularly, only 5-10% is present on the cell membrane. The internalization rate seems to be enhanced by ligand induced dimerization of CD222 as well as by phosphorylation of its cytoplasmic serine. CD222 is also a receptor for TGFbeta latency associated peptide (LAP), proliferin and may bind several molecules independently of M6P, including plasminogen, CD87 or retinoic acid. It is involved in activation of latent TGFbeta [PROW] 		SP Function:
transport of phosphorylated lysosomal enzymes from the golgi complex and the cell surface to lysosomes. lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6- phosphate receptors in the golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low ph mediates the dissociation of the complex. this receptor also binds insulin growth factor ii. 		Gene Ontology:

molecular function:
insulin-like growth factor receptor activity

cellular component:
integral to plasma membrane

cellular component:
lysosome

molecular function:
receptor activity

biological process:
receptor mediated endocytosis

biological process:
signal transduction

biological process:
transport

molecular function:
transporter activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003096_01

Name:
EPH receptor B4
UniGene:
Hs.437008

Gene Symbol:
EPHB4

Locus Link:
2050

Chromosome:
7;16
Cytoband:
7q22

Sum Func:
Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. 		SP Function:
receptor for members of the ephrin-b family. binds to ephrin-b2. may have a role in events mediating differentiation and development. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell proliferation

molecular function:
ephrin receptor activity

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

biological process:
organogenesis

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003160_01

Name:
RYK receptor-like tyrosine kinase
UniGene:
Hs.245869

Gene Symbol:
RYK

Locus Link:
6259

Chromosome:
3
Cytoband:
3q22

Sum Func:
The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. Two alternative splice variants have been identified, encoding distinct isoforms. 		SP Function:
potential growth factor receptor protein tyrosine kinase. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003228_01

Name:
Colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog
UniGene:
Hs.174142

Gene Symbol:
CSF1R

Locus Link:
1436

Chromosome:
5;22
Cytoband:
5q33-q35

Sum Func:
The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. 		SP Function:
this protein is the receptor for csf-1, it is a protein tyrosine-kinase transmembrane receptor. 		Gene Ontology:

molecular function:
ATP binding

biological process:
antimicrobial humoral response (sensu Vertebrata)

biological process:
cell proliferation

biological process:
development

cellular component:
integral to plasma membrane

molecular function:
macrophage colony stimulating factor receptor activity

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003267_01

Name:
Tyrosine kinase with immunoglobulin and epidermal growth factor homology domains
UniGene:
Hs.78824

Gene Symbol:
TIE

Locus Link:
7075

Chromosome:
1
Cytoband:
1p34-p33

Sum Func: SP Function:
probable protein tyrosine-kinase transmembrane receptor. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to plasma membrane

biological process:
mesoderm development

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003542_01

Name:
V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
UniGene:
Hs.446352

Gene Symbol:
ERBB2

Locus Link:
2064

Chromosome:
17;5;11
Cytoband:
17q11.2-q12

Sum Func:
This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signaling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. 		SP Function:
essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. gp30 is a potential ligand for this receptor. not activated by egf, tgf- alpha and amphiregulin. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
ErbB-3 class receptor binding

biological process:
cell proliferation

molecular function:
epidermal growth factor receptor activity

cellular component:
extracellular region

cellular component:
integral to membrane

cellular component:
membrane

molecular function:
non-membrane spanning protein tyrosine kinase activity

biological process:
protein amino acid phosphorylation

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
receptor signaling protein tyrosine kinase activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:

1: Role of ERBB2 in Signal Transduction and Oncology

2: Trefoil Factors Initiate Mucosal Healing

 KEGG Pathways:
Unique id
: H003588_01

Name:
Neurotrophic tyrosine kinase, receptor, type 3
UniGene:
Hs.26776

Gene Symbol:
NTRK3

Locus Link:
4916

Chromosome:
15
Cytoband:
15q25

Sum Func:
This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signaling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. 		SP Function:
receptor for neurotrophin-3 (nt-3). this is a tyrosine- protein kinase receptor. known substrates for the trk receptors are shc1, pi-3 kinase, and plcg1. the different isoforms do not have identical signaling properties. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to plasma membrane

molecular function:
kinase activity

biological process:
neurogenesis

molecular function:
neurotrophin binding

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003651_01

Name:
EPH receptor B2
UniGene:
Hs.523329

Gene Symbol:
EPHB2

Locus Link:
2048

Chromosome:
1
Cytoband:
1p36.1-p35

Sum Func:
Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. 		SP Function:
receptor for members of the ephrin-b family. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to membrane

biological process:
neurogenesis

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

molecular function:
transmembrane-ephrin receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003752_01

Name:
Platelet-derived growth factor receptor, beta polypeptide
UniGene:
Hs.509067

Gene Symbol:
PDGFRB

Locus Link:
5159

Chromosome:
5
Cytoband:
5q31-q32

Sum Func:
This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETS, leukemia gene, results in chronic myelomonocytic leukemia. 		SP Function:
receptor that binds specifically to pdgfb and has a tyrosine-protein kinase activity. phosphorylates tyr residues at the c-terminus of ptpn11 creating a binding site for the sh2 domain of grb2. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell growth and/or maintenance

cellular component:
integral to membrane

molecular function:
platelet activating factor receptor activity

molecular function:
platelet-derived growth factor receptor activity

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

molecular function:
vascular endothelial growth factor receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003804_01

Name:
PTK7 protein tyrosine kinase 7
UniGene:
Hs.90572

Gene Symbol:
PTK7

Locus Link:
5754

Chromosome:
6;17
Cytoband:
6p21.1-p12.2

Sum Func:
Receptor protein tyrosine kinases transduce extracellular signals across the cell membrane. A subgroup of these kinases lack detectable catalytic tyrosine kinase activity but retain roles in signal transduction. The protein encoded by this gene is a member of this subgroup of tyrosine kinases and may function as a cell adhesion molecule. This gene is thought to be expressed in colon carcinomas but not in normal colon, and therefore may be a marker for or may be involved in tumor progression. Five transcript variants encoding five different isoforms have been found for this gene. 		SP Function:
may function as a cell adhesion molecule. lacks probably the catalytic activity of tyrosine kinase. may be connected to the pathophysiology of colon carcinomas and/or may represent a tumor progression marker. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell adhesion

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein binding

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
signal transduction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003808_01

Name:
V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
UniGene:
Hs.479754

Gene Symbol:
KIT

Locus Link:
3815

Chromosome:
4
Cytoband:
4q11-q12

Sum Func:
KIT encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. KIT is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in KIT are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. 		SP Function:
this is the receptor for stem cell factor (mast cell growth factor). it has a tyrosine-protein kinase activity. binding of the ligands leads to the autophosphorylation of kit and its association with substrates such as phosphatidylinositol 3-kinase (pi3k). 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell growth and/or maintenance

cellular component:
integral to membrane

biological process:
protein amino acid dephosphorylation

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
receptor signaling protein tyrosine kinase activity

biological process:
signal transduction

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

molecular function:
vascular endothelial growth factor receptor activity

 BioCarta Pathways:

1: Regulation of BAD phosphorylation

2: Melanocyte Development and Pigmentation Pathway

 KEGG Pathways:
Unique id
: H000425_01

Name:
C-mer proto-oncogene tyrosine kinase
UniGene:
Hs.306178

Gene Symbol:
MERTK

Locus Link:
10461

Chromosome:
2
Cytoband:
2q14.1

Sum Func: SP Function: Gene Ontology:

molecular function:
ATP binding

biological process:
cell growth and/or maintenance

biological process:
cell surface receptor linked signal transduction

biological process:
cell-cell signaling

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

cellular component:
soluble fraction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

biological process:
visual perception

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000683_01

Name:
Fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
UniGene:
Hs.264887

Gene Symbol:
FGFR1

Locus Link:
2260

Chromosome:
8
Cytoband:
8p11.2-p11.1

Sum Func:
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene can lead to Pfeiffer syndrome and Jackson-Weiss syndrome. The genomic organization of this gene is very similar to family members 2-4, encompassing 19 exons that are subject to complex alternative splicing, which allows for structural, tissue expression and ligand affinity variations among the isoforms. 		SP Function:
receptor for basic fibroblast growth factor. a shorter form of the receptor could be a receptor for acidic fgf (afgf). 		Gene Ontology:

molecular function:
ATP binding

biological process:
MAPKKK cascade

molecular function:
fibroblast growth factor receptor activity

biological process:
fibroblast growth factor receptor signaling pathway

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
skeletal development

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H008853_01

Name:
Fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
UniGene:
Hs.264887

Gene Symbol:
FGFR1

Locus Link:
2260

Chromosome:
8
Cytoband:
8p11.2-p11.1

Sum Func:
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene can lead to Pfeiffer syndrome and Jackson-Weiss syndrome. The genomic organization of this gene is very similar to family members 2-4, encompassing 19 exons that are subject to complex alternative splicing, which allows for structural, tissue expression and ligand affinity variations among the isoforms. 		SP Function:
receptor for basic fibroblast growth factor. a shorter form of the receptor could be a receptor for acidic fgf (afgf). 		Gene Ontology:

molecular function:
ATP binding

biological process:
MAPKKK cascade

molecular function:
fibroblast growth factor receptor activity

biological process:
fibroblast growth factor receptor signaling pathway

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein-tyrosine kinase activity

molecular function:
receptor activity

biological process:
skeletal development

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000990_01

Name:
Insulin receptor-related receptor
UniGene:
Hs.248138

Gene Symbol:
INSRR

Locus Link:
3645

Chromosome:
1
Cytoband:
1q21-q23

Sum Func: SP Function:
this receptor probably binds an insulin related protein and has a tyrosine-protein kinase activity. it phosphorylates the insulin receptor substrates irs-1 and irs-2. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
epidermal growth factor receptor activity

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H013267_01

Name:
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
UniGene:
Hs.306251

Gene Symbol:
ERBB3

Locus Link:
2065

Chromosome:
12
Cytoband:
12q13

Sum Func:
This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. 		SP Function:
binds and is activated by neuregulins and ntak. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
epidermal growth factor receptor activity

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H001127_01

Name:
Leukocyte tyrosine kinase
UniGene:
Hs.434481

Gene Symbol:
LTK

Locus Link:
4058

Chromosome:
15
Cytoband:
15q15.1-q21.1

Sum Func:
The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. 		SP Function:
the exact function of this protein is not known. it is probably a receptor with a tyrosine-protein kinase activity. 		Gene Ontology:

molecular function:
ATP binding

cellular component:
integral to plasma membrane

cellular component:
membrane

biological process:
protein amino acid phosphorylation

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
receptor activity

biological process:
signal transduction

cellular component:
soluble fraction

molecular function:
transferase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H001355_01

Name:
Receptor tyrosine kinase-like orphan receptor 2
UniGene:
Hs.98255

Gene Symbol:
ROR2

Locus Link:
4920

Chromosome:
9
Cytoband:
9q22

Sum Func:
The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. 		SP Function:
tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. it seems to be required for cartilage and growth plate development. 		Gene Ontology:

molecular function:
ATP binding

biological process:
development

cellular component:
integral to plasma membrane

biological process:
protein amino acid phosphorylation

biological process:
signal transduction

molecular function:
transferase activity

molecular function:
transmembrane receptor activity

molecular function:
transmembrane receptor protein tyrosine kinase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H001450_01

Name:
Alpha 1,4-galactosyltransferase
UniGene:
Hs.105956

Gene Symbol:
A4GALT

Locus Link:
53947

Chromosome:
22
Cytoband:
22q11.2-q13.2

Sum Func:
The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. The encoded protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. 		SP Function: Gene Ontology:

cellular component:
Golgi stack

molecular function:
galactosyltransferase activity

biological process:
glycosphingolipid biosynthesis

cellular component:
integral to Golgi membrane

molecular function:
lactosylceramide 4-alpha-galactosyltransferase activity

biological process:
lipid biosynthesis

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Globoside Metabolism
Unique id
: H001585_01

Name:
Mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
UniGene:
Hs.519818

Gene Symbol:
MGAT1

Locus Link:
4245

Chromosome:
5
Cytoband:
5q35

Sum Func:
There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I is a medial-Golgi enzyme essential for the synthesis of hybrid and complex N-glycans. The protein, encoded by a single exon, shows typical features of a type II transmembrane protein. The protein is believed to be essential for normal embryogenesis. 		SP Function:
initiates complex n-linked carbohydrate formation. essential for the conversion of high-mannose to hybrid and complex n-glycans. 		Gene Ontology:

cellular component:
Golgi membrane

biological process:
N-linked glycosylation

molecular function:
alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity

biological process:
aminoglycan biosynthesis

biological process:
carbohydrate metabolism

cellular component:
integral to membrane

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Glycoprotein Biosynthesis
Unique id
: H001712_01

Name:
Dolichyl – diphosphooligosaccharide – protein glycosyltransferase
UniGene:
Hs.523145

Gene Symbol:
DDOST

Locus Link:
1650

Chromosome:
1
Cytoband:
1p36.1

Sum Func: SP Function:
essential subunit of n-oligosaccharyl transferase enzyme which catalyzes the transfer of a high mannose oligosaccharide to an asparagine residue within an asn-x-ser/thr consensus motif in nascent polypeptide chains. 		Gene Ontology:

biological process:
N-linked glycosylation via asparagine

molecular function:
dolichyl – diphosphooligosaccharide – protein glycotransferase activity

cellular component:
endoplasmic reticulum membrane

cellular component:
integral to membrane

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:

1: Glycoprotein Biosynthesis
Unique id
: H001884_01

Name:
UDP glycosyltransferase 1 family, polypeptide A9
UniGene:
Hs.124112

Gene Symbol:
UGT1A6

Locus Link:
54575; 54600; 414061; 54576>54578; 54575; 54600; 414061; 54576

Chromosome:
2
Cytoband:
2q37

Sum Func:
This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5' end of this gene results in two transcript variants. 		SP Function:
udpgt is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. this isoform has specificity for phenols. 		Gene Ontology:

molecular function:
glucuronosyltransferase activity

cellular component:
integral to membrane

biological process:
metabolism

cellular component:
microsome

molecular function:
transferase activity, transferring hexosyl groups

biological process:
xenobiotic metabolism

 BioCarta Pathways:

1: Oxidative Stress Induced Gene Expression Via Nrf2

 KEGG Pathways:

1: Pentose and Glucuronate Interconversions

2: Androgen and Estrogen Metabolism

3: Starch and Sucrose Metabolism

4: Porphyrin and Chlorophyll Metabolism
Unique id
: H001885_01

Name:
UDP glycosyltransferase 1 family, polypeptide A9
UniGene:
Hs.124112

Gene Symbol:
UGT1A6

Locus Link:
54575; 54600; 414061; 54576>54578; 54575; 54600; 414061; 54576

Chromosome:
2
Cytoband:
2q37

Sum Func:
This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5' end of this gene results in two transcript variants. 		SP Function:
udpgt is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. this isoform has specificity for phenols. 		Gene Ontology:

molecular function:
glucuronosyltransferase activity

cellular component:
integral to membrane

biological process:
metabolism

cellular component:
microsome

molecular function:
transferase activity, transferring hexosyl groups

biological process:
xenobiotic metabolism

 BioCarta Pathways:

1: Oxidative Stress Induced Gene Expression Via Nrf2

 KEGG Pathways:

1: Pentose and Glucuronate Interconversions

2: Androgen and Estrogen Metabolism

3: Starch and Sucrose Metabolism

4: Porphyrin and Chlorophyll Metabolism
Unique id
: H002272_01

Name:
Sialyltransferase 4A (beta-galactoside alpha-2,3-sialyltransferase)
UniGene:
Hs.374257

Gene Symbol:
SIAT4A

Locus Link:
286167>6482; 286167

Chromosome:
8
Cytoband:
8q24.22

Sum Func:
The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. 		SP Function:
it may be responsible for the synthesis of the sequence neuac-alpha-2,3-gal-beta-1,3-galnac- found on sugar chains o- linked to thr or ser and also as a terminal sequence on certain gangliosides. siat4-a and siat4-b sialylate the same acceptor substrates but exhibit different km values. 		Gene Ontology:

cellular component:
Golgi apparatus

molecular function:
beta-galactoside alpha-2,3-sialyltransferase activity

cellular component:
integral to membrane

biological process:
protein amino acid glycosylation

 BioCarta Pathways:
 KEGG Pathways:

1: O-Glycans Biosynthesis

2: Globoside Metabolism

3: Ganglioside Biosynthesis
Unique id
: H002413_01

Name:
ADP-ribosyltransferase 1
UniGene:
Hs.382188

Gene Symbol:
ART1

Locus Link:
417

Chromosome:
11
Cytoband:
11p15

Sum Func:
ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2 		SP Function: Gene Ontology:

molecular function:
NAD(P)+-protein-arginine ADP-ribosyltransferase activity

molecular function:
NAD+ ADP-ribosyltransferase activity

cellular component:
integral to plasma membrane

biological process:
protein amino acid ADP-ribosylation

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002618_01

Name:
UDP glycosyltransferase 2 family, polypeptide B4
UniGene:
Hs.285887

Gene Symbol:
UGT2B4

Locus Link:
7363

Chromosome:
4
Cytoband:
4q13

Sum Func: SP Function:
udpgts are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. this isozyme is active on polyhydroxylated estrogens (such as estriol, 4-hydroxyestrone and 2-hydroxyestriol) and xenobiotics (such as 4-methylumbelliferone, 1-naphthol, 4- nitrophenol, 2-aminophenol, 4-hydroxybiphenyl and menthol). it is capable of 6 alpha-hydroxyglucuronidation of hyodeoxycholic acid. 		Gene Ontology:

biological process:
estrogen catabolism

molecular function:
glucuronosyltransferase activity

cellular component:
integral to membrane

cellular component:
microsome

biological process:
xenobiotic metabolism

 BioCarta Pathways:
 KEGG Pathways:

1: Pentose and Glucuronate Interconversions

2: Androgen and Estrogen Metabolism

3: Starch and Sucrose Metabolism

4: Porphyrin and Chlorophyll Metabolism
Unique id
: H002721_01

Name:
Sialyltransferase 1 (beta-galactoside alpha-2,6-sialyltransferase)
UniGene:
Hs.207459

Gene Symbol:
SIAT1

Locus Link:
6480

Chromosome:
3
Cytoband:
3q27-q28

Sum Func:
The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein, which is normally found in the Golgi but which can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CDw75, and CD76. This protein is a member of glycosyltransferase family 29. Three transcript variants encoding two different isoforms have been found for this gene. 		SP Function:
transfers sialic acid from the donor of substrate cmp- sialic acid to galactose containing acceptor substrates. 		Gene Ontology:

cellular component:
Golgi apparatus

molecular function:
beta-galactoside alpha-2,6-sialyltransferase activity

biological process:
growth

biological process:
humoral immune response

cellular component:
integral to membrane

biological process:
oligosaccharide metabolism

biological process:
protein amino acid glycosylation

 BioCarta Pathways:
 KEGG Pathways:

1: Glycoprotein Biosynthesis

2: Keratan Sulfate Biosynthesis
Unique id
: H002984_01

Name:
Poly (ADP-ribose) polymerase family, member 1
UniGene:
Hs.177766

Gene Symbol:
PARP1

Locus Link:
142

Chromosome:
1;19;10
Cytoband:
1q41-q42

Sum Func:
This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. 		SP Function: Gene Ontology:

molecular function:
DNA binding

molecular function:
DNA binding

biological process:
DNA repair

molecular function:
NAD+ ADP-ribosyltransferase activity

biological process:
cell growth and/or maintenance

cellular component:
nucleus

cellular component:
nucleus

biological process:
protein amino acid ADP-ribosylation

biological process:
transcription from Pol II promoter

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:

1: HIV-I Nef: negative effector of Fas and TNF

2: Opposing roles of AIF in Apoptosis and Cell Survival

3: Caspase Cascade in Apoptosis

4: Apoptotic Signaling in Response to DNA Damage

5: D4-GDI Signaling Pathway

6: FAS signaling pathway ( CD95 )

7: TNFR1 Signaling Pathway

 KEGG Pathways:
Unique id
: H003208_01

Name:
Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
UniGene:
Hs.93338

Gene Symbol:
MGAT2

Locus Link:
4247

Chromosome:
14
Cytoband:
14q21

Sum Func:
UDP-N-acetylglucosamine:alpha-6-D-mannoside-beta-1,2-N-acetylglucosaminyltransferase II is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in MGAT2 may lead to carbohydrate-deficient glycoprotein syndrome, type II. 		SP Function:
catalyzes an essential step in the conversion of oligo- mannose to complex n-glycans. 		Gene Ontology:

cellular component:
Golgi stack

biological process:
N-linked glycosylation

molecular function:
alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity

cellular component:
integral to membrane

cellular component:
membrane fraction

biological process:
methane metabolism

molecular function:
methane monooxygenase activity

biological process:
oligosaccharide biosynthesis

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Glycoprotein Biosynthesis
Unique id
: H003507_01

Name:
Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)
UniGene:
Hs.412707

Gene Symbol:
HPRT1

Locus Link:
3251

Chromosome:
X
Cytoband:
Xq26.1

Sum Func: SP Function: Gene Ontology:

biological process:
behavior

cellular component:
cytoplasm

molecular function:
hypoxanthine phosphoribosyltransferase activity

molecular function:
magnesium ion binding

biological process:
nucleoside metabolism

biological process:
purine ribonucleoside salvage

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Purine Metabolism
Unique id
: H003968_01

Name:
Phosphorylase, glycogen; brain
UniGene:
Hs.368157

Gene Symbol:
PYGB

Locus Link:
5834

Chromosome:
20
Cytoband:
20p11.2-p11.1

Sum Func:
The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. 		SP Function:
phosphorylase is an important allosteric enzyme in carbohydrate metabolism. enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. however, all known phosphorylases share catalytic and structural properties. 		Gene Ontology:

biological process:
carbohydrate metabolism

biological process:
glycogen catabolism

molecular function:
phosphorylase activity

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Starch and Sucrose Metabolism
Unique id
: H004232_01

Name:
UDP glycosyltransferase 2 family, polypeptide A1
UniGene:
Hs.225950

Gene Symbol:
UGT2A1

Locus Link:
10941

Chromosome:
4
Cytoband:
4q13

Sum Func:
The olfactory neuroepithelium, which lines the posterior nasal cavity, is exposed to a wide range of odorants and airborne toxic compounds. Odorants, which are mostly small lipophilic molecules, enter the mucus flow and reach the odorant receptors on sensory neurons. Odorant sensing is generally a transient process, requiring an effective signal termination, which could be provided by biotransformation of the odorant in the epithelial supporting cells. Xenobiotic-metabolizing enzymes in the olfactory epithelium have been suggested to catalyze inactivation and facilitate elimination of odorants.[supplied by OMIM] 		SP Function: Gene Ontology:

biological process:
detection of chemical substance

molecular function:
glucuronosyltransferase activity

cellular component:
integral to membrane

biological process:
metabolism

cellular component:
microsome

biological process:
perception of smell

 BioCarta Pathways:
 KEGG Pathways:

1: Pentose and Glucuronate Interconversions

2: Androgen and Estrogen Metabolism

3: Starch and Sucrose Metabolism

4: Porphyrin and Chlorophyll Metabolism
Unique id
: H004466_01

Name:
UDP-Gal:beta GlcNAc beta 1,4- galactosyltransferase, polypeptide 4
UniGene:
Hs.13225

Gene Symbol:
B4GALT4

Locus Link:
8702

Chromosome:
3
Cytoband:
3q13.3

Sum Func:
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. 		SP Function:
responsible for the synthesis of complex-type n-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. 		Gene Ontology:

cellular component:
Golgi apparatus

molecular function:
N-acetyllactosamine synthase activity

biological process:
carbohydrate metabolism

molecular function:
galactosyltransferase activity

cellular component:
integral to membrane

biological process:
membrane lipid metabolism

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000473_01

Name:
Uridine phosphorylase 1
UniGene:
Hs.488240

Gene Symbol:
UPP1

Locus Link:
7378

Chromosome:
7
Cytoband:
7p12.3

Sum Func: SP Function: Gene Ontology:

cellular component:
cytoplasm

biological process:
nucleoside metabolism

biological process:
nucleotide catabolism

molecular function:
transferase activity, transferring glycosyl groups

molecular function:
uridine phosphorylase activity

 BioCarta Pathways:
 KEGG Pathways:

1: Pyrimidine Metabolism
Unique id
: H005654_01

Name:
Asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)
UniGene:
Hs.503368

Gene Symbol:
ALG8

Locus Link:
79053

Chromosome:
11
Cytoband:
11pter-p15.5

Sum Func:
The product of this gene belongs to the ALG6/ALG8 glucosyltransferase family. This enzyme adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Defects in this gene are the cause of congenital disorder of glycosylation, type Ih (CDG Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. 		SP Function: Gene Ontology:

biological process:
N-linked glycosylation

cellular component:
endoplasmic reticulum

cellular component:
integral to membrane

molecular function:
transferase activity, transferring glycosyl groups

biological process:
transport

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H005756_01

Name:
Beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
UniGene:
Hs.502759

Gene Symbol:
B3GAT3

Locus Link:
26229

Chromosome:
11
Cytoband:
11q12.3

Sum Func:
The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. 		SP Function:
glycosaminoglycans biosynthesis. involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (udp-glcua) to the common linkage region trisaccharide gal beta 1-3gal beta 1-4xyl covalently bound to a ser residue at the glycosaminoglycan attachment site of proteoglycans. can also play a role in the biosynthesis of l2/hnk- 1 carbohydrate epitope on glycoproteins. shows strict specificity for gal beta1-3gal beta1-4xyl, exhibiting negligible incorporation into other galactoside substrates including galbeta1-3gal beta1-o- benzyl, galbeta1-4glcnac and galbeta1-4glc. 		Gene Ontology:

cellular component:
Golgi membrane

molecular function:
galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity

biological process:
glycosaminoglycan biosynthesis

cellular component:
integral to membrane

molecular function:
manganese ion binding

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:

1: Chondroitin / Heparan Sulfate Biosynthesis
Unique id
: H005783_01

Name:
Integral membrane protein 1
UniGene:
Hs.504237

Gene Symbol:
ITM1

Locus Link:
3703

Chromosome:
11
Cytoband:
11q23.3

Sum Func: SP Function:
involved in protein glycosylation. either required for the assembly of the oligosaccharyl transferase (otase) complex or required in substoichiometric amounts for otase activity (by similarity). 		Gene Ontology:

cellular component:
integral to plasma membrane

cellular component:
membrane

cellular component:
membrane fraction

molecular function:
oligosaccharyl transferase activity

biological process:
protein amino acid glycosylation

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006143_01

Name:
UDP-Gal:beta GlcNAc beta 1,3-galactosyltransferase, polypeptide 4
UniGene:
Hs.534375

Gene Symbol:
B3GALT4

Locus Link:
8705

Chromosome:
6
Cytoband:
6p21.3

Sum Func:
This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglio-series glycolipid biosynthesis. 		SP Function:
involved in gm1/gd1b/ga1 ganglioside biosynthesis. 		Gene Ontology:

cellular component:
Golgi apparatus

molecular function:
UDP-galactose beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity

molecular function:
galactosyltransferase activity

molecular function:
ganglioside galactosyltransferase activity

cellular component:
integral to membrane

biological process:
protein amino acid glycosylation

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Ganglioside Biosynthesis
Unique id
: H006144_01

Name:
UDP-Gal:beta GlcNAc beta 1,4- galactosyltransferase, polypeptide 3
UniGene:
Hs.321231

Gene Symbol:
B4GALT3

Locus Link:
8703

Chromosome:
1;22;11
Cytoband:
1q21-q23

Sum Func:
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. 		SP Function:
responsible for the synthesis of complex-type n-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. 		Gene Ontology:

cellular component:
Golgi apparatus

molecular function:
N-acetyllactosamine synthase activity

molecular function:
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity

biological process:
carbohydrate metabolism

molecular function:
galactosyltransferase activity

cellular component:
integral to membrane

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Glycoprotein Biosynthesis

2: Keratan Sulfate Biosynthesis
Unique id
: H006305_01

Name:
O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)
UniGene:
Hs.405410

Gene Symbol:
OGT

Locus Link:
8473

Chromosome:
X
Cytoband:
Xq13

Sum Func:
O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT) catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains nine tetratricopeptide repeats and a putative bipartite nuclear localization signal. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. 		SP Function:
addition of nucleotide-activated sugars directly onto the polypeptide through O-glycosidic linkage with the hydroxyl of serine or threonine. 		Gene Ontology:

biological process:
O-linked glycosylation

molecular function:
acetylglucosaminyltransferase activity

cellular component:
cytosol

cellular component:
nucleus

molecular function:
protein binding

biological process:
response to nutrients

biological process:
signal transduction

molecular function:
transferase activity

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006323_01

Name:
Sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F
UniGene:
Hs.109672

Gene Symbol:
SIAT7F

Locus Link:
30815

Chromosome:
9
Cytoband:
9q34.11

Sum Func: SP Function: Gene Ontology:

cellular component:
Golgi apparatus

biological process:
carbohydrate metabolism

biological process:
glycosphingolipid biosynthesis

cellular component:
integral to membrane

cellular component:
plasma membrane

biological process:
protein amino acid glycosylation

molecular function:
sialyltransferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006324_01

Name:
Tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
UniGene:
Hs.370267

Gene Symbol:
TNKS

Locus Link:
8658

Chromosome:
8
Cytoband:
8p23.1

Sum Func: SP Function:
may regulate vesicle trafficking and modulate the subcellular distribution of slc2a4/glut4-vesicles. has parp activity and can modify terf1, and thereby contribute to the regulation of telomere length. 		Gene Ontology:

cellular component:
Golgi apparatus

molecular function:
NAD+ ADP-ribosyltransferase activity

cellular component:
chromosome, telomeric region

cellular component:
nucleus

molecular function:
protein binding

biological process:
telomerase-dependent telomere maintenance

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:

1: Telomeres, Telomerase, Cellular Aging, and Immortality

 KEGG Pathways:
Unique id
: H006408_01

Name:
Sialyltransferase 10 (alpha-2,3-sialyltransferase VI)
UniGene:
Hs.148716

Gene Symbol:
SIAT10

Locus Link:
10402

Chromosome:
3
Cytoband:
3q12.1

Sum Func:
Sialyltransferases catalyze the transfer of sialic acid from cytidine 5-prime monophospho-N-acetylneuraminic acid (CMP-NeuAc) to terminal positions of glycoprotein and glycolipid carbohydrate groups. Terminal NeuAc residues are key determinants of carbohydrate structures, such as the sialyl-Lewis X determinants, and are widely distributed in many cell types.[supplied by OMIM] 		SP Function: Gene Ontology:

cellular component:
Golgi apparatus

biological process:
amino sugar metabolism

biological process:
glycolipid metabolism

cellular component:
integral to membrane

biological process:
protein amino acid glycosylation

biological process:
protein-lipoylation

molecular function:
sialyltransferase activity

 BioCarta Pathways:
 KEGG Pathways:

1: Blood Group Glycolipid Biosynthesis – Neolact Series
Unique id
: H006531_01

Name:
Sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A
UniGene:
Hs.105352

Gene Symbol:
SIAT7A

Locus Link:
55808

Chromosome:
17
Cytoband:
17q25.1

Sum Func: SP Function: Gene Ontology:

cellular component:
Golgi apparatus

cellular component:
Golgi membrane

molecular function:
alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity

cellular component:
integral to membrane

cellular component:
membrane

biological process:
protein amino acid glycosylation

biological process:
protein amino acid glycosylation

molecular function:
sialyltransferase activity

 BioCarta Pathways:
 KEGG Pathways:

1: O-Glycans Biosynthesis
Unique id
: H006728_01

Name:
Poly (ADP-ribose) polymerase family, member 3
UniGene:
Hs.271742

Gene Symbol:
PARP3

Locus Link:
10039

Chromosome:
3;21
Cytoband:
3p21.31-p21.1

Sum Func:
The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. 		SP Function: Gene Ontology:

biological process:
DNA repair

molecular function:
NAD+ ADP-ribosyltransferase activity

cellular component:
nucleus

biological process:
protein amino acid ADP-ribosylation

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006817_01

Name:
Radical fringe homolog (Drosophila)
UniGene:
Hs.12862

Gene Symbol:
RFNG

Locus Link:
5986

Chromosome:
17
Cytoband:
17q25

Sum Func: SP Function:
glycosyltransferase that initiates the elongation of o- linked fucose residues attached to egf-like repeats in the extracellular domain of notch molecules. may be involved in limb formation and in neurogenesis (by similarity). 		Gene Ontology:

cellular component:
Golgi apparatus

biological process:
development

cellular component:
extracellular region

cellular component:
integral to membrane

cellular component:
membrane

biological process:
neurogenesis

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H007019_01

Name:
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)
UniGene:
Hs.300834

Gene Symbol:
GALNT2

Locus Link:
2590

Chromosome:
1
Cytoband:
1q41-q42

Sum Func:
This gene encodes polypeptide N-acetylgalactosaminyltransferase 2, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation in a cell is regulated by a repertoire of GalNAc-transferases. 		SP Function: Gene Ontology:

cellular component:
Golgi apparatus

biological process:
O-linked glycosylation

cellular component:
integral to membrane

molecular function:
manganese ion binding

molecular function:
polypeptide N-acetylgalactosaminyltransferase activity

molecular function:
sugar binding

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: O-Glycans Biosynthesis
Unique id
: H000616_01

Name:
Nucleoside phosphorylase
UniGene:
Hs.75514

Gene Symbol:
NP

Locus Link:
4860

Chromosome:
14
Cytoband:
14q13.1

Sum Func:
NP encodes the enzyme purine nucleoside phosphorylase that together with adenosine deaminase (ADA) serves a key role in purine catabolism, referred to as the salvage pathway. Mutations in either enzyme result in a severe combined immunodeficiency (SCID). 		SP Function: Gene Ontology:

biological process:
DNA modification

biological process:
nucleobase, nucleoside, nucleotide and nucleic acid metabolism

molecular function:
purine-nucleoside phosphorylase activity

 BioCarta Pathways:
 KEGG Pathways:

1: Purine Metabolism

2: Pyrimidine Metabolism

3: Nicotinate and Nicotinamide Metabolism
Unique id
: H007305_01

Name:
Exostoses (multiple)-like 3
UniGene:
Hs.491354

Gene Symbol:
EXTL3

Locus Link:
2137

Chromosome:
8
Cytoband:
8p21

Sum Func: SP Function:
probable glycosyltransferase (by similarity). 		Gene Ontology:

biological process:
cell growth and/or maintenance

cellular component:
endoplasmic reticulum

molecular function:
glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity

cellular component:
integral to membrane

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Chondroitin / Heparan Sulfate Biosynthesis
Unique id
: H000658_01

Name:
Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase)
UniGene:
Hs.2057

Gene Symbol:
UMPS

Locus Link:
7372

Chromosome:
3
Cytoband:
3q13

Sum Func: SP Function: Gene Ontology:

biological process:
'de novo' pyrimidine base biosynthesis

biological process:
UMP biosynthesis

molecular function:
lyase activity

biological process:
nucleoside metabolism

molecular function:
orotate phosphoribosyltransferase activity

molecular function:
orotidine-5'-phosphate decarboxylase activity

biological process:
pyrimidine nucleotide biosynthesis

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Pyrimidine Metabolism
Unique id
: H007925_01

Name:
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)
UniGene:
Hs.511985

Gene Symbol:
GALNT8

Locus Link:
26290

Chromosome:
12
Cytoband:
12p13.3

Sum Func:
This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. 		SP Function: Gene Ontology:

molecular function:
3'-5'-exoribonuclease activity

cellular component:
Golgi apparatus

molecular function:
RNA binding

biological process:
RNA processing

cellular component:
integral to plasma membrane

molecular function:
manganese ion binding

cellular component:
membrane fraction

molecular function:
polypeptide N-acetylgalactosaminyltransferase activity

molecular function:
sugar binding

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: O-Glycans Biosynthesis
Unique id
: H008077_01

Name:
Stromal cell-derived factor 2
UniGene:
Hs.514036

Gene Symbol:
SDF2

Locus Link:
6388

Chromosome:
17
Cytoband:
17q11.2

Sum Func:
The protein encoded by this gene is believed to be a secretory protein. It has regions of similarity to hydrophilic segments of yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. 		SP Function: Gene Ontology:

molecular function:
dolichyl-phosphate-mannose-protein mannosyltransferase activity

cellular component:
extracellular space

cellular component:
membrane

biological process:
protein amino acid glycosylation

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H008398_01

Name:
Protein O-fucosyltransferase 1
UniGene:
Hs.472409

Gene Symbol:
POFUT1

Locus Link:
23509

Chromosome:
20
Cytoband:
20q11

Sum Func:
This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 		SP Function:
catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in egf domains. 		Gene Ontology:

biological process:
Notch signaling pathway

biological process:
O-glycan processing

cellular component:
cytoplasm

biological process:
embryonic development

biological process:
fucose metabolism

cellular component:
integral to Golgi membrane

molecular function:
manganese ion binding

molecular function:
peptide-O-fucosyltransferase activity

biological process:
regulation of transcription

biological process:
regulation of translation

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000076_01

Name:
UDP-glucose ceramide glucosyltransferase
UniGene:
Hs.304249

Gene Symbol:
UGCG

Locus Link:
7357

Chromosome:
9
Cytoband:
9q31

Sum Func:
Glycosphingolipids (GSLs) are a group of membrane components that contain lipid and sugar moieties. They are present in essentially all animal cells and are believed to have important roles in various cellular processes. UDP-glucose ceramide glucosyltransferase catalyzes the first glycosylation step in glycosphingolipid biosynthesis. The product, glucosylceramide, is the core structure of more than 300 GSLs. UGCG is widely expressed and transcription is upregulated during keratinocyte differentiation. 		SP Function:
may serve as a "flippase" as well as a glucosyltransferase that transfers glucose to ceramide. 		Gene Ontology:

molecular function:
ceramide glucosyltransferase activity

cellular component:
endoplasmic reticulum

biological process:
epidermis development

cellular component:
extracellular space

biological process:
glucosylceramide biosynthesis

biological process:
glycosphingolipid biosynthesis

cellular component:
integral to membrane

cellular component:
membrane fraction

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Sphingoglycolipid Metabolism
Unique id
: H000788_01

Name:
Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)
UniGene:
Hs.436062

Gene Symbol:
GBE1

Locus Link:
2632

Chromosome:
3
Cytoband:
3p12.3

Sum Func:
This monomeric enzyme functions in glycogen synthesis by catalyzing the formation of alpha 1,6- glucosidic linkages. It is most highly expressed in liver and muscle. Deficiency can result in glycogen storage disease IV (Andersen's disease). 		SP Function:
required for sufficient glycogen accumulation. the alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells. 		Gene Ontology:

molecular function:
1,4-alpha-glucan branching enzyme activity

molecular function:
alpha-amylase activity

biological process:
carbohydrate metabolism

biological process:
energy pathways

biological process:
glycogen biosynthesis

molecular function:
hydrolase activity, hydrolyzing O-glycosyl compounds

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Starch and Sucrose Metabolism
Unique id
: H009595_01

Name:
Protein-O-mannosyltransferase 1
UniGene:
Hs.522449

Gene Symbol:
POMT1

Locus Link:
10585

Chromosome:
9
Cytoband:
9q34.1

Sum Func:
POMT1 shares sequence similarity with a family of protein O-mannosyltransferases of S. cerevisiae. In yeast, these enzymes are located in the endoplasmic reticulum (ER) and are required for cell integrity and cell wall rigidity. POMT1 also shows similarity to the Drosophila 'rotated abdomen' (rt) gene, which when mutated causes defects in myogenesis and muscle structure.[supplied by OMIM] 		SP Function: Gene Ontology:

biological process:
O-linked glycosylation

molecular function:
dolichyl-phosphate-mannose-protein mannosyltransferase activity

cellular component:
endoplasmic reticulum

cellular component:
integral to membrane

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H009912_01

Name:
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)
UniGene:

Hs.127407

Gene Symbol:
GALNT7

Locus Link:
51809

Chromosome:
4
Cytoband:
4q31.1

Sum Func:
This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. 		SP Function: Gene Ontology:

cellular component:
Golgi apparatus

cellular component:
integral to membrane

molecular function:
manganese ion binding

molecular function:
sugar binding

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: O-Glycans Biosynthesis
Unique id
: H010132_01

Name:
Asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)
UniGene:
Hs.406461

Gene Symbol:
ALG1

Locus Link:
196483>56052; 196483

Chromosome:
16;4;1;9;2;3;11
Cytoband:
16p13.3

Sum Func:
The biosynthesis of lipid-linked oligosaccharides is highly conserved among eukaryotes and is catalyzed by 14 glycosyltransferases in an ordered stepwise manner. Mannosyltransferase I (MT I) catalyzes the first mannosylation step in this process.[supplied by OMIM] 		SP Function: Gene Ontology:

biological process:
biosynthesis

cellular component:
endoplasmic reticulum

biological process:
lipopolysaccharide biosynthesis

molecular function:
mannosyltransferase activity

biological process:
protein amino acid glycosylation

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Glycoprotein Biosynthesis
Unique id
: H010408_01

Name:
Phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)
UniGene:
Hs.137154

Gene Symbol:
PIGA

Locus Link:
5277

Chromosome:
X
Cytoband:
Xp22.1

Sum Func:
This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Three mRNA species have been described that result from alternative splicing of exon 2. 		SP Function:
necessary for the synthesis of n-acetylglucosaminyl- phosphatidylinositol, the very early intermediate in gpi-anchor biosynthesis. 		Gene Ontology:

biological process:
biosynthesis

cellular component:
endoplasmic reticulum membrane

cellular component:
integral to membrane

molecular function:
phosphatidylinositol N-acetylglucosaminyltransferase activity

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Glycosylphosphatidylinositol(GPI)-anchor Biosynthesis
Unique id
: H000864_01

Name:
Glycogenin 2
UniGene:
Hs.186799

Gene Symbol:
GYG2

Locus Link:
8908

Chromosome:
X
Cytoband:
Xp22.3

Sum Func: SP Function:
self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase. 		Gene Ontology:

biological process:
carbohydrate biosynthesis

biological process:
glycogen biosynthesis

molecular function:
glycogenin glucosyltransferase activity

cellular component:
soluble fraction

molecular function:
transferase activity

molecular function:
transferase activity, transferring hexosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000888_01

Name:
Glycogenin
UniGene:
Hs.477892

Gene Symbol:
GYG

Locus Link:
2992

Chromosome:
3
Cytoband:
3q24-q25.1

Sum Func: SP Function:
self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase. 		Gene Ontology:

biological process:
carbohydrate biosynthesis

biological process:
glycogen biosynthesis

molecular function:
glycogenin glucosyltransferase activity

molecular function:
transferase activity

molecular function:
transferase activity, transferring hexosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H011206_01

Name:
Protein O-fucosyltransferase 2
UniGene:
Hs.517345

Gene Symbol:
POFUT2

Locus Link:
23275

Chromosome:
21
Cytoband:
21q22.3

Sum Func: SP Function: Gene Ontology:

biological process:
fucose metabolism

molecular function:
peptide-O-fucosyltransferase activity

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H011209_01

Name:
Sialyltransferase 8E (alpha-2, 8-polysialyltransferase)
UniGene:
Hs.465025

Gene Symbol:
SIAT8E

Locus Link:
29906

Chromosome:
18
Cytoband:
18q21.1

Sum Func:
The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. 		SP Function:
may be involved in the synthesis of gangliosides gd1c, gt1a, gq1b and gt3 from gd1a, gt1b, gm1b and gd3 respectively. 		Gene Ontology:

cellular component:
Golgi apparatus

biological process:
carbohydrate metabolism

biological process:
glycosphingolipid biosynthesis

cellular component:
integral to membrane

biological process:
protein amino acid glycosylation

molecular function:
sialyltransferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000899_01

Name:
UDP glycosyltransferase 2 family, polypeptide B7
UniGene:
Hs.10319

Gene Symbol:
UGT2B7

Locus Link:
7364

Chromosome:
4
Cytoband:
4q13

Sum Func:
The UGTs (EC 2.4.1.17) serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. UGT2B7 has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Its subcellular location is the microsome.[supplied by OMIM] 		SP Function:
its unique specificity for 3,4-catechol estrogens and estriol suggests it may play an important role in regulating the level and activity of these potent and active estrogen metabolites. 		Gene Ontology:

molecular function:
glucuronosyltransferase activity

cellular component:
integral to membrane

biological process:
lipid metabolism

cellular component:
membrane fraction

cellular component:
microsome

 BioCarta Pathways:
 KEGG Pathways:

1: Pentose and Glucuronate Interconversions

2: Androgen and Estrogen Metabolism

3: Starch and Sucrose Metabolism

4: Porphyrin and Chlorophyll Metabolism
Unique id
: H011620_01

Name:
Sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) B
UniGene:
Hs.288215

Gene Symbol:
SIAT7B

Locus Link:
10610

Chromosome:
17
Cytoband:
17q25.1

Sum Func: SP Function: Gene Ontology:

cellular component:
Golgi apparatus

cellular component:
integral to membrane

biological process:
protein amino acid glycosylation

molecular function:
sialyltransferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000924_01

Name:
UDP glycosyltransferase 2 family, polypeptide B17
UniGene:
Hs.183596

Gene Symbol:
UGT2B17

Locus Link:
7367

Chromosome:
4
Cytoband:
4q13

Sum Func:
UGT2B17 belongs to the family of UDP-glucuronosyltransferases (UGTs; EC 2.4.1.17), enzymes that catalyze the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a variety of substrates, including steroid hormones.[supplied by OMIM] 		SP Function:
udpgt is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. the major substrates of this isozyme are eugenol > 4-methylumbelliferone > dihydrotestosterone (dht) > androstane-3alpha,17beta-diol (3alpha-diol) > testosterone > androsterone (adt). 		Gene Ontology:

molecular function:
glucuronosyltransferase activity

cellular component:
integral to membrane

cellular component:
membrane fraction

biological process:
metabolism

cellular component:
microsome

biological process:
steroid metabolism

 BioCarta Pathways:
 KEGG Pathways:

1: Pentose and Glucuronate Interconversions

2: Androgen and Estrogen Metabolism

3: Starch and Sucrose Metabolism

4: Porphyrin and Chlorophyll Metabolism
Unique id
: H011716_01

Name:
Phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI)
UniGene:
Hs.282417

Gene Symbol:
PYGL

Locus Link:
5836

Chromosome:
14
Cytoband:
14q21-q22

Sum Func: SP Function:
phosphorylase is an important allosteric enzyme in carbohydrate metabolism. enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. however, all known phosphorylases share catalytic and structural properties. 		Gene Ontology:

biological process:
carbohydrate metabolism

biological process:
glycogen metabolism

molecular function:
glycogen phosphorylase activity

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Starch and Sucrose Metabolism
Unique id
: H012221_01

Name:
Like-glycosyltransferase
UniGene:
Hs.474667

Gene Symbol:
LARGE

Locus Link:
9215

Chromosome:
22
Cytoband:
22q12.3

Sum Func:
This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. The function of this gene has not yet been established; however, it may involve a role in tumor-specific genomic rearrangements. Mutations in this gene may be involved in the development and progression of meningioma through modification of ganglioside composition and other glycosylated molecules in tumor cells. Alternative splicing of this gene results in two transcript variants. 		SP Function:
may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. may be involved in the addition of a repeated disaccharide unit. 		Gene Ontology:

cellular component:
Golgi apparatus

biological process:
carbohydrate biosynthesis

biological process:
glycoprotein biosynthesis

biological process:
glycosphingolipid biosynthesis

cellular component:
integral to Golgi membrane

biological process:
muscle maintenance

biological process:
myelination

biological process:
perception of sound

biological process:
synaptic transmission

molecular function:
transferase activity, transferring hexosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H012284_01

Name:
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7
UniGene:
Hs.299329

Gene Symbol:
B3GNT7

Locus Link:
93010

Chromosome:
2
Cytoband:
2q37.1

Sum Func: SP Function: Gene Ontology:

molecular function:
galactosyltransferase activity

cellular component:
membrane

biological process:
protein amino acid glycosylation

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000975_01

Name:
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)
UniGene:
Hs.514806

Gene Symbol:
GALNT1

Locus Link:
2589

Chromosome:
18
Cytoband:
18q12.1

Sum Func:
This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. 		SP Function:
catalyzes the initial reaction in o-linked oligosaccharide biosynthesis, the transfer of an n-acetyl-d- galactosamine residue to a serine or threonine residue on the protein receptor. has a broad spectrum of substrates for peptides such as ea2, muc5ac, muc1a, muc1b and muc7. 		Gene Ontology:

cellular component:
Golgi apparatus

biological process:
O-linked glycosylation

cellular component:
integral to membrane

molecular function:
manganese ion binding

molecular function:
polypeptide N-acetylgalactosaminyltransferase activity

molecular function:
sugar binding

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: O-Glycans Biosynthesis
Unique id
: H000994_01

Name:
Fucosyltransferase 6 (alpha (1,3) fucosyltransferase)
UniGene:
Hs.32956

Gene Symbol:
FUT6

Locus Link:
2528

Chromosome:
19
Cytoband:
19p13.3

Sum Func:
The alpha-1,3-fucosyltransferases constitute a large family of glycosyltransferases with a high degree of homology. The enzymes of this family comprise 3 main activity patterns called myeloid, plasma, and Lewis, based on their capacity to transfer alpha-L-fucose to distinct oligosaccharide acceptors, their sensitivity to N-ethylmaleimide inhibition, their cation requirements, and their tissue-specific expression patterns. The different categories of alpha-1,3-fucosyltransferases are sequentially expressed during embryo-fetal development.[supplied by OMIM] 		SP Function:
enzyme involved in the biosynthesis of the e-selectin ligand, sialyl-lewis x. catalyzes the transfer of fucose from gdp- beta-fucose to alpha-2,3 sialylated substrates. 		Gene Ontology:

molecular function:
3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity

cellular component:
Golgi apparatus

biological process:
L-fucose catabolism

molecular function:
alpha(1,3)-fucosyltransferase activity

cellular component:
extracellular region

cellular component:
integral to membrane

biological process:
protein amino acid glycosylation

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Blood Group Glycolipid Biosynthesis – Lact Series
Unique id
: H012864_01

Name:
Mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B
UniGene:
Hs.437277

Gene Symbol:
MGAT4B

Locus Link:
11282

Chromosome:
5;19;10
Cytoband:
5q35

Sum Func:
Branching structures in complex N-glycans are synthesized on a common core structure of Man3GlcNAc2Asn in the Golgi apparatus by the N-acetylglucosaminyltransferases. The mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferases, which include isoenzyme A (MGAT4A) and isoenzyme B (MGAT4B), are key N-acetylglucosaminyltransferases regulating formation of tri- and other multiantennary structures. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 		SP Function: Gene Ontology:

biological process:
N-glycan processing

molecular function:
alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity

biological process:
carbohydrate metabolism

cellular component:
membrane

molecular function:
transferase activity, transferring hexosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Glycoprotein Biosynthesis
Unique id
: H013456_01

Name:
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)
UniGene:
Hs.34421

Gene Symbol:
GALNT10

Locus Link:
56756; 386627>55568; 56756; 386627

Chromosome:
5
Cytoband:
5q33.2

Sum Func:
This gene belongs to the polypeptide N-acetylgalactosaminyltransferase (pp-GalNAc-T) gene family. Polypeptide GalNAc transferases initiate the synthesis of mucin-type oligosaccharides by transferring GalNAc from UDP-GalNAc to the hydroxyl group of either a serine or threonine residue on the polypeptide acceptor. Following expression in insect cells, recombinant GalNAc transferase 10 showed significant GalNAcT activity toward mucin-derived peptides, and it utilized both nonglycosylated and glycosylated peptide substrates. Two transcript variants encoding distinct isoforms have been identified for this gene. 		SP Function: Gene Ontology:

cellular component:
Golgi apparatus

cellular component:
integral to membrane

molecular function:
manganese ion binding

molecular function:
polypeptide N-acetylgalactosaminyltransferase activity

molecular function:
sugar binding

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H001021_01

Name:
Ribophorin I
UniGene:
Hs.518244

Gene Symbol:
RPN1

Locus Link:
285226>6184; 285226

Chromosome:
3
Cytoband:
3q21.3-q25.2

Sum Func:
Ribophorins I and II (MIM 180490) represent proteins that appear to be involved in ribosome binding. They are abundant, highly conserved glycoproteins located exclusively in the membranes of the rough endoplasmic reticulum.[supplied by OMIM] 		SP Function:
essential subunit of n-oligosaccharyl transferase enzyme which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an asn-x-ser/thr consensus motif in nascent polypeptide chains. 		Gene Ontology:

molecular function:
RNA binding

molecular function:
dolichyl – diphosphooligosaccharide – protein glycotransferase activity

cellular component:
endoplasmic reticulum lumen

cellular component:
integral to membrane

cellular component:
oligosaccharyl transferase complex

biological process:
protein amino acid glycosylation

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:

1: Glycoprotein Biosynthesis
Unique id
: H013749_01

Name:
Exostoses (multiple) 1
UniGene:
Hs.492618

Gene Symbol:
EXT1

Locus Link:
2131

Chromosome:
8
Cytoband:
8q24.11-q24.13

Sum Func:
This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. 		SP Function:
glycosyltransferase required for the biosynthesis of heparan-sulfate. the ext1/ext2 complex possesses substantially higher glycosyltransferase activity than ext1 or ext2 alone. appears to be a tumor suppressor. 		Gene Ontology:

cellular component:
Golgi apparatus

molecular function:
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity

biological process:
cell growth and/or maintenance

cellular component:
endoplasmic reticulum membrane

biological process:
glycosaminoglycan biosynthesis

cellular component:
integral to membrane

biological process:
negative regulation of cell cycle

biological process:
signal transduction

biological process:
skeletal development

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Chondroitin / Heparan Sulfate Biosynthesis
Unique id
: H001043_01

Name:
Glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)
UniGene:
Hs.521568

Gene Symbol:
GCNT1

Locus Link:
2650

Chromosome:
9
Cytoband:
9q13

Sum Func:
This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13 by another group. 		SP Function:
forms critical branches in o-glycans. 		Gene Ontology:

cellular component:
Golgi apparatus

biological process:
O-linked glycosylation

molecular function:
beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity

cellular component:
integral to membrane

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: O-Glycans Biosynthesis
Unique id
: H014033_01

Name:
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
UniGene:
Hs.108973

Gene Symbol:
DPM2

Locus Link:
8818

Chromosome:
9
Cytoband:
9q34.13

Sum Func:
Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. Two alternatively spliced transcript variants have been found for this gene. 		SP Function:
regulates the biosynthesis of dolichol phosphate- mannose. essential for the er localization and stable expression of dpm1. 		Gene Ontology:

cellular component:
integral to endoplasmic reticulum membrane

biological process:
macromolecule biosynthesis

biological process:
protein amino acid glycosylation

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H001074_01

Name:
Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme
UniGene:
Hs.519884

Gene Symbol:
GCNT2

Locus Link:
2651

Chromosome:
6
Cytoband:
6p24

Sum Func:
The enzyme encoded by this gene is responsible for the formation of the blood group I antigen. The i and I antigens are determined by linear and branched poly-N-acetyllactosaminoglycans, respectively. During embryonic development in human erythrocytes, the fetal i antigen is replaced by the adult I antigen as the result of the appearance of a beta-1,6-N-acetylglucosaminyltransferase, the I-branching enzyme. This gene encodes the I-branching enzyme that converts the linear form into the branched form. Defects in this gene have been associated with adult i blood group phenotype. Several transcript variants encoding different isoforms have been described. 		SP Function:
branching enzyme that converts linear into branched poly-n-acetyllactosaminoglycans. introduces the blood group i antigen during embryonic development. it is closely associated with the development and maturation of erythroid cells. 		Gene Ontology:

cellular component:
Golgi apparatus

molecular function:
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity

biological process:
O-linked glycosylation

molecular function:
acetylglucosaminyltransferase activity

biological process:
development

biological process:
glycosaminoglycan biosynthesis

cellular component:
integral to membrane

cellular component:
membrane

cellular component:
membrane fraction

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Blood Group Glycolipid Biosynthesis – Neolact Series
Unique id
: H001084_01

Name:
Pre-B-cell colony enhancing factor 1
UniGene:
Hs.489615

Gene Symbol:
PBEF1

Locus Link:
10135

Chromosome:
7
Cytoband:
7q22.3

Sum Func: SP Function: Gene Ontology:

biological process:
cell-cell signaling

molecular function:
cytokine activity

molecular function:
nicotinate phosphoribosyltransferase activity

biological process:
positive regulation of cell proliferation

biological process:
pyridine nucleotide biosynthesis

biological process:
signal transduction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H014535_01

Name:
Chondroitin sulfate GalNAcT-2
UniGene:
Hs.180758

Gene Symbol:
GALNACT-2

Locus Link:
55454

Chromosome:
10
Cytoband:
10q11.21

Sum Func: SP Function: Gene Ontology:

molecular function:
acetylgalactosaminyltransferase activity

biological process:
chondroitin sulfate proteoglycan biosynthesis, polysaccharide chain biosynthesis

biological process:
dermatan sulfate proteoglycan biosynthesis, polysaccharide chain biosynthesis

cellular component:
integral to Golgi membrane

molecular function:
protein binding

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H014958_01

Name:
Tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2
UniGene:
Hs.329327

Gene Symbol:
TNKS2

Locus Link:
80351

Chromosome:
10
Cytoband:
10q23.3

Sum Func: SP Function:
may regulate vesicle trafficking and modulate the subcellular distribution of slc2a4/glut4-vesicles. has parp activity and can modify trf1, and thereby contribute to the regulation of telomere length. 		Gene Ontology:

cellular component:
Golgi apparatus

molecular function:
NAD+ ADP-ribosyltransferase activity

cellular component:
chromosome, telomeric region

cellular component:
nucleus

biological process:
telomerase-dependent telomere maintenance

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H015216_01

Name:
Fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)
UniGene:
Hs.69747

Gene Symbol:
FUT1

Locus Link:
2523

Chromosome:
19
Cytoband:
19q13.3

Sum Func: SP Function:
creates a soluble precursor oligosaccharide fuc-alpha ((1,2)galbeta-) called the h antigen which is an essential substrate for the final step in the soluble a and b antigen synthesis pathway. h and se enzymes fucosylate the same acceptor substrates but exhibit different km values. 		Gene Ontology:

cellular component:
Golgi apparatus

biological process:
L-fucose catabolism

biological process:
carbohydrate metabolism

molecular function:
galactoside 2-alpha-L-fucosyltransferase activity

cellular component:
integral to plasma membrane

cellular component:
membrane fraction

biological process:
protein amino acid glycosylation

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Blood Group Glycolipid Biosynthesis – Lact Series

2: Blood Group Glycolipid Biosynthesis – Neolact Series

3: Globoside Metabolism
Unique id
: H001158_01

Name:
UDP-Gal:beta GlcNAc beta 1,4- galactosyltransferase, polypeptide 1
UniGene:
Hs.272011

Gene Symbol:
B4GALT1

Locus Link:
2683

Chromosome:
9
Cytoband:
9p13

Sum Func:
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. 		SP Function:
the cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix. 		Gene Ontology:

cellular component:
Golgi apparatus

molecular function:
N-acetyllactosamine synthase activity

molecular function:
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity

biological process:
carbohydrate metabolism

molecular function:
galactosyltransferase activity

cellular component:
integral to membrane

biological process:
oligosaccharide biosynthesis

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Galactose Metabolism

2: Glycoprotein Biosynthesis

3: Keratan Sulfate Biosynthesis
Unique id
: H015632_01

Name:
SMP3 mannosyltransferase
UniGene:
Hs.518403

Gene Symbol:
SMP3

Locus Link:
80235

Chromosome:
3
Cytoband:
3q29

Sum Func:
The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein thought to be involved in GPI anchor biosynthesis. The yeast homolog is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases that is required for the addition of the side-branching fourth mannose during the assembly of GPI anchors. 		SP Function: Gene Ontology:

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H016054_01

Name:
Xylosyltransferase II
UniGene:
Hs.463416

Gene Symbol:
XYLT2

Locus Link:
64132

Chromosome:
17
Cytoband:
17q21.3-17q22

Sum Func:
The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. 		SP Function: Gene Ontology:

molecular function:
acetylglucosaminyltransferase activity

biological process:
glycosaminoglycan biosynthesis

cellular component:
membrane

molecular function:
protein xylosyltransferase activity

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:

1: Chondroitin / Heparan Sulfate Biosynthesis
Unique id
: H016058_01

Name:
UDP-Gal:beta GlcNAc beta 1,4- galactosyltransferase, polypeptide 3
UniGene:
Hs.321231

Gene Symbol:
B4GALT3

Locus Link:
8703

Chromosome:
1;22;11
Cytoband:
1q21-q23

Sum Func:
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. 		SP Function:
responsible for the synthesis of complex-type n-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. 		Gene Ontology:

cellular component:
Golgi apparatus

molecular function:
N-acetyllactosamine synthase activity

molecular function:
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity

biological process:
carbohydrate metabolism

molecular function:
galactosyltransferase activity

cellular component:
integral to membrane

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Glycoprotein Biosynthesis

2: Keratan Sulfate Biosynthesis
Unique id
: H000137_01

Name:
Poly (ADP-ribose) polymerase family, member 2
UniGene:
Hs.409412

Gene Symbol:
PARP2

Locus Link:
85495>10038; 85495

Chromosome:
14
Cytoband:
14q11.2-q12

Sum Func:
This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Transcript variants of this gene have been detected, but have not been fully described. 		SP Function: Gene Ontology:

molecular function:
DNA binding

molecular function:
NAD+ ADP-ribosyltransferase activity

cellular component:
nucleus

biological process:
protein amino acid ADP-ribosylation

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H016296_01

Name:
Dolichyl – diphosphooligosaccharide – protein glycosyltransferase
UniGene:
Hs.523145

Gene Symbol:
DDOST

Locus Link:
1650

Chromosome:
1
Cytoband:
1p36.1

Sum Func: SP Function:
essential subunit of n-oligosaccharyl transferase enzyme which catalyzes the transfer of a high mannose oligosaccharide to an asparagine residue within an asn-x-ser/thr consensus motif in nascent polypeptide chains. 		Gene Ontology:

biological process:
N-linked glycosylation via asparagine

molecular function:
Dolichyl – diphosphooligosaccharide – protein glycotransferase activity

cellular component:
endoplasmic reticulum membrane

cellular component:
integral to membrane

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:

1: Glycoprotein Biosynthesis
Unique id
: H016365_01

Name:
Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase
UniGene:
Hs.239666

Gene Symbol:
C1GALT1

Locus Link:
56913

Chromosome:
7
Cytoband:
7p14-p13

Sum Func: SP Function: Gene Ontology:

molecular function:
glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: O-Glycans Biosynthesis
Unique id
: H001241_01

Name:
Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)
UniGene:
Hs.169238

Gene Symbol:
FUT3

Locus Link:
2525

Chromosome:
19;11
Cytoband:
19p13.3

Sum Func: SP Function:
may catalyze alpha-1,3 and alpha-1,4 glycosidic linkages involved in the expression of vim-2, lewis a, lewis b, sialyl lewis x and lewis x/ssea-1 antigens. may be involved in blood group lewis determination; lewis-positive (le(+)) individuals have an active enzyme while lewis-negative (le(-)) individuals have an inactive enzyme. 		Gene Ontology:

molecular function:
3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity

cellular component:
Golgi apparatus

biological process:
carbohydrate metabolism

cellular component:
integral to membrane

cellular component:
membrane fraction

biological process:
protein amino acid glycosylation

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Blood Group Glycolipid Biosynthesis – Lact Series
Unique id
: H001247_01

Name:
Sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase)
UniGene:
Hs.408614

Gene Symbol:
SIAT8A

Locus Link:
6489

Chromosome:
12
Cytoband:
12p12.1-p11.2

Sum Func:
Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. 		SP Function:
involved in the production of gd3 and gt3 from gm3. 		Gene Ontology:

cellular component:
Golgi apparatus

molecular function:
alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity

biological process:
carbohydrate metabolism

biological process:
glycosphingolipid biosynthesis

cellular component:
integral to membrane

biological process:
protein amino acid glycosylation

 BioCarta Pathways:
 KEGG Pathways:

1: Blood Group Glycolipid Biosynthesis – Neolact Series

2: Globoside Metabolism

3: Ganglioside Biosynthesis
Unique id
: H001256_01

Name:
Sialyltransferase 4C (beta-galactoside alpha-2,3-sialyltransferase)
UniGene:
Hs.504251

Gene Symbol:
SIAT4C

Locus Link:
6484

Chromosome:
11
Cytoband:
11q23-q24

Sum Func: SP Function:
it may catalyze the formation of the neuac-alpha-2,3- gal-beta-1,3-galnac- or neuac-alpha-2,3-gal-beta-1,3-glcnac- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. it may be involved in the biosynthesis of the sialyl lewis x determinant. 		Gene Ontology:

cellular component:
Golgi apparatus

molecular function:
beta-galactoside alpha-2,3-sialyltransferase activity

cellular component:
integral to membrane

biological process:
protein amino acid glycosylation

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: O-Glycans Biosynthesis

2: Globoside Metabolism

3: Ganglioside Biosynthesis
Unique id
: H001928_01

Name:
CD1D antigen, d polypeptide
UniGene:
Hs.1799

Gene Symbol:
CD1D

Locus Link:
912

Chromosome:
1
Cytoband:
1q22-q23

Sum Func:
CD1D is the sole group-2 member of the CD1 family of major histocompatibility (MHC)-like glycoproteins. See CD1A (MIM 188370) for background on CD1 molecules.[supplied by OMIM] 		SP Function:
not known. 		Gene Ontology:

biological process:
T-cell selection

biological process:
antigen presentation, endogenous lipid antigen

biological process:
antigen presentation, endogenous peptide antigen

molecular function:
beta-2-microglobulin binding

biological process:
detection of bacteria

molecular function:
exogenous lipid antigen binding

cellular component:
integral to plasma membrane

biological process:
positive regulation of innate immune response

molecular function:
protein heterodimerization activity

molecular function:
receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002266_01

Name:
Ras homolog gene family, member H
UniGene:
Hs.160673

Gene Symbol:
RHOH

Locus Link:
399

Chromosome:
4
Cytoband:
4p13

Sum Func:
The protein encoded by this gene is a member of the Ras superfamily of small GTPases. Expression of a chimeric transcript of LAZ3 and this gene has been reported as a result of the translocation t(3;4) in non-Hodgkin's lymphomas. This gene encodes a small G-like protein, and unlike most other small G proteins which are expressed ubiquitously, this gene is transcribed only in hemopoietic cells. 		SP Function: Gene Ontology:

molecular function:
GTP binding

molecular function:
GTPase inhibitor activity

molecular function:
Rho GTPase binding

biological process:
T-cell differentiation

cellular component:
cytoplasm

molecular function:
kinase inhibitor activity

biological process:
negative regulation of I-kappa B kinase/NF-kappaB cascade

biological process:
regulation of transcription

biological process:
small GTPase mediated signal transduction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002425_01

Name:
CD2 antigen (p50), sheep red blood cell receptor
UniGene:
Hs.523500

Gene Symbol:
CD2

Locus Link:
914

Chromosome:
1
Cytoband:
1p13

Sum Func: SP Function:
cd2 interacts with lymphocyte function-associated antigen (lfa-3) and cd48/bcm1 to mediate adhesion between t cells and other cell types. cd2 is implicated in the triggering of t- cells, the cytoplasmic domain is implicated in the signaling function. 		Gene Ontology:

biological process:
T-cell activation

biological process:
cell surface receptor linked signal transduction

biological process:
cell-cell adhesion

biological process:
induction of apoptosis

cellular component:
integral to plasma membrane

biological process:
lipid raft polarization

biological process:
natural killer cell activation

biological process:
positive regulation of dendritic cell activation

molecular function:
protein binding

molecular function:
receptor activity

biological process:
regulation of T-cell differentiation

 BioCarta Pathways:

1: Dendritic cells in regulating TH1 and TH2 Development

2: IL 17 Signaling Pathway

3: NO2-dependent IL 12 Pathway in NK cells

4: Stathmin and breast cancer resistance to antimicrotubule agents

5: T Cytotoxic Cell Surface Molecules

6: T Helper Cell Surface Molecules

 KEGG Pathways:
Unique id
: H002429_01

Name:
Tumor necrosis factor receptor superfamily, member 7
UniGene:
Hs.355307

Gene Symbol:
TNFRSF7

Locus Link:
939

Chromosome:
12
Cytoband:
12p13

Sum Func:
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. 		SP Function:
receptor for tnfsf7/cd27l. may play a role in survival of activated t-cells. may play a role in apoptosis through association with siva. 		Gene Ontology:

biological process:
B-cell proliferation

molecular function:
DNA binding

biological process:
apoptosis

molecular function:
caspase inhibitor activity

biological process:
cell surface receptor linked signal transduction

biological process:
chromosome organization and biogenesis (sensu Eukaryota)

cellular component:
extracellular region

biological process:
humoral defense mechanism (sensu Vertebrata)

biological process:
immune response

biological process:
immunoglobulin secretion

biological process:
induction of apoptosis

biological process:
inhibition of caspase activation

cellular component:
integral to plasma membrane

cellular component:
nucleosome

cellular component:
nucleus

biological process:
positive regulation of B-cell differentiation

biological process:
positive regulation of JNK cascade

biological process:
positive regulation of T-cell differentiation

biological process:
positive regulation of interferon-gamma biosynthesis

molecular function:
protein binding

molecular function:
protein binding

biological process:
release of cytoplasmic sequestered NF-kappaB

biological process:
spermatogenesis

molecular function:
transmembrane receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002710_01

Name:
Interleukin 10
UniGene:
Hs.193717

Gene Symbol:
IL10

Locus Link:
3586

Chromosome:
1
Cytoband:
1q31-q32

Sum Func:
The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. 		SP Function:
inhibits the synthesis of a number of cytokines, including ifn-gamma, il-2, il-3, tnf and gm-csf produced by activated macrophages and by helper t cells. 		Gene Ontology:

biological process:
B-cell differentiation

biological process:
B-cell proliferation

biological process:
T-helper 2 type immune response

biological process:
anti-apoptosis

biological process:
cell-cell signaling

molecular function:
cytokine activity

biological process:
cytoplasmic sequestering of NF-kappaB

cellular component:
extracellular region

biological process:
hemopoiesis

biological process:
immune cell chemotaxis

biological process:
immune response

molecular function:
interleukin-10 receptor binding

biological process:
negative regulation of MHC class II biosynthesis

biological process:
negative regulation of T-cell proliferation

biological process:
negative regulation of interferon-alpha biosynthesis

biological process:
negative regulation of interferon-gamma biosynthesis

biological process:
negative regulation of nitric oxide biosynthesis

biological process:
regulation of isotype switching

 BioCarta Pathways:

1: Antigen Dependent B Cell Activation

2: Cytokine Network

3: Dendritic cells in regulating TH1 and TH2 Development

4: IL-10 Anti-inflammatory Signaling Pathway

5: Cytokines and Inflammatory Response

 KEGG Pathways:
Unique id
: H003360_01

Name:
CD4 antigen (p55)
UniGene:
Hs.17483

Gene Symbol:
CD4

Locus Link:
920

Chromosome:
12
Cytoband:
12pter-p12

Sum Func: SP Function:
accessory protein for mhc class-ii antigen/t-cell receptor interaction. may regulate t-cell activation. 		Gene Ontology:

molecular function:
MHC class II protein binding

biological process:
T-cell differentiation

cellular component:
T-cell receptor complex

biological process:
T-cell selection

biological process:
cell adhesion

molecular function:
coreceptor activity

biological process:
immune response

cellular component:
integral to membrane

cellular component:
plasma membrane

biological process:
positive regulation of interleukin-2 biosynthesis

molecular function:
transmembrane receptor activity

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:

1: Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor

2: Antigen Dependent B Cell Activation

3: Bystander B Cell Activation

4: IL 17 Signaling Pathway

5: IL 5 Signaling Pathway

6: Cytokines and Inflammatory Response

7: Selective expression of chemokine receptors during T-cell polarization

8: NO2-dependent IL 12 Pathway in NK cells

9: Regulation of hematopoiesis by cytokines

10: HIV Induced T Cell Apoptosis

11: Lck and Fyn tyrosine kinases in initiation of TCR Activation

12: T Helper Cell Surface Molecules

13: HIV-1 defeats host-mediated resistance by CEM15

 KEGG Pathways:
Unique id
: H003645_01

Name:
Interleukin 11
UniGene:
Hs.467304

Gene Symbol:
IL11

Locus Link:
3589

Chromosome:
19
Cytoband:
19q13.3-q13.4

Sum Func:
The protein encoded by this gene is a member of the gp130 family of cytokines. These cytokines drive the assembly of multisubunit receptor complexes, all of which contain at least one molecule of the transmembrane signaling receptor IL6ST (gp130). This cytokine is shown to stimulate the T-cell-dependent development of immunoglobulin-producing B cells. It is also found to support the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells. 		SP Function:
directly stimulates the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells and induces megakaryocyte maturation resulting in increased platelet production. 		Gene Ontology:

biological process:
B-cell differentiation

biological process:
adipocyte differentiation

biological process:
cell-cell signaling

molecular function:
cytokine activity

cellular component:
extracellular region

molecular function:
interleukin-11 receptor binding

biological process:
megakaryocyte differentiation

biological process:
platelet activation

biological process:
positive regulation of cell proliferation

 BioCarta Pathways:

1: Erythrocyte Differentiation Pathway

2: Cytokines and Inflammatory Response

3: Regulation of hematopoiesis by cytokines

 KEGG Pathways:
Unique id
: H003675_01

Name:
Inhibin, alpha
UniGene:
Hs.407506

Gene Symbol:
INHA

Locus Link:
3623

Chromosome:
2
Cytoband:
2q33-q36

Sum Func:
The inhibin alpha subunit joins either the beta A or beta B subunit to form a pituitary FSH secretion inhibitor. Inhibin has been shown to regulate gonadal stromal cell proliferation negatively and to have tumor-suppressor activity. In addition, serum levels of inhibin have been shown to reflect the size of granulosa-cell tumors and can therefore be used as a marker for primary as well as recurrent disease. However, in prostate cancer, expression of the inhibin alpha-subunit gene was suppressed and was not detectable in poorly differentiated tumor cells. Furthermore, because expression in gonadal and various extragonadal tissues may vary severalfold in a tissue-specific fashion, it is proposed that inhibin may be both a growth/differentiation factor and a hormone. 		SP Function:
inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. inhibins appear to oppose the functions of activins. 		Gene Ontology:

molecular function:
activin inhibitor activity

biological process:
cell cycle arrest

biological process:
cell differentiation

biological process:
cell growth and/or maintenance

biological process:
cell surface receptor linked signal transduction

biological process:
cell-cell signaling

molecular function:
cytokine activity

biological process:
erythrocyte differentiation

cellular component:
extracellular region

molecular function:
growth factor activity

biological process:
hemoglobin biosynthesis

molecular function:
hormone activity

biological process:
induction of apoptosis

biological process:
negative regulation of B-cell differentiation

biological process:
negative regulation of cell cycle

biological process:
negative regulation of follicle-stimulating hormone secretion

biological process:
negative regulation of interferon-gamma biosynthesis

biological process:
negative regulation of macrophage differentiation

biological process:
negative regulation of phosphorylation

biological process:
neurogenesis

biological process:
ovarian follicle development

biological process:
positive regulation of follicle-stimulating hormone secretion

molecular function:
protein binding

biological process:
response to external stimulus

biological process:
skeletal development

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006273_01

Name:
B cell RAG associated protein
UniGene:
Hs.287537

Gene Symbol:
GALNAC4S-6ST

Locus Link:
196707>51363; 196707

Chromosome:
10
Cytoband:
10q26

Sum Func: SP Function: Gene Ontology:

molecular function:
3'-phosphoadenosine 5'-phosphosulfate binding

molecular function:
N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity

molecular function:
N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity

biological process:
hexose biosynthesis

biological process:
hexose biosynthesis

cellular component:
integral to membrane

cellular component:
integral to membrane

biological process:
regulation of B-cell differentiation

biological process:
regulation of DNA recombination

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H007319_01

Name:
Histone deacetylase 5
UniGene:
Hs.438782

Gene Symbol:
HDAC5

Locus Link:
10014

Chromosome:
17
Cytoband:
17q21

Sum Func:
Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been noted for this gene. 		SP Function: Gene Ontology:

biological process:
B-cell differentiation

biological process:
chromatin modification

biological process:
chromatin silencing

cellular component:
cytoplasm

molecular function:
histone deacetylase activity

cellular component:
histone deacetylase complex

molecular function:
hydrolase activity

biological process:
inflammatory response

biological process:
negative regulation of myogenesis

cellular component:
nucleus

biological process:
regulation of cell cycle

biological process:
regulation of transcription, DNA-dependent

molecular function:
specific transcriptional repressor activity

molecular function:
transcription factor binding

 BioCarta Pathways:

1: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)

2: Regulation of PGC-1a

 KEGG Pathways:
Unique id
: H007722_01

Name:
Histone deacetylase 7A
UniGene:
Hs.200063

Gene Symbol:
HDAC7A

Locus Link:
51564

Chromosome:
12
Cytoband:
12q13.1

Sum Func:
Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. Two alternatively spliced transcript variants have been observed for the gene. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via transcriptional corepressor SMRT. 		SP Function: Gene Ontology:

biological process:
B-cell differentiation

biological process:
chromatin modification

cellular component:
cytoplasm

molecular function:
histone deacetylase activity

cellular component:
histone deacetylase complex

molecular function:
hydrolase activity

biological process:
inflammatory response

biological process:
negative regulation of myogenesis

biological process:
neurogenesis

cellular component:
nucleus

biological process:
regulation of cell cycle

biological process:
regulation of transcription, DNA-dependent

molecular function:
specific transcriptional repressor activity

molecular function:
transcription factor binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H010381_01

Name:
Suppressor of cytokine signaling 5
UniGene:
Hs.468426

Gene Symbol:
SOCS5

Locus Link:
9655

Chromosome:
2
Cytoband:
2p21

Sum Func:
The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS) family, also known as STAT-induced STAT inhibitor (SSI) protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The specific function of this protein has not yet been determined. Two alternatively spliced transcript variants encoding an identical protein have been reported. 		SP Function:
socs family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. socs5 is involved in regulating t-helper cell differentiation by inhibition of the il4 signaling pathway which promotes differentiation into the th2 phenotype. can also partially inhibit il6 and lif signaling (by similarity). 		Gene Ontology:

biological process:
JAK-STAT cascade

biological process:
cytokine and chemokine mediated signaling pathway

cellular component:
cytoplasm

biological process:
intracellular signaling cascade

molecular function:
kinase inhibitor activity

biological process:
negative regulation of T-helper 2 cell differentiation

biological process:
negative regulation of signal transduction

biological process:
positive regulation of T-helper 1 cell differentiation

molecular function:
protein binding

biological process:
regulation of cell growth

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H014345_01

Name:
Activation-induced cytidine deaminase
UniGene:
Hs.149342

Gene Symbol:
AICDA

Locus Link:
57379

Chromosome:
12
Cytoband:
12p13

Sum Func: SP Function: Gene Ontology:

biological process:
B-cell differentiation

cellular component:
cellular_component unknown

molecular function:
cytidine deaminase activity

molecular function:
hydrolase activity

biological process:
mRNA processing

molecular function:
zinc ion binding

 BioCarta Pathways:

1: Y branching of actin filaments

2: Role of PI3K subunit p85 in regulation of Actin Organization and Cell Migration

3: How Progesterone Initiates the Oocyte Maturation

4: Rho cell motility signaling pathway

5: How does salmonella hijack a cell

 KEGG Pathways:

1: Pyrimidine Metabolism
Unique id
: H015306_01

Name:
Core promoter element binding protein
UniGene:
Hs.285313

Gene Symbol:
COPEB

Locus Link:
1316

Chromosome:
10
Cytoband:
10p15

Sum Func:
This gene encodes a nuclear protein that has three zinc fingers at the end of its C-terminal domain, a serine/threonine-rich central region, and an acidic domain lying within the N-terminal region. The zinc fingers of this protein are responsible for the specific DNA binding with the guanine-rich core promoter elements. The central region might be involved in activation or posttranslational regulatory pathways, and the acidic N-terminal domain might play an important role in the process of transcriptional activation. It is capable of activating transcription approximately 4-fold either on homologous or heterologous promoters. The DNA binding and transcriptional activity of this protein, in conjunction with its expression pattern, suggests that this protein may participate in the regulation and/or maintenance of the basal expression of pregnancy-specific glycoprotein genes and possibly other TATA box-less genes. Two transcript variants encoding the same protein have been found for this gene. 		SP Function:
transcriptional activator (by similarity). binds a gc box motif. could play a role in b-cell growth and development. 		Gene Ontology:

biological process:
B-cell differentiation

molecular function:
DNA binding

biological process:
cell growth

molecular function:
nucleic acid binding

cellular component:
nucleus

cellular component:
nucleus

biological process:
regulation of transcription, DNA-dependent

molecular function:
transcriptional activator activity

molecular function:
zinc ion binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H016104_01

Name:
WW domain containing E3 ubiquitin protein ligase 1
UniGene:
Hs.533440

Gene Symbol:
WWP1

Locus Link:
11059

Chromosome:
8
Cytoband:
8q21

Sum Func:
WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteasomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. 		SP Function: Gene Ontology:

biological process:
T-cell differentiation

biological process:
central nervous system development

molecular function:
ligase activity

biological process:
lung development

biological process:
negative regulation of transcription

molecular function:
protein binding

molecular function:
protein binding

biological process:
protein ubiquitination

biological process:
signal transduction

cellular component:
ubiquitin ligase complex

molecular function:
ubiquitin-protein ligase activity

biological process:
viral entry

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002124_01

Name:
Protein phosphatase 1, catalytic subunit, gamma isoform
UniGene:
Hs.79081

Gene Symbol:
PPP1CC

Locus Link:
5501

Chromosome:
12;20
Cytoband:
12q24.1-q24.2

Sum Func: SP Function:
protein phosphatase 1 (pp1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. involved in regulation of ionic conductances and long-term synaptic plasticity. may play an important role in dephosphorylating substrates such as the postsynaptic density-associated ca(2+)/calmodulin dependent protein kinase ii. 		Gene Ontology:

biological process:
cytokinesis

biological process:
glycogen metabolism

molecular function:
hydrolase activity

molecular function:
manganese ion binding

molecular function:
phosphoprotein phosphatase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002947_01

Name:
Protein phosphatase 1, catalytic subunit, alpha isoform
UniGene:
Hs.183994

Gene Symbol:
PPP1CA

Locus Link:
5499

Chromosome:
11;16
Cytoband:
11q13

Sum Func:
The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies in both human and mice suggest that PP1 is an important regulator of cardiac function. Mouse studies also suggest that PP1 functions as a suppressor of learning and memory. Alternatively spliced transcript variants encoding the distinct isoforms have been observed. 		SP Function: Gene Ontology:

biological process:
cytokinesis

biological process:
glycogen metabolism

molecular function:
hydrolase activity

molecular function:
manganese ion binding

molecular function:
phosphoprotein phosphatase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003968_01

Name:
Phosphorylase, glycogen; brain
UniGene:
Hs.368157

Gene Symbol:
PYGB

Locus Link:
5834

Chromosome:
20
Cytoband:
20p11.2-p11.1

Sum Func:
The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. 		SP Function:
phosphorylase is an important allosteric enzyme in carbohydrate metabolism. enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. however, all known phosphorylases share catalytic and structural properties. 		Gene Ontology:

biological process:
carbohydrate metabolism

biological process:
glycogen catabolism

molecular function:
phosphorylase activity

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Starch and Sucrose Metabolism
Unique id
: H006644_01

Name:
Phosphorylase kinase, alpha 2 (liver)
UniGene:
Hs.54941

Gene Symbol:
PHKA2

Locus Link:
5256

Chromosome:
X
Cytoband:
Xp22.2-p22.1

Sum Func: SP Function:
phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin i. the alpha chain may bind calmodulin. 		Gene Ontology:

molecular function:
calmodulin binding

biological process:
carbohydrate metabolism

biological process:
energy pathways

biological process:
glycogen metabolism

molecular function:
phosphorylase kinase activity

cellular component:
phosphorylase kinase complex

biological process:
protein modification

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000624_01

Name:
Phosphorylase kinase, beta
UniGene:
Hs.78060

Gene Symbol:
PHKB

Locus Link:
5257

Chromosome:
16;1
Cytoband:
16q12-q13

Sum Func: SP Function:
phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin i. the beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation. 		Gene Ontology:

molecular function:
calmodulin binding

biological process:
energy pathways

biological process:
glycogen catabolism

biological process:
glycogen metabolism

molecular function:
phosphorylase kinase activity

molecular function:
phosphorylase kinase regulator activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000650_01

Name:
Glycogen synthase kinase 3 beta
UniGene:
Hs.445733

Gene Symbol:
GSK3B

Locus Link:
2932

Chromosome:
3
Cytoband:
3q13.3

Sum Func:
Glycogen synthase kinase-3 (GSK3) is a proline-directed serine-threonine kinase that was initially identified as a phosphorylating and inactivating glycogen synthase. Two isoforms, alpha (GSK3A; MIM 606784) and beta, show a high degree of amino acid homology (Stambolic and Woodgett, 1994 [PubMed 7980435]). GSK3B is involved in energy metabolism, neuronal cell development, and body pattern formation (Plyte et al., 1992 [PubMed 1333807]).[supplied by OMIM] 		SP Function:
participates in the wnt signaling pathway. implicated in the hormonal control of several regulatory proteins including glycogen synthase, myb and the transcription factor jun. phosphorylates jun at sites proximal to its dna-binding domain, thereby reducing its affinity for DNA. 		Gene Ontology:

molecular function:
ATP binding

biological process:
Wnt receptor signaling pathway

biological process:
glycogen metabolism

molecular function:
glycogen synthase kinase 3 activity

biological process:
protein amino acid phosphorylation

molecular function:
transferase activity

 BioCarta Pathways:

1: ALK in cardiac myocytes

2: Regulation of eIF2

3: Cell Cycle: G1/S Check Point

4: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages

5: Segmentation Clock

6: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway

7: NFAT and Hypertrophy of the heart (Transcription in the broken heart)

8: Deregulation of CDK5 in Alzheimer's Disease

9: Multi-step Regulation of Transcription by Pitx2

10: Presenilin action in Notch and Wnt signaling

11: Phosphoinositides and their downstream targets.

12: Sonic Hedgehog (Shh) Pathway

13: WNT Signaling Pathway

 KEGG Pathways:
Unique id
: H007877_01

Name:
Epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
UniGene:
Hs.486696

Gene Symbol:
EPM2A

Locus Link:
7957

Chromosome:
6
Cytoband:
6q24

Sum Func: SP Function: Gene Ontology:

cellular component:
endoplasmic reticulum

biological process:
glycogen metabolism

molecular function:
hydrolase activity

cellular component:
nucleus

biological process:
protein amino acid dephosphorylation

molecular function:
protein tyrosine/serine/threonine phosphatase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000679_01

Name:
Phosphorylase kinase, gamma 1 (muscle)
UniGene:
Hs.512612

Gene Symbol:
PHKG1

Locus Link:
5260

Chromosome:
7
Cytoband:
7p12-q21

Sum Func:
Phosphorylase kinase (EC 2.7.1.38) is a crucial glycogenolytic regulatory enzyme. The holoenzymes are composed of 16 subunit proteins containing equimolar ratios of 4 subunit types known as alpha, beta, gamma, and delta. Skeletal muscle contains the highest amount of phosphorylase kinase enzymatic activity, although activity is also observed in liver, cardiac muscle, brain, and several other tissues. Kinetic differences exist between the cardiac and adult skeletal muscle enzymes, and the liver and skeletal muscle enzymes are known to be separate isozymes.[supplied by OMIM] 		SP Function:
phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin i. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
calmodulin binding

biological process:
carbohydrate metabolism

biological process:
energy pathways

biological process:
glycogen biosynthesis

biological process:
muscle development

molecular function:
phosphorylase kinase activity

cellular component:
phosphorylase kinase complex

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000682_01

Name:
Phosphorylase kinase, gamma 2 (testis)
UniGene:
Hs.196177

Gene Symbol:
PHKG2

Locus Link:
5261

Chromosome:
16;5
Cytoband:
16p12.1-p11.2

Sum Func: SP Function:
phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin i. this isozyme may regulate glycogenolysis in the testis. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
ATP binding

molecular function:
calmodulin binding

biological process:
energy pathways

biological process:
glycogen biosynthesis

molecular function:
phosphorylase kinase activity

molecular function:
phosphorylase kinase activity

cellular component:
phosphorylase kinase complex

cellular component:
phosphorylase kinase complex

biological process:
protein amino acid phosphorylation

biological process:
protein amino acid phosphorylation

molecular function:
protein kinase activity

molecular function:
protein serine/threonine kinase activity

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000788_01

Name:
Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)
UniGene:
Hs.436062

Gene Symbol:
GBE1

Locus Link:
2632

Chromosome:
3
Cytoband:
3p12.3

Sum Func:
This monomeric enzyme functions in glycogen synthesis by catalyzing the formation of alpha 1,6- glucosidic linkages. It is most highly expressed in liver and muscle. Deficiency can result in glycogen storage disease IV (Andersen's disease). 		SP Function:
required for sufficient glycogen accumulation. the alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells. 		Gene Ontology:

molecular function:
1,4-alpha-glucan branching enzyme activity

molecular function:
alpha-amylase activity

biological process:
carbohydrate metabolism

biological process:
energy pathways

biological process:
glycogen biosynthesis

molecular function:
hydrolase activity, hydrolyzing O-glycosyl compounds

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Starch and Sucrose Metabolism
Unique id
: H000864_01

Name:
Glycogenin 2
UniGene:
Hs.186799

Gene Symbol:
GYG2

Locus Link:
8908

Chromosome:
X
Cytoband:
Xp22.3

Sum Func: SP Function:
self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase. 		Gene Ontology:

biological process:
carbohydrate biosynthesis

biological process:
glycogen biosynthesis

molecular function:
glycogenin glucosyltransferase activity

cellular component:
soluble fraction

molecular function:
transferase activity

molecular function:
transferase activity, transferring hexosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000888_01

Name:
Glycogenin
UniGene:
Hs.477892

Gene Symbol:
GYG

Locus Link:
2992

Chromosome:
3
Cytoband:
3q24-q25.1

Sum Func: SP Function:
self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase. 		Gene Ontology:

biological process:
carbohydrate biosynthesis

biological process:
glycogen biosynthesis

molecular function:
glycogenin glucosyltransferase activity

molecular function:
transferase activity

molecular function:
transferase activity, transferring hexosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H011716_01

Name:
Phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI)
UniGene:
Hs.282417

Gene Symbol:
PYGL

Locus Link:
5836

Chromosome:
14
Cytoband:
14q21-q22

Sum Func: SP Function:
phosphorylase is an important allosteric enzyme in carbohydrate metabolism. enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. however, all known phosphorylases share catalytic and structural properties. 		Gene Ontology:

biological process:
carbohydrate metabolism

biological process:
glycogen metabolism

molecular function:
glycogen phosphorylase activity

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Starch and Sucrose Metabolism
Unique id
: H001136_01

Name:
Glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)
UniGene:
Hs.212293

Gene Symbol:
G6PC

Locus Link:
2538

Chromosome:
17
Cytoband:
17q21

Sum Func:
Glucose-6-phosphatase is an integral membrane protein of the endoplasmic reticulum that catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate. It is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Defects in the enzyme cause glycogen storage disease type I (von Gierke disease). 		SP Function:
may be a single membrane channel protein acting both as a hydrolase and a translocase. it is the key enzyme in homeostatic regulation of blood glucose levels. 		Gene Ontology:

cellular component:
endoplasmic reticulum

cellular component:
endoplasmic reticulum

biological process:
glucose metabolism

molecular function:
glucose-6-phosphatase activity

biological process:
glycogen biosynthesis

biological process:
glycogen metabolism

molecular function:
hydrolase activity

cellular component:
integral to membrane

cellular component:
integral to membrane

cellular component:
microsome

molecular function:
sugar porter activity

biological process:
transport

molecular function:
transporter activity

 BioCarta Pathways:
 KEGG Pathways:

1: Glycolysis_Gluconeogenesis

2: Galactose Metabolism

3: Starch and Sucrose Metabolism
Unique id
: H001378_01

Name:
Phosphofructokinase, muscle
UniGene:
Hs.75160

Gene Symbol:
PFKM

Locus Link:
5213

Chromosome:
12;7;20
Cytoband:
12q13.3

Sum Func: SP Function: Gene Ontology:

molecular function:
6-phosphofructokinase activity

cellular component:
6-phosphofructokinase complex

molecular function:
ATP binding

cellular component:
cytoplasm

biological process:
glucose metabolism

biological process:
glycogen metabolism

biological process:
glycolysis

molecular function:
kinase activity

molecular function:
magnesium ion binding

biological process:
regulation of glycolysis

molecular function:
transferase activity

 BioCarta Pathways:

1: Phosphoinositides and their downstream targets.

 KEGG Pathways:

1: Glycolysis_Gluconeogenesis

2: Pentose Phosphate Cycle

3: Fructose and Mannose Metabolism

4: Galactose Metabolism
Unique id
: H002124_01

Name:
Protein phosphatase 1, catalytic subunit, gamma isoform
UniGene:
Hs.79081

Gene Symbol:
PPP1CC

Locus Link:
5501

Chromosome:
12;20
Cytoband:
12q24.1-q24.2

Sum Func: SP Function:
protein phosphatase 1 (pp1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. involved in regulation of ionic conductances and long-term synaptic plasticity. may play an important role in dephosphorylating substrates such as the postsynaptic density-associated ca(2+)/calmodulin dependent protein kinase ii. 		Gene Ontology:

biological process:
cytokinesis

biological process:
glycogen metabolism

molecular function:
hydrolase activity

molecular function:
manganese ion binding

molecular function:
phosphoprotein phosphatase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002947_01

Name:
Protein phosphatase 1, catalytic subunit, alpha isoform
UniGene:
Hs.183994

Gene Symbol:
PPP1CA

Locus Link:
5499

Chromosome:
11;16
Cytoband:
11q13

Sum Func:
The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies in both human and mice suggest that PP1 is an important regulator of cardiac function. Mouse studies also suggest that PP1 functions as a suppressor of learning and memory. Alternatively spliced transcript variants encoding the distinct isoforms have been observed. 		SP Function: Gene Ontology:

biological process:
cytokinesis

biological process:
glycogen metabolism

molecular function:
hydrolase activity

molecular function:
manganese ion binding

molecular function:
phosphoprotein phosphatase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003968_01

Name:
Phosphorylase, glycogen; brain
UniGene:
Hs.368157

Gene Symbol:
PYGB

Locus Link:
5834

Chromosome:
20
Cytoband:
20p11.2-p11.1

Sum Func:
The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. 		SP Function:
phosphorylase is an important allosteric enzyme in carbohydrate metabolism. enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. however, all known phosphorylases share catalytic and structural properties. 		Gene Ontology:

biological process:
carbohydrate metabolism

biological process:
glycogen catabolism

molecular function:
phosphorylase activity

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Starch and Sucrose Metabolism
Unique id
: H006644_01

Name:
Phosphorylase kinase, alpha 2 (liver)
UniGene:
Hs.54941

Gene Symbol:
PHKA2

Locus Link:
5256

Chromosome:
X
Cytoband:
Xp22.2-p22.1

Sum Func: SP Function:
phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin i. the alpha chain may bind calmodulin. 		Gene Ontology:

molecular function:
calmodulin binding

biological process:
carbohydrate metabolism

biological process:
energy pathways

biological process:
glycogen metabolism

molecular function:
phosphorylase kinase activity

cellular component:
phosphorylase kinase complex

biological process:
protein modification

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000624_01

Name:
Phosphorylase kinase, beta
UniGene:
Hs.78060

Gene Symbol:
PHKB

Locus Link:
5257

Chromosome:
16;1
Cytoband:
16q12-q13

Sum Func: SP Function:
phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin i. the beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation. 		Gene Ontology:

molecular function:
calmodulin binding

biological process:
energy pathways

biological process:
glycogen catabolism

biological process:
glycogen metabolism

molecular function:
phosphorylase kinase activity

molecular function:
phosphorylase kinase regulator activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000650_01

Name:
Glycogen synthase kinase 3 beta
UniGene:
Hs.445733

Gene Symbol:
GSK3B

Locus Link:
2932

Chromosome:
3
Cytoband:
3q13.3

Sum Func:
Glycogen synthase kinase-3 (GSK3) is a proline-directed serine-threonine kinase that was initially identified as a phosphorylating and inactivating glycogen synthase. Two isoforms, alpha (GSK3A; MIM 606784) and beta, show a high degree of amino acid homology (Stambolic and Woodgett, 1994 [PubMed 7980435]). GSK3B is involved in energy metabolism, neuronal cell development, and body pattern formation (Plyte et al., 1992 [PubMed 1333807]).[supplied by OMIM] 		SP Function:
participates in the wnt signaling pathway. implicated in the hormonal control of several regulatory proteins including glycogen synthase, myb and the transcription factor jun. phosphorylates jun at sites proximal to its dna-binding domain, thereby reducing its affinity for DNA. 		Gene Ontology:

molecular function:
ATP binding

biological process:
Wnt receptor signaling pathway

biological process:
glycogen metabolism

molecular function:
glycogen synthase kinase 3 activity

biological process:
protein amino acid phosphorylation

molecular function:
transferase activity

 BioCarta Pathways:

1: ALK in cardiac myocytes

2: Regulation of eIF2

3: Cell Cycle: G1/S Check Point

4: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages

5: Segmentation Clock

6: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway

7: NFAT and Hypertrophy of the heart (Transcription in the broken heart)

8: Deregulation of CDK5 in Alzheimer's Disease

9: Multi-step Regulation of Transcription by Pitx2

10: Presenilin action in Notch and Wnt signaling

11: Phosphoinositides and their downstream targets.

12: Sonic Hedgehog (Shh) Pathway

13: WNT Signaling Pathway

 KEGG Pathways:
Unique id
: H007877_01

Name:
Epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
UniGene:
Hs.486696

Gene Symbol:
EPM2A

Locus Link:
7957

Chromosome:
6
Cytoband:
6q24

Sum Func: SP Function: Gene Ontology:

cellular component:
endoplasmic reticulum

biological process:
glycogen metabolism

molecular function:
hydrolase activity

cellular component:
nucleus

biological process:
protein amino acid dephosphorylation

molecular function:
protein tyrosine/serine/threonine phosphatase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000679_01

Name:
Phosphorylase kinase, gamma 1 (muscle)
UniGene:
Hs.512612

Gene Symbol:
PHKG1

Locus Link:
5260

Chromosome:
7
Cytoband:
7p12-q21

Sum Func:
Phosphorylase kinase (EC 2.7.1.38) is a crucial glycogenolytic regulatory enzyme. The holoenzymes are composed of 16 subunit proteins containing equimolar ratios of 4 subunit types known as alpha, beta, gamma, and delta. Skeletal muscle contains the highest amount of phosphorylase kinase enzymatic activity, although activity is also observed in liver, cardiac muscle, brain, and several other tissues. Kinetic differences exist between the cardiac and adult skeletal muscle enzymes, and the liver and skeletal muscle enzymes are known to be separate isozymes.[supplied by OMIM] 		SP Function:
phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin i. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
calmodulin binding

biological process:
carbohydrate metabolism

biological process:
energy pathways

biological process:
glycogen biosynthesis

biological process:
muscle development

molecular function:
phosphorylase kinase activity

cellular component:
phosphorylase kinase complex

biological process:
protein amino acid phosphorylation

molecular function:
protein serine/threonine kinase activity

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000682_01

Name:
Phosphorylase kinase, gamma 2 (testis)
UniGene:
Hs.196177

Gene Symbol:
PHKG2

Locus Link:
5261

Chromosome:
16;5
Cytoband:
16p12.1-p11.2

Sum Func: SP Function:
phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin i. this isozyme may regulate glycogenolysis in the testis. 		Gene Ontology:

molecular function:
ATP binding

molecular function:
ATP binding

molecular function:
calmodulin binding

biological process:
energy pathways

biological process:
glycogen biosynthesis

molecular function:
phosphorylase kinase activity

molecular function:
phosphorylase kinase activity

cellular component:
phosphorylase kinase complex

cellular component:
phosphorylase kinase complex

biological process:
protein amino acid phosphorylation

biological process:
protein amino acid phosphorylation

molecular function:
protein kinase activity

molecular function:
protein serine/threonine kinase activity

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000788_01

Name:
Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)
UniGene:
Hs.436062

Gene Symbol:
GBE1

Locus Link:
2632

Chromosome:
3
Cytoband:
3p12.3

Sum Func:
This monomeric enzyme functions in glycogen synthesis by catalyzing the formation of alpha 1,6- glucosidic linkages. It is most highly expressed in liver and muscle. Deficiency can result in glycogen storage disease IV (Andersen's disease). 		SP Function:
required for sufficient glycogen accumulation. the alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells. 		Gene Ontology:

molecular function:
1,4-alpha-glucan branching enzyme activity

molecular function:
alpha-amylase activity

biological process:
carbohydrate metabolism

biological process:
energy pathways

biological process:
glycogen biosynthesis

molecular function:
hydrolase activity, hydrolyzing O-glycosyl compounds

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Starch and Sucrose Metabolism
Unique id
: H000864_01

Name:
Glycogenin 2
UniGene:
Hs.186799

Gene Symbol:
GYG2

Locus Link:
8908

Chromosome:
X
Cytoband:
Xp22.3

Sum Func: SP Function:
self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase. 		Gene Ontology:

biological process:
carbohydrate biosynthesis

biological process:
glycogen biosynthesis

molecular function:
glycogenin glucosyltransferase activity

cellular component:
soluble fraction

molecular function:
transferase activity

molecular function:
transferase activity, transferring hexosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000888_01

Name:
Glycogenin
UniGene:
Hs.477892

Gene Symbol:
GYG

Locus Link:
2992

Chromosome:
3
Cytoband:
3q24-q25.1

Sum Func: SP Function:
self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase. 		Gene Ontology:

biological process:
carbohydrate biosynthesis

biological process:
glycogen biosynthesis

molecular function:
glycogenin glucosyltransferase activity

molecular function:
transferase activity

molecular function:
transferase activity, transferring hexosyl groups

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H011716_01

Name:
Phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI)
UniGene:
Hs.282417

Gene Symbol:
PYGL

Locus Link:
5836

Chromosome:
14
Cytoband:
14q21-q22

Sum Func: SP Function:
phosphorylase is an important allosteric enzyme in carbohydrate metabolism. enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. however, all known phosphorylases share catalytic and structural properties. 		Gene Ontology:

biological process:
carbohydrate metabolism

biological process:
glycogen metabolism

molecular function:
glycogen phosphorylase activity

molecular function:
transferase activity, transferring glycosyl groups

 BioCarta Pathways:
 KEGG Pathways:

1: Starch and Sucrose Metabolism
Unique id
: H001136_01

Name:
Glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)
UniGene:
Hs.212293

Gene Symbol:
G6PC

Locus Link:
2538

Chromosome:
17
Cytoband:
17q21

Sum Func:
Glucose-6-phosphatase is an integral membrane protein of the endoplasmic reticulum that catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate. It is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Defects in the enzyme cause glycogen storage disease type I (von Gierke disease). 		SP Function:
may be a single membrane channel protein acting both as a hydrolase and a translocase. it is the key enzyme in homeostatic regulation of blood glucose levels. 		Gene Ontology:

cellular component:
endoplasmic reticulum

cellular component:
endoplasmic reticulum

biological process:
glucose metabolism

molecular function:
glucose-6-phosphatase activity

biological process:
glycogen biosynthesis

biological process:
glycogen metabolism

molecular function:
hydrolase activity

cellular component:
integral to membrane

cellular component:
integral to membrane

cellular component:
microsome

molecular function:
sugar porter activity

biological process:
transport

molecular function:
transporter activity

 BioCarta Pathways:
 KEGG Pathways:

1: Glycolysis_Gluconeogenesis

2: Galactose Metabolism

3: Starch and Sucrose Metabolism
Unique id
: H001378_01

Name:
Phosphofructokinase, muscle
UniGene:
Hs.75160

Gene Symbol:
PFKM

Locus Link:
5213

Chromosome:
12;7;20
Cytoband:
12q13.3

Sum Func: SP Function: Gene Ontology:

molecular function:
6-phosphofructokinase activity

cellular component:
6-phosphofructokinase complex

molecular function:
ATP binding

cellular component:
cytoplasm

biological process:
glucose metabolism

biological process:
glycogen metabolism

biological process:
glycolysis

molecular function:
kinase activity

molecular function:
magnesium ion binding

biological process:
regulation of glycolysis

molecular function:
transferase activity

 BioCarta Pathways:

1: Phosphoinositides and their downstream targets.

 KEGG Pathways:

1: Glycolysis_Gluconeogenesis

2: Pentose Phosphate Cycle

3: Fructose and Mannose Metabolism

4: Galactose Metabolism
Unique id
: H001593_01

Name:
Diacylglycerol kinase, delta 130kDa
UniGene:
Hs.471675

Gene Symbol:
DGKD

Locus Link:
8527

Chromosome:
2
Cytoband:
2q37.1

Sum Func:
This gene encodes a cytoplasmic enzyme which phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids which act as second messengers in signaling cascades. Their cellular concentrations are regulated by this enzyme, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. 		SP Function: Gene Ontology:

biological process:
cell growth

cellular component:
cytoplasm

biological process:
development

molecular function:
diacylglycerol binding

molecular function:
diacylglycerol kinase activity

molecular function:
diacylglycerol kinase activity

biological process:
diacylglycerol metabolism

biological process:
epidermal growth factor receptor signaling pathway

biological process:
immune response

biological process:
intracellular signaling cascade

molecular function:
protein binding

biological process:
protein homooligomerization

biological process:
protein kinase C activation

biological process:
protein kinase C activation

biological process:
second-messenger-mediated signaling

 BioCarta Pathways:
 KEGG Pathways:

1: Glycerolipid Metabolism

2: Phosphatidylinositol Signaling System
Unique id
: H002040_01

Name:
Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)
UniGene:
Hs.77432

Gene Symbol:
EGFR

Locus Link:
1956

Chromosome:
7;X
Cytoband:
7p12

Sum Func: SP Function:
isoform 2/truncated isoform may act as an antagonist. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cell proliferation

cellular component:
cytoskeleton

cellular component:
endosome

molecular function:
epidermal growth factor receptor activity

biological process:
epidermal growth factor receptor signaling pathway

cellular component:
integral to plasma membrane

biological process:
negative regulation of cell cycle

biological process:
protein amino acid phosphorylation

molecular function:
receptor activity

molecular function:
transferase activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002156_01

Name:
Epidermal growth factor receptor pathway substrate 15
UniGene:
Hs.83722

Gene Symbol:
EPS15

Locus Link:
2060

Chromosome:
1
Cytoband:
1p32

Sum Func:
This gene encodes a protein that is part of the EGFR pathway. The protein is present at clathrin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogenous leukemias. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 		SP Function:
involved in cell growth regulation. may be involved in the regulation of mitogenic signals and control of cell proliferation. involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (rtk) type, in particular egfr (by similarity). 		Gene Ontology:

molecular function:
calcium ion binding

biological process:
cell proliferation

cellular component:
coated pit

biological process:
epidermal growth factor receptor signaling pathway

biological process:
vesicle organization and biogenesis

 BioCarta Pathways:

1: Endocytotic role of NDK, Phosphins and Dynamin

 KEGG Pathways:
Unique id
: H002376_01

Name:
Epidermal growth factor receptor pathway substrate 8
UniGene:
Hs.26139

Gene Symbol:
EPS8

Locus Link:
2059

Chromosome:
12
Cytoband:
12q23-q24

Sum Func:
This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 		SP Function:
upon binding to egf receptor enhances egf-dependent mitogenic signals. can bind multiple cellular targets. 		Gene Ontology:

molecular function:
SH3/SH2 adaptor protein activity

biological process:
cell proliferation

biological process:
epidermal growth factor receptor signaling pathway

biological process:
signal transduction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002632_01

Name:
GRB2-associated binding protein 1
UniGene:
Hs.80720

Gene Symbol:
GAB1

Locus Link:
2549

Chromosome:
4
Cytoband:
4q31.21

Sum Func:
The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. The encoded protein is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. 		SP Function: Gene Ontology:

molecular function:
SH3/SH2 adaptor protein activity

biological process:
cell proliferation

biological process:
epidermal growth factor receptor signaling pathway

biological process:
insulin receptor signaling pathway

molecular function:
protein binding

 BioCarta Pathways:

1: Signaling of Hepatocyte Growth Factor Receptor

 KEGG Pathways:
Unique id
: H006064_01

Name:
Erbb2 interacting protein
UniGene:
Hs.519346

Gene Symbol:
ERBB2IP

Locus Link:
55914

Chromosome:
5
Cytoband:
5q12.3

Sum Func:
This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only two of them have been characterized to date. 		SP Function: Gene Ontology:

molecular function:
ErbB-2 class receptor binding

cellular component:
basal plasma membrane

biological process:
basal protein localization

biological process:
cell adhesion

biological process:
cell cycle

biological process:
cell growth

cellular component:
cytoplasm

biological process:
epidermal growth factor receptor signaling pathway

biological process:
establishment and/or maintenance of epithelial cell polarity

cellular component:
hemidesmosome

molecular function:
integrin binding

biological process:
integrin-mediated signaling pathway

biological process:
intermediate filament cytoskeleton organization and biogenesis

cellular component:
nucleus

molecular function:
protein binding

molecular function:
structural constituent of cytoskeleton

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006279_01

Name:
Phospholipase C, epsilon 1
UniGene:
Hs.20022

Gene Symbol:
PLCE1

Locus Link:
51196

Chromosome:
10
Cytoband:

10q23

Sum Func:
PLCE1 belongs to the phospholipase family that catalyzes the hydrolysis of polyphosphoinositides such as phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P2) to generate the second messengers Ins(1,4,5)P3 and diacylglycerol. These products initiate a cascade of intracellular responses that result in cell growth and differentiation and gene expression.[supplied by OMIM] 		SP Function: Gene Ontology:

molecular function:
Ras interactor activity

molecular function:
Ras interactor activity

biological process:
Ras protein signal transduction

biological process:
activation of MAPK

biological process:
activation of MAPK

biological process:
calcium-mediated signaling

biological process:
calcium-mediated signaling

biological process:
cell proliferation

biological process:
cell proliferation

biological process:
cytoskeleton organization and biogenesis

biological process:
cytoskeleton organization and biogenesis

cellular component:
cytosol

cellular component:
cytosol

biological process:
cytosolic calcium ion concentration elevation

biological process:
cytosolic calcium ion concentration elevation

biological process:
diacylglycerol biosynthesis

biological process:
diacylglycerol biosynthesis

molecular function:
enzyme binding

molecular function:
enzyme binding

biological process:
epidermal growth factor receptor signaling pathway

biological process:
epidermal growth factor receptor signaling pathway

molecular function:
guanyl nucleotide exchange factor activity

molecular function:
guanyl nucleotide exchange factor activity

biological process:
heart development

biological process:
heart development

biological process:
inositol phosphate-mediated signaling

biological process:
inositol phosphate-mediated signaling

biological process:
lipid metabolism

cellular component:
membrane fraction

molecular function:
phosphoinositide phospholipase C activity

biological process:
phospholipid metabolism

biological process:
phospholipid metabolism

cellular component:
plasma membrane

cellular component:
plasma membrane

biological process:
protein kinase C activation

biological process:
protein kinase C activation

molecular function:
receptor signaling protein activity

molecular function:
receptor signaling protein activity

biological process:
regulation of G-protein coupled receptor protein signaling pathway

biological process:
regulation of G-protein coupled receptor protein signaling pathway

biological process:
regulation of Ras protein signal transduction

biological process:
regulation of cell growth

biological process:
regulation of cell growth

biological process:
regulation of protein kinase activity

biological process:
regulation of protein kinase activity

biological process:
regulation of smooth muscle contraction

biological process:
regulation of smooth muscle contraction

biological process:
small GTPase mediated signal transduction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H010696_01

Name:
NCK adaptor protein 2
UniGene:
Hs.529244

Gene Symbol:
NCK2

Locus Link:
8440

Chromosome:
2
Cytoband:
2q12

Sum Func:
This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 		SP Function:
adapter protein which associates with tyrosine- phosphorylated growth factor receptors or their cellular substrates. 		Gene Ontology:

biological process:
T-cell activation

cellular component:
cytoplasm

molecular function:
cytoskeletal adaptor activity

biological process:
intracellular signaling cascade

biological process:
negative regulation of cell proliferation

biological process:
positive regulation of T-cell proliferation

biological process:
positive regulation of actin filament polymerization

molecular function:
protein binding

molecular function:
receptor signaling complex scaffold activity

biological process:
regulation of epidermal growth factor receptor activity

biological process:
signal complex formation

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H011186_01

Name:
Growth factor receptor-bound protein 7
UniGene:
Hs.86859

Gene Symbol:
GRB7

Locus Link:
2886

Chromosome:
17;9
Cytoband:
17q12

Sum Func: SP Function:
interacts with the cytoplasmic domain of the epidermal growth factor receptor which is then inhibited. the interaction is mediated by the sh2 domain. also binds to erbb2. 		Gene Ontology:

molecular function:
SH3/SH2 adaptor protein activity

biological process:
epidermal growth factor receptor signaling pathway

biological process:
intracellular signaling cascade

biological process:
signal transduction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000928_01

Name:
Epiregulin
UniGene:
Hs.115263

Gene Symbol:
EREG

Locus Link:
2069

Chromosome:
4
Cytoband:
4q13.3

Sum Func:
Epiregulin is a member of the epidermal growth factor family. Epiregulin can function as a ligand of EGFR (epidermal growth factor receptor), as well as a ligand of most members of the ERBB (v-erb-b2 oncogene homolog) family of tyrosine-kinase receptors. 		SP Function:
may be a mediator of localized cell proliferation. as a mitogen it may stimulate cell proliferation and/or angiogenesis. 		Gene Ontology:

biological process:
angiogenesis

biological process:
cell proliferation

biological process:
cell-cell signaling

molecular function:
epidermal growth factor receptor binding

biological process:
epidermal growth factor receptor signaling pathway

cellular component:
extracellular space

molecular function:
growth factor activity

cellular component:
integral to plasma membrane

biological process:
regulation of cell cycle

 BioCarta Pathways:

 KEGG Pathways:
Unique id
: H015292_01

Name:
Sorting nexin 6
UniGene:
Hs.356647

Gene Symbol:
SNX6

Locus Link:
58533

Chromosome:
19;14
Cytoband:
14q13.1

Sum Func:
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. 		SP Function: Gene Ontology:

cellular component:
intracellular

biological process:
intracellular protein transport

biological process:
intracellular signaling cascade

molecular function:
intracellular transporter activity

biological process:
negative regulation of epidermal growth factor receptor activity

molecular function:
protein binding

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002110_01

Name:
Coagulation factor II (thrombin) receptor
UniGene:
Hs.482562

Gene Symbol:
F2R

Locus Link:
2149

Chromosome:
5
Cytoband:
5q13

Sum Func:
Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. 		SP Function:
high affinity receptor for activated thrombin coupled to g proteins that stimulate phosphoinositide hydrolysis. may play a role in platelets activation and in vascular development. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

cellular component:
Golgi apparatus

biological process:
STAT protein nuclear translocation

biological process:
apoptosis

biological process:
blood coagulation

biological process:
caspase activation

biological process:
cell motility

cellular component:
integral to plasma membrane

biological process:
morphogenesis

biological process:
positive regulation of I-kappa B kinase/NF-kappaB cascade

molecular function:
receptor binding

biological process:
regulation of cell cycle

biological process:
response to wounding

molecular function:
rhodopsin-like receptor activity

biological process:
signal transduction

molecular function:
thrombin receptor activity

biological process:
tyrosine phosphorylation of STAT protein

 BioCarta Pathways:

1: Acute Myocardial Infarction

2: Extrinsic Prothrombin Activation Pathway

3: Fibrinolysis Pathway

4: Intrinsic Prothrombin Activation Pathway

 KEGG Pathways:
Unique id
: H002167_01

Name:
Chemokine binding protein 2
UniGene:
Hs.185692

Gene Symbol:
CCBP2

Locus Link:
1238

Chromosome:
3
Cytoband:
3p21.3

Sum Func:
This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. 		SP Function:
receptor for c-c type chemokines including scya2/mcp-1, scy3/mip-1-alpha, scya5/rantes and scya7/mcp-3. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
chemotaxis

biological process:
development

biological process:
immune response

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002271_01

Name:
Neuropeptide Y receptor Y2
UniGene:
Hs.37125

Gene Symbol:
NPY2R

Locus Link:
4887

Chromosome:
4
Cytoband:
4q31

Sum Func:

SP Function:
receptor for neuropeptide y and peptide yy. the rank order of affinity of this receptor for pancreatic polypeptides is pyy > npy > pyy (3-36) > npy (2-36) > [ile-31, gln-34] pp > [leu- 31, pro-34] npy > pp, [pro-34] pyy and npy free acid. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
G-protein signaling, adenylate cyclase inhibiting pathway

molecular function:
calcium channel regulator activity

biological process:
circadian rhythm

biological process:
feeding behavior

cellular component:
integral to plasma membrane

biological process:
locomotory behavior

molecular function:
neuropeptide Y receptor activity

molecular function:
receptor activity

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002317_01

Name:
Chemokine (C-X3-C motif) receptor 1
UniGene:
Hs.78913

Gene Symbol:
CX3CR1

Locus Link:
1524

Chromosome:
3
Cytoband:
3p21

Sum Func: SP Function:
receptor for the cx3c chemokine fractalkine and mediates both its adhesive and migratory functions. acts as coreceptor with cd4 for hiv-1 virus envelope protein (in vitro). isoform 2 and isoform 3 seem to be more potent hiv coreceptors than isoform 1. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
cell adhesion

biological process:
cellular defense response

molecular function:
chemokine receptor activity

biological process:
chemotaxis

molecular function:
coreceptor activity

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002332_01

Name:
Bradykinin receptor B2
UniGene:
Hs.525572

Gene Symbol:
BDKRB2

Locus Link:
624

Chromosome:
14
Cytoband:
14q32.1-q32.2

Sum Func:
This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. Alternate start codons result in two isoforms of the protein. 		SP Function:
receptor for bradykinin. it is associated with g proteins that activate a phosphatidylinositol-calcium second messenger system. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
bradykinin receptor activity

biological process:
circulation

biological process:
cytosolic calcium ion concentration elevation

biological process:
inflammatory response

cellular component:
integral to plasma membrane

molecular function:
phosphoinositide phospholipase C activity

molecular function:
rhodopsin-like receptor activity

biological process:
sensory perception

biological process:
smooth muscle contraction

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002366_01

Name:
Chemokine (C-C motif) receptor 9
UniGene:
Hs.225946

Gene Symbol:
CCR9

Locus Link:
10803

Chromosome:
3
Cytoband:
3p21.3

Sum Func:
The protein encoded by this gene is a member of the beta chemokine receptor family. It is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are key regulators of the thymocytes migration and maturation in normal and inflammation conditions. The specific ligand of this receptor is CCL25. It has been found that this gene is differentially expressed by T lymphocytes of small intestine and colon, suggested a role in the thymocytes recruitment and development that may permit functional specialization of immune responses in different segment of the gastrointestinal tract. This gene is mapped to the chemokine receptor gene cluster region. Two alternatively spliced transcript variants have been described. 		SP Function:
receptor for chemokine scya25/teck. subsequently transduces a signal by increasing the intracellular calcium ions level. alternative coreceptor with cd4 for hiv-1 infection. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
cellular defense response

biological process:
chemotaxis

biological process:
cytosolic calcium ion concentration elevation

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

molecular function:
receptor activity

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002377_01

Name:
Tachykinin receptor 1
UniGene:
Hs.200262

Gene Symbol:
TACR1

Locus Link:
6869

Chromosome:
2
Cytoband:
2p12

Sum Func:
This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, also referred to as neurokinin 1. This receptor is also involved in the mediation of phosphatidylinositol metabolism of substance P. 		SP Function:
this is a receptor for the tachykinin neuropeptide substance p. it is probably associated with g proteins that activate a phosphatidylinositol-calcium second messenger system. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
G-protein signaling, coupled to IP3 second messenger (phospholipase C activating)

biological process:
detection of abiotic stimulus

biological process:
inflammatory response

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

biological process:
mechanosensory behavior

cellular component:
plasma membrane

molecular function:
rhodopsin-like receptor activity

molecular function:
tachykinin receptor activity

molecular function:
tachykinin receptor activity

biological process:
tachykinin signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002380_01

Name:
Chemokine (C-C motif) receptor 8
UniGene:
Hs.113222

Gene Symbol:
CCR8

Locus Link:
1237

Chromosome:
3
Cytoband:
3p22

Sum Func:
This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are important for the migration of various cell types into the inflammatory sites. This receptor protein preferentially expresses in the thymus. I-309, thymus activation-regulated cytokine (TARC) and macrophage inflammatory protein-1 beta (MIP-1 beta) have been identified as ligands of this receptor. Studies of this receptor and its ligands suggested its role in regulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this receptor may contribute to the proper positioning of activated T cells within the antigenic challenge sites and specialized areas of lymphoid tissues. This gene is located at the chemokine receptor gene cluster region. 		SP Function:
receptor for the chemokines scya1/i-309, scya4/mip-1- beta and scya17/tarc. may regulate monocyte chemotaxis and thymic cell line apoptosis. alternative coreceptor with cd4 for hiv-1 infection. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
cell adhesion

biological process:
chemotaxis

molecular function:
coreceptor activity

biological process:
cytosolic calcium ion concentration elevation

biological process:
immune response

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002464_01

Name:
Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)
UniGene:
Hs.278446

Gene Symbol:
GPR2

Locus Link:
861>2826; 861

Chromosome:
17;21
Cytoband:
17q21.1-q21.3

Sum Func:
Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CCR10 is the receptor for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 interactions are involved in T cell-mediated skin inflammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM] 		SP Function:
receptor for chemokines scya27 and scya28. subsequently transduces a signal by increasing the intracellular calcium ions level and stimulates chemotaxis in a pre-b cell line. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002476_01

Name:
Chemokine (C-C motif) receptor 5
UniGene:
Hs.511796

Gene Symbol:
CCR5

Locus Link:
1234

Chromosome:
3
Cytoband:
3p21

Sum Func:
This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. 		SP Function:
receptor for a c-c type chemokine. binds to mip-1-alpha, mip-1-beta and rantes and subsequently transduces a signal by increasing the intracellular calcium ions level. may play a role in the control of granulocytic lineage proliferation or differentiation. acts as coreceptor with cd4 for primary non- syncytium-inducing strains (nsi) (macrophage-tropic) of hiv-1 virus. it promotes env-mediated fusion of the virus. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

molecular function:
C-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
cell-cell signaling

biological process:
cellular defense response

biological process:
chemotaxis

molecular function:
coreceptor activity

biological process:
cytosolic calcium ion concentration elevation

cellular component:
endosome

biological process:
inflammatory response

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

molecular function:
phosphoinositide phospholipase C activity

molecular function:
receptor activity

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002487_01

Name:
Complement component 5 receptor 1 (C5a ligand)
UniGene:
Hs.2161

Gene Symbol:
C5R1

Locus Link:
728

Chromosome:
19
Cytoband:
19q13.3-q13.4

Sum Func: SP Function:
receptor for the chemotactic and inflammatory peptide anaphylatoxin c5a. this receptor stimulates chemotaxis, granule enzyme release and superoxide anion production. 		Gene Ontology:

molecular function:
C5a anaphylatoxin receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
activation of MAPK

biological process:
cellular defense response

biological process:
chemotaxis

biological process:
cytosolic calcium ion concentration elevation

cellular component:
integral to plasma membrane

biological process:
phospholipase C activation

molecular function:
rhodopsin-like receptor activity

biological process:
sensory perception of chemical stimulus

biological process:
signal transduction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002585_01

Name:
G protein-coupled receptor 17
UniGene:
Hs.46453

Gene Symbol:
GPR17

Locus Link:
2840

Chromosome:
2
Cytoband:
2q21

Sum Func: SP Function:
putative receptor for purines coupled to g-proteins (by similarity). 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
chemokine receptor activity

cellular component:
integral to plasma membrane

molecular function:
purinergic nucleotide receptor activity, G-protein coupled

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002592_01

Name:
Opioid receptor, mu 1
UniGene:
Hs.2353

Gene Symbol:
OPRM1

Locus Link:
4988

Chromosome:
6
Cytoband:
6q24-q25

Sum Func: SP Function:
inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. receptor for beta-endorphin. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
G-protein signaling, coupled to cyclic nucleotide second messenger

cellular component:
Golgi apparatus

biological process:
behavior

cellular component:
endoplasmic reticulum

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

molecular function:
mu-opioid receptor activity

molecular function:
mu-opioid receptor activity

biological process:
negative regulation of cell proliferation

molecular function:
receptor activity

molecular function:
rhodopsin-like receptor activity

biological process:
sensory perception

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002671_01

Name:
Natriuretic peptide receptor A/guanylate cyclase A (atrial natriuretic peptide receptor A)
UniGene:
Hs.490330

Gene Symbol:
NPR1

Locus Link:
4881

Chromosome:
1
Cytoband:
1q21-q22

Sum Func:
NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM] 		SP Function:
receptor for atrial natriuretic peptide. has guanylate cyclase activity on binding of anf. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cGMP biosynthesis

biological process:
cell surface receptor linked signal transduction

biological process:
diuresis

biological process:
fluid secretion

molecular function:
guanylate cyclase activity

molecular function:
hormone binding

cellular component:
integral to plasma membrane

biological process:
intracellular signaling cascade

molecular function:
lyase activity

biological process:
natriuresis

biological process:
negative regulation of angiogenesis

biological process:
negative regulation of cell growth

molecular function:
peptide receptor activity, G-protein coupled

biological process:
protein amino acid phosphorylation

molecular function:
protein kinase activity

molecular function:
receptor activity

biological process:
regulation of blood pressure

biological process:
regulation of vascular permeability

biological process:
regulation of vasodilation

 BioCarta Pathways:
 KEGG Pathways:

1: Purine Metabolism
Unique id
: H002758_01

Name:
Chemokine-like receptor 1
UniGene:
Hs.506659

Gene Symbol:
CMKLR1

Locus Link:
1240

Chromosome:
12
Cytoband:
12q24.1

Sum Func: SP Function:
orphan receptor. could be a chemotactic peptide receptor. may have a function in bone metabolism. acts as a coreceptor for several siv strains (sivmac316, sivmac239, sivmacl7e-fr and sivsm62a), as well as a primary hiv-1 strain (92ug024-2). 		Gene Ontology:

molecular function:
G-protein coupled receptor activity, unknown ligand

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
chemokine receptor activity

biological process:
chemotaxis

biological process:
immune response

cellular component:
integral to plasma membrane

molecular function:
receptor activity

molecular function:
rhodopsin-like receptor activity

biological process:
skeletal development

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002813_01

Name:
5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)
UniGene:
Hs.73739

Gene Symbol:
HTR7

Locus Link:
3363

Chromosome:
10
Cytoband:
10q21-q24

Sum Func:
The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. 		SP Function:
this is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. the activity of this receptor is mediated by g proteins that stimulate adenylate cyclase. 		Gene Ontology:

biological process:
G-protein signaling, coupled to cyclic nucleotide second messenger

biological process:
circadian rhythm

biological process:
circulation

cellular component:
integral to plasma membrane

molecular function:
melanocortin receptor activity

molecular function:
rhodopsin-like receptor activity

molecular function:
serotonin receptor activity

biological process:
synaptic transmission

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002884_01

Name:
Natriuretic peptide receptor C/guanylate cyclase C (atrial natriuretic peptide receptor C)
UniGene:
Hs.237028

Gene Symbol:
NPR3

Locus Link:
4883

Chromosome:
5
Cytoband:
5p14-p13

Sum Func:
The family of natriuretic peptides (see MIM 108780) elicit a number of vascular, renal, and endocrine effects that are important in the maintenance of blood pressure and extracellular fluid volume. These effects are mediated by specific binding of the peptides to cell surface receptors in the vasculature, kidney, adrenal, and brain.[supplied by OMIM] 		SP Function:
receptor for atrial natriuretic peptide. does not have guanylate cyclase activity. 		Gene Ontology:

cellular component:
integral to membrane

molecular function:
peptide receptor activity, G-protein coupled

molecular function:
receptor activity

biological process:
skeletal development

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002976_01

Name:
Chemokine (C-X-C motif) receptor 3
UniGene:
Hs.198252

Gene Symbol:
CXCR3

Locus Link:
2833

Chromosome:
X
Cytoband:
Xq13

Sum Func:
CD183 is a G protein-coupled receptor with selectivity for three chemokines, termed IP10 (interferon-g-inducible 10 kDa protein), Mig (monokine induced by interferon-g) and I-TAC (interferon-inducible T cell a-chemoattractant). IP10, Mig and I-TAC belong to the structural subfamily of CXC chemokines, in which a single amino acid residue separates the first two of four highly conserved Cys residues. Historically, CD183 is the third CXC chemokine receptor discovered and, therefore, commonly designated as CXCR3. Binding of chemokines to CD183 induces cellular responses that are involved in leukocyte traffic, most notably integrin activation, cytoskeletal changes and chemotactic migration. Inhibition by Bordetella pertussis toxin suggests that heterotrimeric G protein of the Gi-subclass couple to CD183. Signal transduction has not been further analyzed but may include the same enzymes that were identified in the signaling cascade induced by other chemokine receptors. As a consequence of chemokine-induced cellular desensitization (phosphorylation-dependent receptor internalization), cellular responses are typically rapid and short in duration. Cellular responsiveness is restored after dephosphorylation of intracellular receptors and subsequent recycling to the cell surface. A hallmark of CD183 is its prominent expression in in vitro cultured effector/memory T cells, and in T cells present in many types of inflamed tissues. In addition, IP10, Mig and I-TAC are commonly produced by local cells in inflammatory lesion, suggesting that CD183 and its chemokines participate in the recruitment of inflammatory cells. Therefore, CD183 is a target for the development of small molecular weight antagonists, which may be used in the treatment of diverse inflammatory diseases. [PROW] 		SP Function:
receptor for scyb9/mig, scyb10/inp10 and scyb11/itac. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

molecular function:
C-X-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
antimicrobial humoral response (sensu Vertebrata)

biological process:
cell adhesion

biological process:
cell motility

biological process:
chemotaxis

cellular component:
cytoplasm

biological process:
cytosolic calcium ion concentration elevation

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:

1: IL12 and Stat4 Dependent Signaling Pathway in Th1 Development

2: mCalpain and friends in Cell motility

3: Selective expression of chemokine receptors during T-cell polarization

4: NO2-dependent IL 12 Pathway in NK cells

 KEGG Pathways:
Unique id
: H003130_01

Name:
Interleukin 8 receptor, beta
UniGene:
Hs.846

Gene Symbol:
IL8RB

Locus Link:
3579

Chromosome:
2
Cytoband:
2q35

Sum Func:
The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. 		SP Function:
receptor to interleukin-8, which is a powerful neutrophils chemotactic factor. binding of il-8 to the receptor causes activation of neutrophils. this response is mediated via a g-protein that activate a phosphatidylinositol-calcium second messenger system. this receptor binds to il-8 with a high affinity and to gro/mgsa and nap-2 also with a high affinity. 		Gene Ontology:

biological process:
G-protein signaling, coupled to IP3 second messenger (phospholipase C activating)

biological process:
cell motility

biological process:
cell proliferation

biological process:
cellular defense response

biological process:
chemotaxis

cellular component:
cytoplasm

biological process:
inflammatory response

cellular component:
integral to plasma membrane

molecular function:
interleukin-8 receptor activity

molecular function:
rhodopsin-like receptor activity

molecular function:
signal transducer activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003215_01

Name:
Chemokine (C-X-C motif) receptor 6
UniGene:
Hs.34526

Gene Symbol:
CXCR6

Locus Link:
10663

Chromosome:
3
Cytoband:
3p21

Sum Func: SP Function:
receptor for the c-x-c chemokine cxcl16. used as a coreceptor by sivs and by strains of hiv-2 and m-tropic hiv-1. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

molecular function:
C-X-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
coreceptor activity

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

biological process:
viral genome replication

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003343_01

Name:
Galanin receptor 1
UniGene:
Hs.272191

Gene Symbol:
GALR1

Locus Link:
2587

Chromosome:
18
Cytoband:
18q23

Sum Func:
The neuropeptide galanin elicits a range of biological effects by interaction with specific G-protein-coupled receptors. Galanin receptors are seven-transmembrane proteins shown to activate a variety of intracellular second-messenger pathways. GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family. GALR1 is widely expressed in the brain and spinal cord, as well as in peripheral sites such as the small intestine and heart. 		SP Function:
receptor for the hormone galanin. the activity of this receptor is mediated by g proteins that inhibit adenylate cyclase activity. 		Gene Ontology:

biological process:
digestion

molecular function:
galanin receptor activity

cellular component:
integral to membrane

biological process:
ion transport

biological process:
negative regulation of adenylate cyclase activity

biological process:
neuropeptide signaling pathway

cellular component:
plasma membrane

molecular function:
rhodopsin-like receptor activity

biological process:
synaptic transmission

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003424_01

Name:
Chemokine (C-C motif) receptor 3
UniGene:
Hs.506190

Gene Symbol:
CCR3

Locus Link:
1232

Chromosome:
3
Cytoband:
3p21.3

Sum Func:
The protein encoded by this gene is a receptor for C-C type chemokines. It belongs to family 1 of the G protein-coupled receptors. This receptor binds and responds to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed in eosinophils and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial cells. This receptor may contribute to the accumulation and activation of eosinophils and other inflammatory cells in the allergic airway. It is also known to be an entry co-receptor for HIV-1. This gene and seven other chemokine receptor genes form a chemokine receptor gene cluster on the chromosomal region 3p21. Alternatively spliced transcript variants encoding the same protein have been described. 		SP Function:
receptor for a c-c type chemokine. binds to eotaxin, eotaxin-3, mcp-3, mcp-4, rantes and mip-1 delta. subsequently transduces a signal by increasing the intracellular calcium ions level. alternative coreceptor with cd4 for hiv-1 infection. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
G-protein signaling, coupled to cAMP nucleotide second messenger

biological process:
cell adhesion

biological process:
cellular defense response

biological process:
chemotaxis

biological process:
cytosolic calcium ion concentration elevation

biological process:
inflammatory response

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:

1: CCR3 signaling in Eosinophils

2: The Role of Eosinophils in the Chemokine Network of Allergy

3: IL 5 Signaling Pathway

4: Selective expression of chemokine receptors during T-cell polarization

 KEGG Pathways:
Unique id
: H003535_01

Name:
Galanin receptor 3
UniGene:
Hs.158353

Gene Symbol:
GALR3

Locus Link:
8484

Chromosome:
22
Cytoband:
22q13.1

Sum Func:
The neuropeptide galanin modulates a variety of physiologic processes including cognition/memory, sensory/pain processing, hormone secretion, and feeding behavior. The human galanin receptors are G protein-coupled receptors that functionally couple to their intracellular effector through distinct signaling pathways. GALR3 is found in many tissues and may be expressed as 1.4-, 2.4-, and 5-kb transcripts 		SP Function:
receptor for the hormone galanin. 		Gene Ontology:

biological process:
feeding behavior

molecular function:
galanin receptor activity

cellular component:
integral to membrane

biological process:
learning and/or memory

biological process:
negative regulation of adenylate cyclase activity

biological process:
neuropeptide signaling pathway

cellular component:
plasma membrane

molecular function:
rhodopsin-like receptor activity

biological process:
synaptic transmission

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003654_01

Name:
Coagulation factor II (thrombin) receptor-like 2
UniGene:
Hs.42502

Gene Symbol:
F2RL2

Locus Link:
2151

Chromosome:
5
Cytoband:
5q13

Sum Func:
Coagulation factor II (thrombin) receptor-like 2 (F2RL2) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL2 is also a member of the protease-activated receptor family and activated by thrombin. F2RL2 is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. F2RL2 is a cofactor for F2RL3 activation by thrombin. It mediates thrombin-triggered phosphoinositide hydrolysis and is expressed in a variety of tissues. 		SP Function:
receptor for activated thrombin coupled to g proteins that stimulate phosphoinositide hydrolysis. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
blood coagulation

cellular component:
integral to plasma membrane

molecular function:
phosphoinositide phospholipase C activity

biological process:
response to wounding

molecular function:
rhodopsin-like receptor activity

molecular function:
thrombin receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003745_01

Name:
Neuropeptide Y receptor Y1
UniGene:
Hs.519057

Gene Symbol:
NPY1R

Locus Link:
4886

Chromosome:
4
Cytoband:
4q31.3-q32

Sum Func: SP Function:
receptor for neuropeptide y and peptide yy. the rank order of affinity of this receptor for pancreatic polypeptides is npy > [pro-34] pyy, pyy and [leu-31, pro-34] npy > npy (2-36) > [ile-31, gln-34] pp and pyy (3-36) > pp > npy free acid. 		Gene Ontology:

biological process:
G-protein signaling, adenylate cyclase inhibiting pathway

biological process:
G-protein signaling, coupled to cyclic nucleotide second messenger

biological process:
feeding behavior

cellular component:
integral to plasma membrane

molecular function:
neuropeptide Y receptor activity

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003791_01

Name:
Chemokine (C-C motif) ligand 13
UniGene:
Hs.414629

Gene Symbol:
CCL13

Locus Link:
6357

Chromosome:
17
Cytoband:
17q11.2

Sum Func:
This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during atherosclerosis. 		SP Function:
chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. signals through ccr2b and ccr3 receptors. plays a role in the accumulation of leukocytes at both sides of allergic and nonallergic inflammation. may be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis. may play a role in the monocyte attraction in tissues chronically exposed to exogenous pathogens. 		Gene Ontology:

biological process:
calcium ion homeostasis

biological process:
cell-cell signaling

molecular function:
chemokine activity

molecular function:
chemokine receptor activity

biological process:
chemotaxis

cellular component:
extracellular space

biological process:
immune response

biological process:
inflammatory response

cellular component:
membrane

biological process:
signal transduction

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003854_01

Name:
Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)
UniGene:
Hs.113916

Gene Symbol:
BLR1

Locus Link:
643

Chromosome:
11
Cytoband:
11q23.3

Sum Func:
This gene was identified as a gene specifically expressed in Burkitt's lymphoma and lymphatic tissues. The protein encoded by this gene is predicted to be a seven transmembrane G protein- coupled receptor and belongs to the CXC chemokine receptor family. BLC, a B-lymphocyte chemoattractant, was identified to be a specific ligand for this receptor. Studies of this gene and its mouse counterpart strongly suggest the essential function of this gene in B cell migration and localization within specific anatomic compartments, such as follicles in lymph nodes as well as in spleen. Two alternatively spliced variants of this gene exist. 		SP Function:
cytokine receptor that binds to blc. blr1 exerts possibly a regulatory function in burkitt lymphoma (bl) lymphomagenesis and/or b-cell differentiation. it is a potential candidate for cell-cell interaction, and activation of mature b- lymphocytes in lymphatic tissues. 		Gene Ontology:

biological process:
B-cell activation

molecular function:
C-X-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
angiotensin type II receptor activity

biological process:
cell motility

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H003899_01

Name:
Chemokine (C-C motif) receptor 1
UniGene:
Hs.301921

Gene Symbol:
CCR1

Locus Link:
1230

Chromosome:
3
Cytoband:
3p21

Sum Func:
This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. 		SP Function:
receptor for a c-c type chemokine. binds to mip-1-alpha, mip-1-delta, rantes, and mcp-3 and, less efficiently, to mip-1- beta or mcp-1 and subsequently transduces a signal by increasing the intracellular calcium ions level. responsible for affecting stem cell proliferation. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

biological process:
G-protein signaling, coupled to cyclic nucleotide second messenger

biological process:
cell adhesion

biological process:
cell-cell signaling

biological process:
chemotaxis

biological process:
cytosolic calcium ion concentration elevation

biological process:
immune response

biological process:
inflammatory response

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:

1: Selective expression of chemokine receptors during T-cell polarization

 KEGG Pathways:
Unique id
: H004053_01

Name:
Neuromedin U receptor 1
UniGene:
Hs.471619

Gene Symbol:
NMUR1

Locus Link:
10316

Chromosome:
2
Cytoband:
2q37.1

Sum Func: SP Function: Gene Ontology:

biological process:
calcium ion transport

biological process:
calcium-mediated signaling

biological process:
chloride transport

biological process:
inositol phosphate-mediated signaling

cellular component:
integral to membrane

cellular component:
membrane fraction

molecular function:
neuromedin U receptor activity

biological process:
neuropeptide signaling pathway

biological process:
phospholipase C activation

molecular function:
receptor activity

molecular function:
rhodopsin-like receptor activity

biological process:
secretory pathway

biological process:
smooth muscle contraction

biological process:
transmission of nerve impulse

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006487_01

Name:
Neuropeptide Y receptor Y6 (pseudogene)
UniGene:
Hs.529445

Gene Symbol:
NPY6R

Locus Link:
4888

Chromosome:
5
Cytoband:
5q31

Sum Func: SP Function: Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

cellular component:
integral to plasma membrane

molecular function:
neuropeptide Y receptor activity

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H006918_01

Name:
G protein-coupled receptor 74
UniGene:
Hs.99231

Gene Symbol:
GPR74

Locus Link:
10886

Chromosome:
4
Cytoband:
4q21

Sum Func: SP Function:
receptor for npaf (a-18-f-amide) and npff (f-8-f-amide) neuropeptides, also known as morphine-modulating peptides. can also be activated by a variety of naturally occurring or synthetic fmrf-amide like ligands. this receptor mediates its action by association with g proteins that activate a phosphatidylinositol- calcium second messenger system. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
cell growth and/or maintenance

biological process:
detection of abiotic stimulus

cellular component:
integral to plasma membrane

molecular function:
neuropeptide receptor activity

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H007494_01

Name:
Sortilin 1
UniGene:
Hs.485195

Gene Symbol:
SORT1

Locus Link:
6272

Chromosome:
1
Cytoband:
1p21.3-p13.1

Sum Func:
This gene encodes a protein that is a multi-ligand type-1 receptor with similarity to the yeast carboxypeptidase Y sorting receptor Vps10 protein. The encoded protein, a trans-Golgi network (TGN) transmembrane protein, binds a number of unrelated ligands that participate in a wide range of cellular processes; however, it lacks the typical features of a signaling receptor. In the TGN, furin mediates the activation of the mature binding form. The encoded protein consists of a large luminal domain, a single transmembrane segment and short C-terminal cytoplasmic tail. The luminal domain contains a cysteine-rich region similar to two corresponding segments in the yeast Vps10p; the cytoplasmic tail is similar to the corresponding segment of the cation-independent mannose 6-phosphate receptor and the tail also interacts with the VHS domains of GGA (Golgi-associated, gamma-adaptin homologous, ARF-interacting) proteins. 		SP Function:
binds the receptor-associated protein (rap). may be involved in endosomal protein sorting. acts as a receptor for neurotensin. 		Gene Ontology:

biological process:
endocytosis

cellular component:
endosome

cellular component:
integral to membrane

biological process:
intracellular protein transport

cellular component:
membrane

molecular function:
neurotensin receptor activity, G-protein coupled

molecular function:
protein transporter activity

molecular function:
receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H000696_01

Name:
Natriuretic peptide receptor B/guanylate cyclase B (atrial natriuretic peptide receptor B)
UniGene:
Hs.78518

Gene Symbol:
NPR2

Locus Link:
4882

Chromosome:
9
Cytoband:
9p21-p12

Sum Func:
NPR2 encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain), an helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. NPR2 is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. 		SP Function:
receptor for atrial natriuretic peptide. has guanylate cyclase activity on binding of anf. seems to be stimulated more effectively by brain natriuretic peptide (bnp) than by anp. 		Gene Ontology:

molecular function:
ATP binding

biological process:
cGMP biosynthesis

biological process:
cell surface receptor linked signal transduction

molecular function:
guanylate cyclase activity

cellular component:
integral to membrane

biological process:
intracellular signaling cascade

molecular function:
lyase activity

molecular function:
peptide receptor activity, G-protein coupled

cellular component:
plasma membrane

biological process:
protein amino acid phosphorylation

molecular function:
protein kinase activity

biological process:
regulation of blood pressure

molecular function:
transmembrane receptor activity

 BioCarta Pathways:
 KEGG Pathways:

1: Purine Metabolism
Unique id
: H010325_01

Name:
Chemokine (C-C motif) receptor-like 2
UniGene:
Hs.458436

Gene Symbol:
CCRL2

Locus Link:
9034

Chromosome:
3
Cytoband:
3p21

Sum Func:
This gene encodes a chemokine receptor like protein, which is predicted to be a seven transmembrane protein and most closely related to CCR1. Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. This gene is expressed at high levels in primary neutrophils and primary monocytes, and is further upregulated on neutrophil activation and during monocyte to macrophage differentiation. The function of this gene is unknown. This gene is mapped to the region where the chemokine receptor gene cluster is located. 		SP Function: Gene Ontology:

molecular function:
C-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

cellular component:
integral to membrane

molecular function:
receptor activity

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H014597_01

Name:
Urotensin 2 receptor
UniGene:
Hs.192720

Gene Symbol:
UTS2R

Locus Link:
2837

Chromosome:
17
Cytoband:
17q25.3

Sum Func: SP Function: Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
circulation

cellular component:
integral to membrane

molecular function:
rhodopsin-like receptor activity

biological process:
signal transduction

molecular function:
urotensin II receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H015053_01

Name:
Neuromedin U receptor 2
UniGene:
Hs.283093

Gene Symbol:
NMUR2

Locus Link:
56923

Chromosome:
5
Cytoband:
5q33.1

Sum Func: SP Function: Gene Ontology:

molecular function:
GTP binding

biological process:
arachidonic acid secretion

biological process:
calcium ion transport

biological process:
calcium-dependent phospholipase A2 activation

biological process:
central nervous system development

biological process:
cytosolic calcium ion concentration elevation

biological process:
inositol phosphate-mediated signaling

cellular component:
integral to membrane

molecular function:
intracellular calcium activated chloride channel activity

molecular function:
neuromedin U receptor activity

molecular function:
receptor activity

biological process:
regulation of smooth muscle contraction

molecular function:
rhodopsin-like receptor activity

biological process:
secretory pathway

biological process:
transmission of nerve impulse

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H015702_01

Name:
G protein-coupled receptor 44
UniGene:
Hs.299567

Gene Symbol:
GPR44

Locus Link:
11251

Chromosome:
11
Cytoband:
11q12-q13.3

Sum Func:
G protein-coupled receptors (GPCRs), such as GPR44, are integral membrane proteins containing 7 putative transmembrane domains (TMs). These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response.[supplied by OMIM] 		SP Function:
orphan receptor. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
N-formyl peptide receptor activity

biological process:
immune response

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H015755_01

Name:
Chemokine (C-C motif) receptor 1
UniGene:
Hs.301921

Gene Symbol:
CCR1

Locus Link:
1230

Chromosome:
3
Cytoband:
3p21

Sum Func:
This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. 		SP Function:
receptor for a c-c type chemokine. binds to mip-1-alpha, mip-1-delta, rantes, and mcp-3 and, less efficiently, to mip-1- beta or mcp-1 and subsequently transduces a signal by increasing the intracellular calcium ions level. responsible for affecting stem cell proliferation. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

biological process:
G-protein signaling, coupled to cyclic nucleotide second messenger

biological process:
cell adhesion

biological process:
cell-cell signaling

biological process:
chemotaxis

biological process:
cytosolic calcium ion concentration elevation

biological process:
immune response

biological process:
inflammatory response

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:

1: Selective expression of chemokine receptors during T-cell polarization

 KEGG Pathways:
Unique id
: H015778_01

Name:
G protein-coupled receptor 147
UniGene:
Hs.302026

Gene Symbol:
GPR147

Locus Link:
64106

Chromosome:
10
Cytoband:
10q21-q22

Sum Func: SP Function: Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

cellular component:
integral to membrane

molecular function:
neuropeptide receptor activity

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002110_01

Name:
Coagulation factor II (thrombin) receptor
UniGene:
Hs.482562

Gene Symbol:
F2R

Locus Link:
2149

Chromosome:
5
Cytoband:
5q13

Sum Func:
Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. 		SP Function:
high affinity receptor for activated thrombin coupled to g proteins that stimulate phosphoinositide hydrolysis. may play a role in platelets activation and in vascular development. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

cellular component:
Golgi apparatus

biological process:
STAT protein nuclear translocation

biological process:
apoptosis

biological process:
blood coagulation

biological process:
caspase activation

biological process:
cell motility

cellular component:
integral to plasma membrane

biological process:
morphogenesis

biological process:
positive regulation of I-kappa B kinase/NF-kappaB cascade

molecular function:
receptor binding

biological process:
regulation of cell cycle

biological process:
response to wounding

molecular function:
rhodopsin-like receptor activity

biological process:
signal transduction

molecular function:
thrombin receptor activity

biological process:
tyrosine phosphorylation of STAT protein

 BioCarta Pathways:

1: Acute Myocardial Infarction

2: Extrinsic Prothrombin Activation Pathway

3: Fibrinolysis Pathway

4: Intrinsic Prothrombin Activation Pathway

 KEGG Pathways:
Unique id
: H002167_01

Name:
Chemokine binding protein 2
UniGene:
Hs.185692

Gene Symbol:
CCBP2

Locus Link:
1238

Chromosome:
3
Cytoband:
3p21.3

Sum Func:
This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. 		SP Function:
receptor for c-c type chemokines including scya2/mcp-1, scy3/mip-1-alpha, scya5/rantes and scya7/mcp-3. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
chemotaxis

biological process:
development

biological process:
immune response

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002271_01

Name:
Neuropeptide Y receptor Y2
UniGene:
Hs.37125

Gene Symbol:
NPY2R

Locus Link:
4887

Chromosome:
4
Cytoband:
4q31

Sum Func: SP Function:
receptor for neuropeptide y and peptide yy. the rank order of affinity of this receptor for pancreatic polypeptides is pyy > npy > pyy (3-36) > npy (2-36) > [ile-31, gln-34] pp > [leu- 31, pro-34] npy > pp, [pro-34] pyy and npy free acid. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
G-protein signaling, adenylate cyclase inhibiting pathway

molecular function:
calcium channel regulator activity

biological process:
circadian rhythm

biological process:
feeding behavior

cellular component:
integral to plasma membrane

biological process:
locomotory behavior

molecular function:
neuropeptide Y receptor activity

molecular function:
receptor activity

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002317_01

Name:
Chemokine (C-X3-C motif) receptor 1
UniGene:
Hs.78913

Gene Symbol:
CX3CR1

Locus Link:
1524

Chromosome:
3
Cytoband:
3p21

Sum Func: SP Function:
receptor for the cx3c chemokine fractalkine and mediates both its adhesive and migratory functions. acts as coreceptor with cd4 for hiv-1 virus envelope protein (in vitro). isoform 2 and isoform 3 seem to be more potent hiv coreceptors than isoform 1. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
cell adhesion

biological process:
cellular defense response

molecular function:
chemokine receptor activity

biological process:
chemotaxis

molecular function:
coreceptor activity

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002332_01

Name:
Bradykinin receptor B2
UniGene:
Hs.525572

Gene Symbol:
BDKRB2

Locus Link:
624

Chromosome:
14
Cytoband:
14q32.1-q32.2

Sum Func:
This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. Alternate start codons result in two isoforms of the protein. 		SP Function:
receptor for bradykinin. it is associated with g proteins that activate a phosphatidylinositol-calcium second messenger system. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

molecular function:
bradykinin receptor activity

biological process:
circulation

biological process:
cytosolic calcium ion concentration elevation

biological process:
inflammatory response

cellular component:
integral to plasma membrane

molecular function:
phosphoinositide phospholipase C activity

molecular function:
rhodopsin-like receptor activity

biological process:
sensory perception

biological process:
smooth muscle contraction

biological process:
transmembrane receptor protein tyrosine kinase signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002366_01

Name:
Chemokine (C-C motif) receptor 9
UniGene:
Hs.225946

Gene Symbol:
CCR9

Locus Link:
10803

Chromosome:
3
Cytoband:
3p21.3

Sum Func:
The protein encoded by this gene is a member of the beta chemokine receptor family. It is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are key regulators of the thymocytes migration and maturation in normal and inflammation conditions. The specific ligand of this receptor is CCL25. It has been found that this gene is differentially expressed by T lymphocytes of small intestine and colon, suggested a role in the thymocytes recruitment and development that may permit functional specialization of immune responses in different segment of the gastrointestinal tract. This gene is mapped to the chemokine receptor gene cluster region. Two alternatively spliced transcript variants have been described. 		SP Function:
receptor for chemokine scya25/teck. subsequently transduces a signal by increasing the intracellular calcium ions level. alternative coreceptor with cd4 for hiv-1 infection. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
cellular defense response

biological process:
chemotaxis

biological process:
cytosolic calcium ion concentration elevation

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

molecular function:
receptor activity

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002377_01

Name:
Tachykinin receptor 1
UniGene:
Hs.200262

Gene Symbol:
TACR1

Locus Link:
6869

Chromosome:
2
Cytoband:
2p12

Sum Func:
This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, also referred to as neurokinin 1. This receptor is also involved in the mediation of phosphatidylinositol metabolism of substance P. 		SP Function:
this is a receptor for the tachykinin neuropeptide substance p. it is probably associated with g proteins that activate a phosphatidylinositol-calcium second messenger system. 		Gene Ontology:

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
G-protein signaling, coupled to IP3 second messenger (phospholipase C activating)

biological process:
detection of abiotic stimulus

biological process:
inflammatory response

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

biological process:
mechanosensory behavior

cellular component:
plasma membrane

molecular function:
rhodopsin-like receptor activity

molecular function:
tachykinin receptor activity

molecular function:
tachykinin receptor activity

biological process:
tachykinin signaling pathway

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002380_01

Name:
Chemokine (C-C motif) receptor 8
UniGene:
Hs.113222

Gene Symbol:
CCR8

Locus Link:
1237

Chromosome:
3
Cytoband:
3p22

Sum Func:
This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are important for the migration of various cell types into the inflammatory sites. This receptor protein preferentially expresses in the thymus. I-309, thymus activation-regulated cytokine (TARC) and macrophage inflammatory protein-1 beta (MIP-1 beta) have been identified as ligands of this receptor. Studies of this receptor and its ligands suggested its role in regulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this receptor may contribute to the proper positioning of activated T cells within the antigenic challenge sites and specialized areas of lymphoid tissues. This gene is located at the chemokine receptor gene cluster region. 		SP Function:
receptor for the chemokines scya1/i-309, scya4/mip-1- beta and scya17/tarc. may regulate monocyte chemotaxis and thymic cell line apoptosis. alternative coreceptor with cd4 for hiv-1 infection. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
cell adhesion

biological process:
chemotaxis

molecular function:
coreceptor activity

biological process:
cytosolic calcium ion concentration elevation

biological process:
immune response

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002464_01

Name:
Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)
UniGene:
Hs.278446

Gene Symbol:
GPR2

Locus Link:
861>2826; 861

Chromosome:
17;21
Cytoband:
17q21.1-q21.3

Sum Func:
Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CCR10 is the receptor for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 interactions are involved in T cell-mediated skin inflammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM] 		SP Function:
receptor for chemokines scya27 and scya28. subsequently transduces a signal by increasing the intracellular calcium ions level and stimulates chemotaxis in a pre-b cell line. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

cellular component:
integral to plasma membrane

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:
Unique id
: H002476_01

Name:
Chemokine (C-C motif) receptor 5
UniGene:
Hs.511796

Gene Symbol:
CCR5

Locus Link:
1234

Chromosome:
3
Cytoband:
3p21

Sum Func:
This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. 		SP Function:
receptor for a c-c type chemokine. binds to mip-1-alpha, mip-1-beta and rantes and subsequently transduces a signal by increasing the intracellular calcium ions level. may play a role in the control of granulocytic lineage proliferation or differentiation. acts as coreceptor with cd4 for primary non- syncytium-inducing strains (nsi) (macrophage-tropic) of hiv-1 virus. it promotes env-mediated fusion of the virus. 		Gene Ontology:

molecular function:
C-C chemokine receptor activity

molecular function:
C-C chemokine receptor activity

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
G-protein coupled receptor protein signaling pathway

biological process:
cell-cell signaling

biological process:
cellular defense response

biological process:
chemotaxis

molecular function:
coreceptor activity

biological process:
cytosolic calcium ion concentration elevation

cellular component:
endosome

biological process:
inflammatory response

cellular component:
integral to membrane

cellular component:
integral to plasma membrane

molecular function:
phosphoinositide phospholipase C activity

molecular function:
receptor activity

molecular function:
rhodopsin-like receptor activity

 BioCarta Pathways:
 KEGG Pathways:

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