Annotations – Comparative Gene Ontology (GO) Analysis
| Gene Info | Sum Func | Function | Gene Ontology | Biocarta Pathways | Kegg Pathways |
|---|---|---|---|---|---|
| Unique id : H001590_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: cellular component: cellular component: biological process: cellular component: molecular function: cellular component: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: The role of FYVE-finger proteins in vesicle transport 2: Phosphoinositides and their downstream targets. |
KEGG Pathways: |
| Unique id : H000019_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. |
Gene Ontology:
molecular function: molecular function: molecular function: cellular component: cellular component: cellular component: cellular component: molecular function: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: Synaptic Proteins at the Synaptic Junction 3: Induction of apoptosis through DR3 and DR4/5 Death Receptors 4: FAS signaling pathway ( CD95 ) 5: TNFR1 Signaling Pathway 6: uCalpain and friends in Cell spread |
KEGG Pathways: |
| Unique id : H001694_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: has a higher affinity for cgmp than for camp. |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001718_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro. ITPKA and ITPKB are 68% identical in the C-terminus region. |
SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001748_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. |
SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001765_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: molecular function: biological process: cellular component: |
BioCarta Pathways:
1: Effects of calcineurin in Keratinocyte Differentiation |
KEGG Pathways: |
| Unique id : H001979_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: calcium-dependent, calmodulin-stimulated protein phosphatase. this subunit may have a role in the calmodulin activation of calcineurin. |
Gene Ontology:
cellular component: molecular function: molecular function: molecular function: molecular function: biological process: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000256_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: binds to activated cdc42 and rac1 but does not seem to stimulate their gtpase activity. associates with calmodulin. |
Gene Ontology:
molecular function: molecular function: molecular function: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002231_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002427_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. |
SP Function: calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade involved in a number of cellular processes like transcriptional regulation, hormone production, translational regulation, regulation of actin filament organization and neurite outgrowth. involved in calcium- dependent activation of the erk pathway (by similarity). recognizes the substrate consensus sequence [mvlif]-x-r-x(2)-[st]- x(3)-[mvlif]. phosphorylates eif4g3/eif4gii. in vitro phosphorylates creb1, atf1, ctfr, myl9, syn1/synapsin i and synii/synapsin ii (by similarity). |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling 2: Ca++/ Calmodulin-dependent Protein Kinase Activation 3: Pertussis toxin-insensitive CCR5 Signaling in Macrophage 4: Signal Dependent Regulation of Myogenesis by Corepressor MITR 5: BCR Signaling Pathway 6: Bioactive Peptide Induced Signaling Pathway 7: Effects of calcineurin in Keratinocyte Differentiation 8: fMLP induced chemokine gene expression in HMC-1 cells 9: Fc Epsilon Receptor I Signaling in Mast Cells 10: Corticosteroids and cardioprotection 11: Signaling Pathway from G-Protein Families 12: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) 13: Role of MEF2D in T-cell Apoptosis 14: Endocytotic role of NDK, Phosphins and Dynamin 15: NFAT and Hypertrophy of the heart (Transcription in the broken heart) 16: Actions of Nitric Oxide in the Heart 17: Nitric Oxide Signaling Pathway 18: Regulation of PGC-1a 19: Links between Pyk2 and Map Kinases 20: T Cell Receptor Signaling Pathway 21: Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells |
KEGG Pathways: |
| Unique id : H002458_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: has a preference for cgmp as a substrate. |
Gene Ontology:
biological process: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002540_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM] |
SP Function: rapidly transports ca(2+) during excitation-contraction coupling. ca(2+) is extruded from the cell during relaxation so as to prevent overloading of intracellular stores. |
Gene Ontology:
molecular function: biological process: molecular function: molecular function: molecular function: biological process: cellular component: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002636_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a putative RNA binding protein of unknown function. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in two products. |
SP Function: might normally function as a repressor. ews-fusion- proteins (efps) may play a role in the tumorigenic process. they may disturb gene expression by mimicking, or interfering with the normal function of ctd-polii within the transcription initiation complex. they may also contribute to an aberrant activation of the fusion protein target genes. |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003578_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Calmodulin-dependent protein phosphatase, calcineurin, is involved in a wide range of biologic activities, acting as a Ca(2+)-dependent modifier of phosphorylation status. In testis, the motility of the sperm is thought to be controlled by cAMP-dependent phosphorylation and a unique form of calcineurin appears to be associated with the flagellum. The calcineurin holoenzyme is composed of catalytic and regulatory subunits of 60 and 18 kD, respectively. At least 3 genes, calcineurin A-alpha (CALNA1; MIM 114105), calcineurin A-beta (CALNA2; MIM 114106), and calcineurin A-gamma (CALNA3), have been cloned for the catalytic subunit. These genes have been identified in humans, mice, and rats, and are highly conserved between species (90 to 95% amino acid identity).[supplied by OMIM] |
SP Function: calcium-dependent, calmodulin-stimulated protein phosphatase. this subunit may have a role in the calmodulin activation of calcineurin. |
Gene Ontology:
cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003869_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: cellular component: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004258_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regulation of protein synthesis. It phosphorylates eukaryotic elongation factor 2 (EEF2) and thus inhibits the EEF2 function. The activity of this kinase is increased in many cancers and may be a valid target for anti-cancer treatment. |
SP Function: phosphorylates eukaryotic elongation factor-2. binds calmodulin (by similarity). |
Gene Ontology:
molecular function: molecular function: cellular component: biological process: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004424_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. |
SP Function: | Gene Ontology:
molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004696_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Seven transcript variants encoding six distinct isoforms have been identified for this gene. Additional splice variants have been described but their full-length nature has not been determined. The identified isoforms exhibit a distinct ability to undergo autophosphorylation and to phosphorylate the downstream kinases. |
SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: molecular function: molecular function: molecular function: molecular function: biological process: biological process: molecular function: molecular function: cellular component: cellular component: biological process: biological process: biological process: molecular function: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Ca++/ Calmodulin-dependent Protein Kinase Activation |
KEGG Pathways: |
| Unique id : H005041_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene belongs to the ‘regulator of G protein signaling’ family. It inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits. It also may play a role in regulating the kinetics of signaling in the phototransduction cascade. |
SP Function: inhibits signal transduction by increasing the gtpase activity of g protein alpha subunits thereby driving them into their inactive gdp-bound form. binds to g(i)-alpha and g(o)-alpha, but not to g(s)-alpha. may play a role in regulating the kinetics of signaling in the phototransduction cascade. |
Gene Ontology:
molecular function: molecular function: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005657_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Six alternatively spliced variants that encode six different isoforms have been characterized to date. Additional alternative splice variants that encode different isoforms have been described, but their full-length nature has not been determined. |
SP Function: cam-kinase ii (camk2) is a prominent kinase in the central nervous system that may function in long-term potentiation and neurotransmitter release. |
Gene Ontology:
molecular function: molecular function: molecular function: molecular function: molecular function: cellular component: biological process: molecular function: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Ca++/ Calmodulin-dependent Protein Kinase Activation 2: Bioactive Peptide Induced Signaling Pathway 3: Transcription factor CREB and its extracellular signals 4: Regulation of PGC-1a 5: Stathmin and breast cancer resistance to antimicrotubule agents |
KEGG Pathways: |
| Unique id : H000534_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. |
SP Function: could be a regulatory protein, possibly participating in receptor-mediated signal transduction at the plasma membrane. has guanine nucleotide-binding activity but undetectable intrinsic gtpase activity. |
Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000584_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 4 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. Regulator of G protein signaling 4 protein is 37% identical to RGS1 and 97% identical to rat Rgs4. This protein negatively regulate signaling upstream or at the level of the heterotrimeric G protein and is localized in the cytoplasm. |
SP Function: inhibits signal transduction by increasing the gtpase activity of g protein alpha subunits thereby driving them into their inactive gdp-bound form. activity on g(z)-alpha is inhibited by phosphorylation of the g-protein. activity on g(z)-alpha and g(i)-alpha-1 is inhibited by palmitoylation of the g-protein. |
Gene Ontology:
molecular function: molecular function: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006644_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006762_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: molecular function: molecular function: biological process: cellular component: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000623_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. |
SP Function: | Gene Ontology:
molecular function: cellular component: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000624_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007445_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: motor protein that may participate in process critical to neuronal development and function such as cell migration, neurite outgrowth and vesicular transport (by similarity). |
Gene Ontology:
molecular function: molecular function: molecular function: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007631_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. |
SP Function: forms a voltage-independent potassium channel that is activated by intracellular calcium. activation is followed by membrane hyperpolarization which promotes calcium influx. the channel is blocked by clotrimazole and charybdotoxin but is insensitive to apamin. |
Gene Ontology:
molecular function: biological process: cellular component: molecular function: biological process: cellular component: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007704_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: myosins are actin-based motor molecules with atpase activity. unconventional myosins serve in intracellular movements. their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (by similarity). |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: molecular function: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007741_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. |
SP Function: adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. may link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. plays an important role in synapse formation and in the organization of utrn and acetylcholine receptors at the neuromuscular synapse. binds to phosphatidylinositol 4,5-biphosphate (by similarity). |
Gene Ontology:
molecular function: molecular function: molecular function: cellular component: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007774_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. |
SP Function: adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. may link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. |
Gene Ontology:
molecular function: molecular function: molecular function: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007888_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. |
SP Function: muscle contraction. |
Gene Ontology:
molecular function: molecular function: molecular function: molecular function: biological process: cellular component: cellular component: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000679_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: biological process: biological process: biological process: biological process: molecular function: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000682_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: molecular function: biological process: biological process: molecular function: molecular function: cellular component: cellular component: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000784_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). Adducin is a heterodimeric protein that consists of related subunits, which are produced from distinct genes but share a similar structure. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. Alternative splicing results in multiple variants encoding distinct isoforms; however, not all variants have been fully described. |
SP Function: membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. binds to calmodulin. |
Gene Ontology:
molecular function: cellular component: molecular function: molecular function: cellular component: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Synaptic Proteins at the Synaptic Junction |
KEGG Pathways: |
| Unique id : H009727_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Two transcript variants encoding different isoforms have been found for this gene. |
SP Function: thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. it is capable of binding to actin, calmodulin, troponin c and tropomyosin. the interaction of calponin with actin inhibits the actomyosin mg-atpase activity. |
Gene Ontology:
molecular function: molecular function: molecular function: cellular component: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010077_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. |
SP Function: forms a voltage-independent potassium channel activated by intracellular calcium. activation is followed by membrane hyperpolarization. thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. the channel is blocked by apamin. |
Gene Ontology:
molecular function: cellular component: molecular function: biological process: cellular component: biological process: molecular function: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000823_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: may be involved in coupling the protein kinase c and calmodulin signal transduction systems. |
Gene Ontology:
molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010496_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. |
Gene Ontology:
molecular function: molecular function: molecular function: cellular component: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011097_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. |
SP Function: this magnesium-dependent enzyme catalyzes the hydrolysis of atp coupled with the transport of calcium out of the cell. |
Gene Ontology:
molecular function: molecular function: biological process: molecular function: molecular function: biological process: molecular function: molecular function: cellular component: molecular function: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011711_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: binds calmodulin in a calcium dependent manner. may function as scaffolding or signaling protein. |
Gene Ontology:
molecular function: biological process: cellular component: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012897_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: biological process: cellular component: cellular component: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012917_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Eight transcript variants encoding eight distinct isoforms have been identified for this gene. |
SP Function: cam-kinase ii (camk2) is a prominent kinase in the central nervous system that may function in long-term potentiation and neurotransmitter release. |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013062_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. |
SP Function: this magnesium-dependent enzyme catalyzes the hydrolysis of atp coupled with the transport of calcium out of the cell. |
Gene Ontology:
molecular function: molecular function: biological process: molecular function: molecular function: biological process: molecular function: molecular function: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014883_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM] |
SP Function: rapidly transports ca(2+) during excitation-contraction coupling. ca(2+) is extruded from the cell during relaxation so as to prevent overloading of intracellular stores. |
Gene Ontology:
molecular function: biological process: molecular function: molecular function: molecular function: biological process: cellular component: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001274_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function:
inhibits signal transduction by increasing the gtpase activity of g protein alpha subunits thereby driving them into their inactive gdp-bound form. may play a role in leukemogenesis. |
Gene Ontology:
molecular function: molecular function: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001339_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. |
SP Function: inhibits signal transduction by increasing the gtpase activity of g protein alpha subunits thereby driving them into their inactive gdp-bound form. this protein may be involved in the regulation of b-cell activation and proliferation. |
Gene Ontology:
biological process: biological process: molecular function: molecular function: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001382_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: bind to cell-surface proteins, including amyloid precursor protein, neurexins, and syndecans. may mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1. |
Gene Ontology:
molecular function: cellular component: molecular function: biological process: molecular function: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Synaptic Proteins at the Synaptic Junction |
KEGG Pathways: |
| Unique id : H002418_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The human leukocyte differentiation antigen CD23 (FCE2) is a key molecule for B-cell activation and growth. It is the low-affinity receptor for IgE. The truncated molecule can be secreted, then functioning as a potent mitogenic growth factor.[supplied by OMIM] |
SP Function: this receptor has essential roles in the regulation of ige production and in the differentiation of b-cells (it is a b- cell-specific antigen). |
Gene Ontology:
molecular function: cellular component: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002831_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: receptor for the fc region of igg. binds complexed or aggregated igg and also monomeric igg. mediates antibody-dependent cellular cytotoxicity (adcc) and other antibody-dependent responses, such as phagocytosis. |
Gene Ontology:
molecular function: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002978_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: receptor for the fc region of complexed or aggregated immunoglobulins gamma. low affinity receptor. involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by b- cells. binding to this receptor results in downmodulation of previous state of cell activation triggered via antigen receptors on b cells (bcr), t cells (tcr) or via another fc receptor. isoform iib1 fails to mediate endocytosis or phagocytosis. isoform iib2 does not trigger phagocytosis. |
Gene Ontology:
molecular function: biological process: biological process: cellular component: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003124_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: binds to the fc region of monomeric immunoglobulins gamma. mediates the uptake of igg from milk. possible role in transfer of immunoglobulin g from mother to fetus. |
Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003417_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: binds to the fc region of immunoglobulins gamma. low affinity receptor. by binding to igg it initiates cellular responses against pathogens and soluble antigens. |
Gene Ontology:
molecular function: biological process: cellular component: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: B Lymphocyte Cell Surface Molecules |
KEGG Pathways: |
| Unique id : H000403_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors. |
SP Function: the gamma subunit has a critical role in allowing the ige fc receptor to reach the cell surface. |
Gene Ontology:
molecular function: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Fc Epsilon Receptor I Signaling in Mast Cells |
KEGG Pathways: |
| Unique id : H010933_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: galactose-specific lectin which binds ige. |
Gene Ontology:
molecular function: cellular component: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000983_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The IgE receptor plays a central role in allergic disease, coupling allergen and mast cell to initiate the inflammatory and immediate hypersensitivity responses that are characteristic of disorders such as hay fever and asthma. The allergic response occurs when 2 or more high-affinity IgE receptors are cross linked via IgE molecules that in turn are bound to an allergen (antigen) molecule. A perturbation occurs that brings about the release of histamine and proteases from the granules in the cytoplasm of the mast cell and leads to the synthesis of prostaglandins and leukotrienes–potent effectors of the hypersensitivity response. The IgE receptor consists of 3 subunits: alpha, beta (MIM 147138), and gamma (MIM 147139); only the alpha subunit is glycosylated.[supplied by OMIM] |
SP Function: binds to the fc region of immunoglobulins epsilon. high affinity receptor. responsible for initiating the allergic response. binding of allergen to receptor-bound ige leads to cell activation and the release of mediators (such as histamine) responsible for the manifestations of allergy. the same receptor also induces the secretion of important lymphokines. |
Gene Ontology:
molecular function: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Fc Epsilon Receptor I Signaling in Mast Cells |
KEGG Pathways: |
| Unique id : H001128_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: receptor for the fc region of igg. binds complexed or aggregated igg and also monomeric igg. mediates antibody-dependent cellular cytotoxicity (adcc) and other antibody-dependent responses, such as phagocytosis. |
Gene Ontology:
molecular function: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015723_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: receptor for the fc region of igg. binds complexed or aggregated igg and also monomeric igg. mediates antibody-dependent cellular cytotoxicity (adcc) and other antibody-dependent responses, such as phagocytosis. |
Gene Ontology:
molecular function: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000188_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: converts arachidonic acid to 15s- hydroperoxyeicosatetraenoic acid. also acts on c-12 of arachidonate as well as on linoleic acid. |
Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: biological process: molecular function: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001773_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: hydrolyzes an epoxide moiety of leukotriene a4 (lta-4) to form leukotriene b4 (ltb-4). the enzyme also has some peptidase activity. |
Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001871_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. |
SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001957_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. |
SP Function: produced by activated macrophages, il-1 stimulates thymocyte proliferation by inducing il-2 release, b-cell maturation and proliferation, and fibroblast growth factor activity. il-1 proteins are involved in the inflammatory response, being identified as endogenous pyrogens, and are reported to stimulate the release of prostaglandin and collagenase from synovial cells. |
Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: biological process: biological process: molecular function: biological process: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Signal transduction through IL1R 2: IL 5 Signaling Pathway 3: Msp/Ron Receptor Signaling Pathway 4: NFkB activation by Nontypeable Hemophilus influenzae |
KEGG Pathways: |
| Unique id : H000251_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: MEFV was identified as the gene that when mutated causes Mediterranean fever, a hereditary periodic fever syndrome. MEFV is expressed in granulocytes and myeloid bone marrow precursors. |
SP Function: probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization. |
Gene Ontology:
molecular function: cellular component: biological process: cellular component: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002085_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. |
SP Function: appears to function in modulating the activity of the immune system during the acute-phase reaction. |
Gene Ontology:
biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002159_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a cytokine that is specifically induced by apoptosis. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor of SCYE1 (pro-SCYE1) is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex. Therefore, pro-SCYE1 may function in binding RNA as part of the tRNA synthetase complex in normal cells and in stimulating inflammatory responses after proteolytic cleavage in tumor cells. |
SP Function: | Gene Ontology:
biological process: biological process: molecular function: cellular component: biological process: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002269_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a cytokine that acts as a regulator of a variety of hematopoietic cells. This cytokine stimulates cell proliferation and prevents apoptosis. It functions through the interleukin 9 receptor (IL9R), which activates different signal transducer and activator (STAT) proteins and thus connects this cytokine to various biological processes. The gene encoding this cytokine has been identified as a candidate gene for asthma. Genetic studies on a mouse model of asthma demonstrated that this cytokine is a determining factor in the pathogenesis of bronchial hyperresponsiveness. |
SP Function: supports il-2 independent and il-4 independent growth of helper t-cells. |
Gene Ontology:
biological process: cellular component: biological process: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Cytokine Network 2: Erythrocyte Differentiation Pathway 3: Regulation of hematopoiesis by cytokines |
KEGG Pathways: |
| Unique id : H002327_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: There are 3 types of adenosine receptors, each of which contains 7 transmembrane domains and interacts with G proteins. The A1 receptors inhibit adenylate cyclase while the type A2 receptors stimulate activity. Each adenosine receptor has a specific pattern of ligand binding and a unique tissue distribution. The human ADORA1 gene consists of 6 exons of which the last 2 are part of the coding region. A study of mRNAs from a range of human tissues revealed the existence of alternative splicing within the 5′ UTR. Transcripts containing exons 4, 5 and 6 were found in all tissues while a distinct transcript containing exons 3, 5 and 6 was seen only in certain tissues. No transcript contained both exons 3 and 4. |
SP Function: receptor for adenosine. the activity of this receptor is mediated by g proteins which inhibit adenylyl cyclase. |
Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: cellular component: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002332_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: biological process: biological process: biological process: cellular component: molecular function: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002337_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: For background information on chemokines, see CXCL11 (SCYB11; MIM 604852). Stromal cell-derived factors 1-alpha and 1-beta are small cytokines that belong to the intercrine family, members of which activate leukocytes and are often induced by proinflammatory stimuli such as lipopolysaccharide, TNF (see MIM 191160), or IL1 (see MIM 147760). The intercrines are characterized by the presence of 4 conserved cysteines which form 2 disulfide bonds. They can be classified into 2 subfamilies. In the CC subfamily, which includes beta chemokine, the cysteine residues are adjacent to each other. In the CXC subfamily, which includes alpha chemokine, they are separated by an intervening amino acid. The SDF1 proteins belong to the latter group.[supplied by OMIM] |
SP Function: chemoattractant active on t-lymphocytes, monocytes, but not neutrophils. sdf-1-beta(3-72) and sdf-1-alpha(3-67) show a reduced chemotactic activity. binding to cell surface proteoglycans seems to inhibit formation of sdf-1-alpha(3-67) and thus to preserve activity on local sites. |
Gene Ontology:
biological process: biological process: biological process: biological process: molecular function: biological process: biological process: cellular component: molecular function: biological process: biological process: biological process: biological process: biological process: |
BioCarta Pathways:
1: Pertussis toxin-insensitive CCR5 Signaling in Macrophage 2: CXCR4 Signaling Pathway |
KEGG Pathways: |
| Unique id : H002347_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002377_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: cellular component: cellular component: biological process: cellular component: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002469_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. People with C3 deficiency are susceptible to bacteria infection. |
SP Function: derived from proteolytic degradation of complement c3, c3a anaphylatoxin is a mediator of local inflammatory process. it induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes. |
Gene Ontology:
biological process: biological process: biological process: molecular function: cellular component: biological process: biological process: molecular function: biological process: |
BioCarta Pathways:
1: Cells and Molecules involved in local acute inflammatory response 2: Alternative Complement Pathway 3: Classical Complement Pathway 4: Complement Pathway 5: Lectin Induced Complement Pathway |
KEGG Pathways: |
| Unique id : H002470_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Four transcript variants encoding distinct isoforms have been identified for this gene. |
SP Function: plays a role in the inducible expression of cytokine genes in t cells, especially in the induction of the il-2. |
Gene Ontology:
biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002476_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: biological process: biological process: biological process: biological process: biological process: molecular function: biological process: cellular component: biological process: cellular component: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002499_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Eicosanoid Metabolism |
KEGG Pathways: |
| Unique id : H002500_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: high affinity receptor for sphingosylphosphorylcholine, coupled to g proteins that stimulate phosphoinositide hydrolysis. |
Gene Ontology:
biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002526_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: derived from proteolytic degradation of complement c5, c5 anaphylatoxin is a mediator of local inflammatory process. it induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes. c5a also stimulates the locomotion of polymorphonuclear leukocytes (chemokinesis) and direct their migration toward sites of inflammation (chemotaxis). |
Gene Ontology:
biological process: biological process: molecular function: biological process: biological process: biological process: biological process: molecular function: cellular component: biological process: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Cells and Molecules involved in local acute inflammatory response 2: Alternative Complement Pathway 3: Classical Complement Pathway 4: Complement Pathway 5: Adhesion and Diapedesis of Granulocytes 6: Lectin Induced Complement Pathway |
KEGG Pathways: |
| Unique id : H002617_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: has chemotactic activity for neutrophils. may play a role in inflammation and exert its effects on endothelial cells in an autocrine fashion. in vitro, the processed form gro-gamma(5-73) shows a fivefold higher chemotactic activity for neutrophilic granulocytes. |
Gene Ontology:
biological process: molecular function: biological process: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002638_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. |
SP Function: receptor for il10 and il22. serves as an accessory chain essential for the active il10 receptor complex and to initiate il10-induced signal transduction events. |
Gene Ontology:
biological process: molecular function: biological process: biological process: cellular component: cellular component: molecular function: cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002665_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell’s respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. |
SP Function: critical component of the membrane-bound oxidase of phagocytes that generates superoxide. it is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic nadph across the plasma membrane to molecular oxygen on the exterior. also functions as a voltage-gated proton channel that mediates the h(+) currents of resting phagocytes. it participates in the regulation of cellular ph and is blocked by zinc. |
Gene Ontology:
biological process: biological process: molecular function: biological process: biological process: cellular component: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002710_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: molecular function: biological process: cellular component: biological process: biological process: biological process: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: |
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 : H002713_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The PLA2G7 gene encodes platelet-activating factor (PAF) acetylhydrolase (EC 3.1.1.47), a secreted enzyme that catalyzes the degradation of PAF to inactive products by hydrolysis of the acetyl group at the sn-2 position, producing the biologically inactive products LYSO-PAF and acetate.[supplied by OMIM] |
SP Function: modulates the action of platelet-activating factor (paf) by hydrolyzing the sn-2 ester bond to yield the biologically inactive lyso-paf. has a specificity for substrates with a short residue at the sn-2 position. it is inactive against long-chain phospholipids. |
Gene Ontology:
molecular function: cellular component: cellular component: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002797_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: There are 3 types of adenosine receptors, each of which contains 7 transmembrane domains and interacts with G proteins. The A1 receptors inhibit adenylate cyclase while the type A2 receptors stimulate activity. Each adenosine receptor has a specific pattern of ligand binding and a unique tissue distribution. Adenosine released during cardiac ischemia exerts a potent, protective effect in the heart. The adenosine A3 receptor is expressed on cardiac ventricular cells, and its activation protects the ventricular heart cell against injury during a subsequent exposure to ischemia. |
SP Function: receptor for adenosine. the activity of this receptor is mediated by g proteins which inhibits adenylyl cyclase. possible role in reproduction. |
Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002891_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: molecular function: biological process: biological process: cellular component: biological process: biological process: molecular function: biological process: biological process: biological process: |
BioCarta Pathways:
1: Pertussis toxin-insensitive CCR5 Signaling in Macrophage 2: Selective expression of chemokine receptors during T-cell polarization |
KEGG Pathways: |
| Unique id : H002922_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: biological process: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Corticosteroids and cardioprotection |
KEGG Pathways: |
| Unique id : H002944_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: biological process: molecular function: biological process: cellular component: biological process: biological process: molecular function: biological process: biological process: biological process: biological process: molecular function: biological process: biological process: cellular component: |
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 : H002951_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: displays several functions associated with host defense: it promotes agglutination, bacterial capsular swelling, phagocytosis and complement fixation through its calcium-dependent binding to phosphorylcholine. can interact with dna and histones and may scavenge nuclear material released from damaged circulating cells. |
Gene Ontology:
biological process: molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002959_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. Similar to other chemokines the protein encoded by this gene inhibits hemopoiesis and stimulates chemotaxis. This protein is chemotactic in vitro for thymocytes and activated T cells, but not for B cells, macrophages, or neutrophils. The cytokine encoded by this gene may also play a role in mediating homing of lymphocytes to secondary lymphoid organs. It is a high affinity functional ligand for chemokine receptor 7 (CCR7) that is expressed on T and B lymphocytes and a known receptor for another member of the cytokine family (small inducible cytokine A19). |
SP Function: inhibits hemopoiesis and stimulate chemotaxis. chemotactic in vitro for thymocytes and activated t cells, but not for b cells, macrophages, or neutrophils. shows preferential activity towards naive t cells. may play a role in mediating homing of lymphocytes to secondary lymphoid organs. binds to ccr7. |
Gene Ontology:
biological process: molecular function: biological process: cellular component: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002964_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of START-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Two alternatively spliced transcript variants that encode the identical protein have been reported for this gene. |
SP Function: transcriptional regulator that probably plays an important role in lymphomagenesis. |
Gene Ontology:
biological process: biological process: cellular component: biological process: cellular component: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003043_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. |
SP Function: mediates b-cell proliferation in the absence of co- stimulus as well as ige production in the presence of il-4. involved in immunoglobulin class switching. |
Gene Ontology:
biological process: molecular function: biological process: biological process: biological process: cellular component: biological process: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Antigen Dependent B Cell Activation 2: Bystander B Cell Activation 3: CD40L Signaling Pathway 4: Selective expression of chemokine receptors during T-cell polarization 5: Th1/Th2 Differentiation |
KEGG Pathways: |
| Unique id : H003130_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: cellular component: biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003139_01 Name: Gene Symbol: Locus Link: Chromosome: |
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 signalling. |
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: biological process: biological process: biological process: biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: biological process: biological process: molecular function: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003225_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: IRF7 encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. IRF7 has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. Multiple IRF7 transcript variants have been identified, although the functional consequences of these have not yet been established. |
SP Function: transcriptional activator. binds to the interferon- stimulated response element (isre) in ifn promoters and in the q promoter (qp) of ebv nuclear antigen-1 (ebna1). |
Gene Ontology:
cellular component: biological process: biological process: cellular component: biological process: biological process: biological process: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003335_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. |
SP Function: expressed by macrophages in acutely inflammated tissues and in chronic inflammations. seem to be an inhibitor of protein kinases. also expressed in epithelial cells constitutively or induced during dermatoses. may interact with components of the intermediate filaments in monocytes and epithelial cells. |
Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003352_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein is a receptor for interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA). It is an important mediator involved in many cytokine induced immune and inflammatory responses. This gene along with interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 2 (IL1RL2), and interleukin 1 receptor-like 1 (IL1RL1) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. |
SP Function: receptor for interleukin-1 alpha (il-1a), beta (il-1b), and interleukin-1 receptor antagonist protein (il-1ra). binding to the agonist leads to the activation of nf-kappa-b. signaling involves formation of a ternary complex containing il1rap, tollip, myd88, and irak1 or irak2. |
Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Signal transduction through IL1R 2: NF-kB Signaling Pathway |
KEGG Pathways: |
| Unique id : H003424_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: |
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 : H000386_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell surface receptor complex, RP105/MD-1. It belongs to the family of pathogen receptors, Toll-like receptors (TLR). RP105/MD1, by working in concert with TLR4, controls B cell recognition and signaling of lipopolysaccharide (LPS), a membrane constituent of Gram-negative bacteria [PROW] |
SP Function: may cooperate with md-1 and tlr4 to mediate the innate immune response to bacterial lipopolysaccharide (lps) in b cells. leads to nf-kappa-b activation. also involved in the life/death decision of b cells (by similarity). |
Gene Ontology:
biological process: biological process: cellular component: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003496_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: molecular function: biological process: biological process: cellular component: biological process: biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003584_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: PTAFR shows structural characteristics of the rhodopsin (MIM 180380) gene family and binds platelet-activating factor (PAF). PAF is a phospholipid (1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholine) that has been implicated as a mediator in diverse pathologic processes, such as allergy, asthma, septic shock, arterial thrombosis, and inflammatory processes.[supplied by OMIM] |
SP Function: receptor for platelet activating factor, a chemotactic phospholipid mediator that possesses potent inflammatory, smooth- muscle contractile and hypotensive activity. seem to mediate its action via a g protein that activate a phosphatidylinositol- calcium second messenger system. |
Gene Ontology:
biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003600_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. |
SP Function: this enzyme acts on epoxides (alkene oxides, oxiranes) and arene oxides. plays a role in xenobiotic metabolism by degrading potential toxic epoxides. also determines steady-state levels of physiological mediators. |
Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: molecular function: biological process: biological process: biological process: molecular function: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003668_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003711_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. |
SP Function: appears to have dual functions such as cytoplasmic retention of attached nf-kappa-b proteins and generation of p50 by a cotranslational processing. the proteasome-mediated process ensures the production of both p50 and p105 and preserves their independent function, although processing of nfkb1/p105 also appears to occur posttranslationally. p50 binds to the kappa-b consensus sequence 5′-ggrnnyycc-3′, located in the enhancer region of genes involved in immune response and acute phase reactions. play a role in the regulation of apoptosis. |
Gene Ontology:
biological process: biological process: biological process: cellular component: biological process: cellular component: molecular function: biological process: biological process: biological process: molecular function: biological process: |
BioCarta Pathways:
1: The 4-1BB-dependent immune response 2: HIV-I Nef: negative effector of Fas and TNF 3: Acetylation and Deacetylation of RelA in The Nucleus 4: Influence of Ras and Rho proteins on G1 to S Transition 5: AKT Signaling Pathway 6: ATM Signaling Pathway 7: Role of EGF Receptor Transactivation by GPCRs in Cardiac Hypertrophy 8: CD40L Signaling Pathway 9: Cadmium induces DNA synthesis and proliferation in macrophages 10: Ceramide Signaling Pathway 11: CXCR4 Signaling Pathway 12: Induction of apoptosis through DR3 and DR4/5 Death Receptors 13: Erythropoietin mediated neuroprotection through NF-kB 14: fMLP induced chemokine gene expression in HMC-1 cells 15: Free Radical Induced Apoptosis 16: Corticosteroids and cardioprotection 17: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 18: Human Cytomegalovirus and Map Kinase Pathways 19: Signal transduction through IL1R 20: Keratinocyte Differentiation 21: MAP Kinase Signaling Pathway 22: NF-kB Signaling Pathway 23: NFkB activation by Nontypeable Hemophilus influenzae 24: The information-processing pathway at the IFN-beta enhancer 25: Activation of PKC through G protein coupled receptor 26: Bone Remodelling 27: Ras Signaling Pathway 28: Double Stranded RNA Induced Gene Expression 29: TNF/Stress Related Signaling 30: TACI and BCMA stimulation of B cell immune responses. 31: T Cell Receptor Signaling Pathway 32: Chaperones modulate interferon Signaling Pathway 33: TNFR2 Signaling Pathway 34: Toll-Like Receptor Pathway 35: Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells |
KEGG Pathways: |
| Unique id : H003751_01 Name: UniGene: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Acyloxyacyl hydrolase (AOAH) is a 2-subunit lipase which selectively hydrolyzes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A region of bacterial endotoxins. AOAH may modulate host inflammatory responses to gram-negative bacterial invasion. The 2 subunits are encoded by a single mRNA. |
SP Function: removes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid a region of bacterial lipopolysaccharides. |
Gene Ontology:
molecular function: molecular function: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003791_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: molecular function: molecular function: biological process: cellular component: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003863_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the immunoglobulin superfamily of cell surface molecules. It is a receptor for various molecules, including the amyloidogenic form of serum amyloid A, amyloid-beta protein, members of the S100/calgranulin superfamily and advanced glycation end products. The gene lies within the major histocompatibility complex (MHC) class III region on chromosome 6. Alternative splicing results in two transcript variants encoding different isoforms. |
SP Function: mediates interactions of advanced glycosylation end products (age). these are nonenzymatically glycosylated proteins which accumulate in vascular tissue in aging and at an accelerated rate in diabetes. receptor for amyloid beta peptide. |
Gene Ontology:
biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003899_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Selective expression of chemokine receptors during T-cell polarization |
KEGG Pathways: |
| Unique id : H003909_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. |
SP Function: | Gene Ontology:
molecular function: molecular function: biological process: cellular component: molecular function: biological process: biological process: molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005417_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: molecular function: molecular function: biological process: cellular component: cellular component: cellular component: biological process: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000547_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene belongs to the subfamily of small cytokine CC genes. 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 dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Two alternatively spliced variants encoding two different isoforms have been identified. |
SP Function: potentially involved in t cell development. recombinant teck shows chemotactic activity on thymocytes, macrophages, thp-1 cells, and dendritics cells but is inactive on peripheral blood lymphocytes and neutrophils. binds to ccr9. isoform 2 is an antagonist of isoform 1. |
Gene Ontology:
biological process: molecular function: biological process: cellular component: molecular function: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006116_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The MD-2 protein appears to associate with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccharide (LPS), thus providing a link between the receptor and LPS signaling. |
SP Function: cooperates with tlr4 in the innate immune response to bacterial lipopolysaccharide (lps), and with tlr2 in the response to cell wall components from gram-positive and gram-negative bacteria. enhances tlr4-dependent activation of nf-kappa-b. cells expressing both md2 and tlr4, but not tlr4 alone, respond to lps. |
Gene Ontology:
biological process: biological process: biological process: molecular function: biological process: cellular component: |
BioCarta Pathways:
1: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 2: Toll-Like Receptor Pathway |
KEGG Pathways: |
| Unique id : H000006_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in different tissues under normal conditions and during inflammatory processes. This protein interacts with peroxisome receptor 1. The crystal structure of this protein in its reduced form has been resolved to 1.5 angstrom resolution. This gene uses alternate in-frame translation initiation sites to generate mitochondrial or peroxisomal/cytoplasmic forms. Three transcript variants encoding distinct isoforms have been identified for this gene. |
SP Function: reduces hydrogen peroxide and alkyl hydroperoxides with reducing equivalents provided through the thioredoxin system. involved in intracellular redox signaling. |
Gene Ontology:
molecular function: molecular function: biological process: cellular component: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006580_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. |
SP Function: participates in the innate immune response to microbial agents. cooperates with tlr2 and modulates the response to microbial constituents. acts via myd88 and traf6, leading to nf- kappa-b activation, cytokine secretion and the inflammatory response (by similarity). |
Gene Ontology:
biological process: biological process: biological process: cellular component: biological process: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000598_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: receptor for glucocorticoids (gc). has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (gre) and as a modulator of other transcription factors. affects inflammatory responses, cellular proliferation and differentiation in target tissues. |
Gene Ontology:
cellular component: molecular function: biological process: cellular component: cellular component: biological process: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways:
1: Corticosteroids and cardioprotection 2: Chromatin Remodeling by hSWI/SNF ATP-dependent Complexes 3: NFkB activation by Nontypeable Hemophilus influenzae 4: Visceral Fat Deposits and the Metabolic Syndrome |
KEGG Pathways: |
| Unique id : H007319_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: cellular component: molecular function: cellular component: molecular function: biological process: biological process: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) 2: Regulation of PGC-1a |
KEGG Pathways: |
| Unique id : H000642_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000657_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: adapter protein involved in the toll-like receptor and il-1 receptor signaling pathway in the innate immune response. acts via irak1, irak2 and traf6, leading to nf-kappa-b activation, cytokine secretion and the inflammatory response. increases il-8 transcription. may be involved in myeloid differentiation. |
Gene Ontology:
biological process: molecular function: biological process: biological process: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 2: Signal transduction through IL1R 3: NF-kB Signaling Pathway 4: NFkB activation by Nontypeable Hemophilus influenzae 5: Toll-Like Receptor Pathway |
KEGG Pathways: |
| Unique id : H007722_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: cellular component: molecular function: cellular component: molecular function: biological process: biological process: biological process: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007856_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: biological process: cellular component: cellular component: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007884_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: component of the signaling pathway of il-1 and toll-like receptors. inhibits cell activation by microbial products. recruits irak1 to the il-1 receptor complex. inhibits irak1 phosphorylation and kinase activity. |
Gene Ontology:
molecular function: cellular component: biological process: biological process: cellular component: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 2: Signal transduction through IL1R 3: Toll-Like Receptor Pathway |
KEGG Pathways: |
| Unique id : H008778_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene product is expressed in myelomonocytic cells, and recognizes bacterial flagellin, a principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB and stimulates tumor necrosis factor-alpha production. |
SP Function: participates in the innate immune response to microbial agents. mediates detection of bacterial flagellins. acts via myd88 and traf6, leading to nf-kappa-b activation, cytokine secretion and the inflammatory response. |
Gene Ontology:
biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009233_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000825_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. |
SP Function: expressed by macrophages in chronic inflammations. also expressed in epithelial cells constitutively or induced during dermatoses. may interact with components of the intermediate filaments in monocytes and epithelial cells. |
Gene Ontology:
molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011421_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It may thus play a role in host defense against viruses. Use of alternative polyadenylation sites to generate different length transcripts has been noted for this gene. |
SP Function: participates in the innate immune response to microbial agents. may be involved in the recognition of ds-rna. acts via myd88 and traf6, leading to nf-kappa-b activation, cytokine secretion and the inflammatory response (by similarity). |
Gene Ontology:
biological process: biological process: biological process: molecular function: biological process: biological process: biological process: cellular component: biological process: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Toll-Like Receptor Pathway |
KEGG Pathways: |
| Unique id : H011600_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. In addition, expression of this gene is upregulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Six transcript variants encoding three different isoforms have been found for this gene. |
SP Function: may affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles. |
Gene Ontology:
cellular component: biological process: molecular function: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000978_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: catalyzes the o-sulfation of tyrosine residues within acidic motifs of polypeptides. |
Gene Ontology:
cellular component: biological process: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id
: H013244_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: NMYC interactor (NMI) encodes a protein that interacts with NMYC and CMYC (two members of the oncogene Myc family), and other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 and augments STAT-mediated transcription in response to cytokines IL2 and IFN-gamma. The NMI mRNA has low expression levels in all human fetal and adult tissues tested except brain and has high expression in cancer cell line-myeloid leukemias. |
SP Function: may be involved in augmenting coactivator protein recruitment to a group of sequence-specific transcription factors. augments cytokine-mediated stat transcription. enhances cbp/p300 coactivator protein recruitment to stat1 and stat5. |
Gene Ontology:
biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways:
1: IL-2 Receptor Beta Chain in T cell Activation 2: IL-7 Signal Transduction |
KEGG Pathways: |
| Unique id : H013753_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001039_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene belongs to the subfamily of small cytokine CC genes. 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 on resting T lymphocytes, a minimal activity on neutrophils, and is negative on monocytes and activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. |
SP Function: chemotactic for resting t lymphocytes, and eosinophils. has lower chemotactic activity for neutrophils but none for monocytes and activated lymphocytes. is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. binds to ccr3. |
Gene Ontology:
biological process: molecular function: biological process: cellular component: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001044_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that it participates in the development of the tissues. However, its exact significance is still obscure. |
SP Function: promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. shows affinity for calcium and barium ions. |
Gene Ontology:
biological process: molecular function: cellular component: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014648_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: biological process: biological process: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015328_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: cellular component: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015337_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways:
1: IL22 Soluble Receptor Signaling Pathway |
KEGG Pathways: |
| Unique id : H015524_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: There are 3 types of adenosine receptors, each of which contains 7 transmembrane domains and interacts with G proteins. The A1 receptors inhibit adenylate cyclase while the type A2 receptors stimulate activity. Each adenosine receptor has a specific pattern of ligand binding and a unique tissue distribution. Adenosine released during cardiac ischemia exerts a potent, protective effect in the heart. The adenosine A3 receptor is expressed on cardiac ventricular cells, and its activation protects the ventricular heart cell against injury during a subsequent exposure to ischemia. |
SP Function: receptor for adenosine. the activity of this receptor is mediated by g proteins which inhibits adenylyl cyclase. possible role in reproduction. |
Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015755_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Selective expression of chemokine receptors during T-cell polarization |
KEGG Pathways: |
| Unique id : H001215_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016544_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: cellular component: biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001290_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent signal transduction pathways and its regulatory effect on cytoskeletal components may modulate various neutrophil activities. |
SP Function: calcitermin possesses antifungal activity against c.albicans and is also active against e.coli and p.aeruginosa but not l.monocytogenes and s.aureus. |
Gene Ontology:
molecular function: cellular component: biological process: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001299_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. 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 may play a role in normal lymphocyte recirculation and homing. It also plays an important role in trafficking of T cells in thymus, and in T cell and B cell migration to secondary lymphoid organs. It specifically binds to chemokine receptor CCR7. |
SP Function: may play a role not only in inflammatory and immunological responses but also in normal lymphocyte recirculation and homing. may play an important role in trafficking of t cells in thymus, and t cell and b cell migration to secondary lymphoid organs. specifically binds to chemokine receptor ccr7. recombinant scya19 shows potent chemotactic activity for t cells and b cells but not for granulocytes and monocytes. |
Gene Ontology:
biological process: molecular function: biological process: cellular component: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001303_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. 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, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. |
SP Function: may play a role in the trafficking of activated/effector t lymphocytes to inflammatory sites and other aspects of activated t lymphocyte physiology. chemotactic for monocytes, dendritic cells and natural killer cells. mild chemoattractant for primary activated t lymphocytes and a potent chemoattractant for chronically activated t lymphocytes but has no chemoattractant activity for neutrophils, eosinophils, and resting t lymphocytes. binds to ccr4. processed forms mdc(3-69), mdc(5-69) and mdc(7-69) seem not be active. |
Gene Ontology:
biological process: biological process: molecular function: biological process: cellular component: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001407_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Eicosanoid Metabolism |
KEGG Pathways: |
| Unique id : H001724_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: POU4F2 is a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. A class IV POU-domain protein, POU4F2 is found in human retina exclusively within a subpopulation of ganglion cells where it may play a role in determining or maintaining the identities of a small subset of visual system neurons.[supplied by OMIM] |
SP Function: may play a role in determining or maintaining the identities of a small subset of visual system neurons. |
Gene Ontology:
biological process: biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001878_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes one of three enolase isoenzymes found in mammals; it encodes alpha-enolase, a homodimeric soluble enzyme, and also encodes a shorter monomeric structural lens protein, tau-crystallin. The two proteins are made from the same message. The full length protein, the isoenzyme, is found in the cytoplasm. The shorter protein is produced from an alternative translation start, is localized to the nucleus, and has been found to bind to an element in the c-myc promoter. A pseudogene has been identified that is located on the other arm of the same chromosome. |
SP Function: | Gene Ontology:
biological process: molecular function: molecular function: biological process: biological process: cellular component: molecular function: molecular function: cellular component: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Glycolysis Pathway |
KEGG Pathways: |
| Unique id : H000255_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: may be involved in transcriptional regulation as a weak repressor when alone, or a potent one when fused with a heterologous protein containing a krab b-domain. |
Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002125_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: DNA (cytosine-5-)-methyltransferase 1 has a role in the establishment and regulation of tissue-specific patterns of methylated cytosine residues. Aberrant methylation patterns are associated with certain human tumors and developmental abnormalities. |
SP Function: methylates cpg residues. preferentially methylates hemimethylated DNA. it is responsible for maintaining methylation patterns established in development. mediates transcriptional repression by direct binding to hdac2. |
Gene Ontology:
molecular function: molecular function: biological process: molecular function: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000272_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: transcriptional factor. activates the epsilon- and gamma-globin gene promoters and, to a much lower degree, the beta- globin gene and represses promoters containing sp1-like binding sites inhibiting cell growth. |
Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000280_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: transcriptional repressor. |
Gene Ontology:
biological process: cellular component: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002623_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The human MDM4 gene, which plays a role in apoptosis, encodes a 490-amino acid protein containing a RING finger domain and a putative nuclear localization signal. The MDM4 putative nuclear localization signal, which all Mdm proteins contain, is located in the C-terminal region of the protein. The mRNA is expressed at a high level in thymus and at lower levels in all other tissues tested. MDM4 protein produced by in vitro translation interacts with p53 via a binding domain located in the N-terminal region of the MDM4 protein. MDM4 shows significant structural similarity to p53-binding protein MDM2 |
SP Function: inhibits p53- and p73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. inhibits degradation of mdm2. can reverse mdm2-targeted degradation of p53 while maintaining suppression of p53 transactivation and apoptotic functions. |
Gene Ontology:
biological process: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: biological process: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002964_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of START-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Two alternatively spliced transcript variants that encode the identical protein have been reported for this gene. |
SP Function: transcriptional regulator that probably plays an important role in lymphomagenesis. |
Gene Ontology:
biological process: biological process: cellular component: biological process: cellular component: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000352_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: may function as a transcription factor. |
Gene Ontology:
biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003112_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression (‘cure’) occurs in some cases.[supplied by OMIM] |
SP Function: probably acts as a regulator of other genes. forms a complex with adenovirus e1a and with sv40 large t antigen. acts as a tumor suppressor. may bind and modulate functionally certain cellular proteins with which t and e1a compete for pocket binding. potent inhibitor of e2f-mediated trans-activation. recruits and targets histone methyltransferase suv39h1 leading to epigenetic transcriptional repression. inhibits the intrinsic kinase activity of taf1. |
Gene Ontology:
biological process: cellular component: biological process: biological process: cellular component: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: Influence of Ras and Rho proteins on G1 to S Transition 3: Tumor Suppressor Arf Inhibits Ribosomal Biogenesis 4: BTG family proteins and cell cycle regulation 5: Cyclins and Cell Cycle Regulation 6: FAS signaling pathway ( CD95 ) 7: Cyclin E Destruction Pathway 8: Cell Cycle: G1/S Check Point 9: Human Cytomegalovirus and Map Kinase Pathways 10: Regulation of p27 Phosphorylation during Cell Cycle Progression 11: p53 Signaling Pathway 12: Regulation of transcriptional activity by PML 13: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) 14: RB Tumor Suppressor/Checkpoint Signaling in response to DNA damage 15: E2F1 Destruction Pathway 16: Telomeres, Telomerase, Cellular Aging, and Immortality 17: Overview of telomerase RNA component gene hTerc Transcriptional Regulation 18: Chaperones modulate interferon Signaling Pathway 19: TNFR1 Signaling Pathway |
KEGG Pathways: |
| Unique id : H003118_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. |
SP Function: specifically binds to the upstream regulatory region of type i ifn and ifn-inducible mhc class i genes (the interferon consensus sequence (ICS) and represses those genes. |
Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003225_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: IRF7 encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. IRF7 has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. Multiple IRF7 transcript variants have been identified, although the functional consequences of these have not yet been established. |
SP Function: transcriptional activator. binds to the interferon- stimulated response element (isre) in ifn promoters and in the q promoter (qp) of ebv nuclear antigen-1 (ebna1). |
Gene Ontology:
cellular component: biological process: biological process: cellular component: biological process: biological process: biological process: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003239_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003268_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: binds to the gm-csf promoter. seems to act as a repressor. |
Gene Ontology:
molecular function: molecular function: cellular component: molecular function: biological process: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003463_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: binds to the pu-box, a purine-rich dna sequence (5′- gaggaa-3′) that can act as a lymphoid-specific enhancer. this protein is a transcriptional activator that may be specifically involved in the differentiation or activation of macrophages or b- cells. |
Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003579_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: transcriptional repressor involved in the regulation of cell growth. inhibits cell growth. binds to the consensus sequence 5′-ggtgtg-3′. |
Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003665_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Transcriptional insulators are DNA elements that set boundaries on the actions of enhancer and silencer elements and thereby organize the eukaryotic genome into regulatory domains (Kuhn and Geyer, 2003 [PubMed 12787766]). All vertebrate insulators appear to use the versatile CTCF protein. CTCF uses various combinations of its 11 zinc fingers to recognize a variety of unrelated DNA sequences. Once bound to DNA, CTCF can function as a transcriptional insulator, repressor, or activator, depending on the context of the binding site (Jeong and Pfeifer, 2004 [PubMed 15454938]).[supplied by OMIM] |
SP Function: transcriptional repressor binding to promoters of vertebrate c-myc gene. also binds to the plk and pim1 promoters. may prevent the access of transcriptional activators to enhancers. also acts as a transcriptional activator of app. involved in different aspects of gene regulation including promoter activation or repression, hormone-responsive gene silencing, methylation- dependent chromatin insulation, and genomic imprinting. seems to act as tumor suppressor. |
Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: CTCF: First Multivalent Nuclear Factor |
KEGG Pathways: |
| Unique id : H003766_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene is a target gene of the transcription factor tumor protein p53. The encoded protein is a nuclear phosphoprotein that binds and inhibits transactivation by tumor protein p53, as part of an autoregulatory negative feedback loop. Overexpression of this gene can result in excessive inactivation of tumor protein p53, diminishing its tumor suppressor function. This protein has E3 ubiquitin ligase activity, which targets tumor protein p53 for proteasomal degradation. This protein also affects the cell cycle, apoptosis, and tumorigenesis through interactions with other proteins, including retinoblastoma 1 and ribosomal protein L5. More than 40 different alternatively spliced transcript variants have been isolated from both tumor and normal tissues. |
SP Function: inhibits p53- and p73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. functions as a ubiquitin ligase e3, in the presence of e1 and e2, toward p53 and itself. permits the nuclear export of p53 and targets it for proteasome-mediated proteolysis. |
Gene Ontology:
biological process: molecular function: biological process: biological process: biological process: molecular function: molecular function: cellular component: cellular component: cellular component: cellular component: cellular component: molecular function: molecular function: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: Tumor Suppressor Arf Inhibits Ribosomal Biogenesis 3: ATM Signaling Pathway 4: CTCF: First Multivalent Nuclear Factor 5: Cell Cycle: G2/M Checkpoint 6: p53 Signaling Pathway 7: Hypoxia and p53 in the Cardiovascular system 8: Sumoylation by RanBP2 Regulates Transcriptional Repression |
KEGG Pathways: |
| Unique id : H004003_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. |
SP Function: fosb interacts with jun proteins enhancing their dna binding activity. |
Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways:
1: FOSB gene expression and drug abuse |
KEGG Pathways: |
| Unique id : H004086_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the E2F transcription factor protein family. E2F family members play a crucial role in control of the cell cycle and of the action of tumor suppressor proteins. They are also a target of the transforming proteins of small DNA tumor viruses. Many E2F proteins contain several evolutionarily conserved domains: a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. The encoded protein of this gene is atypical because it lacks the transactivation and tumor suppressor protein association domains. It contains a modular suppression domain and is an inhibitor of E2F-dependent transcription. The protein is part of a multimeric protein complex that contains a histone methyltransferase and the transcription factors Mga and Max. Multiple transcript variants encoding several different isoforms have been found for this gene. |
SP Function: inhibitor of e2f-dependent transcription. binds dna cooperatively with DP proteins through the e2 recognition site, 5′-tttc[cg]cgc-3′. has a preference for the 5′-tttcccgc-3′ e2f recognition site. e2f-6 lacks the transcriptional activation and pocket protein binding domains. appears to regulate a subset of e2f-dependent genes whose products are required for entry into the cell cycle but not for normal cell cycle progression. may silence expression via the recruitment of a chromatin remodeling complex containing histone h3-k9 methyltransferase activity. overexpression delays the exit of cells from the s-phase. |
Gene Ontology:
biological process: molecular function: cellular component: biological process: biological process: molecular function: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004838_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: involved in transcriptional regulation. represses the transcription of a number of genes including gastrin and ornithine decarboxylase. binds to the g-rich box in the enhancer region of these genes. |
Gene Ontology:
molecular function: cellular component: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000048_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The tumor suppressor WT1 represses and activates transcription. The protein encoded by this gene is a WT1-interacting protein that itself functions as a transcriptional repressor. It contains a putative leucine zipper domain which interacts with the zinc finger DNA binding domain of WT1. This protein is specifically upregulated during apoptosis of prostate cells. |
SP Function: | Gene Ontology:
biological process: cellular component: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000549_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: transcriptional repressor of c-myc and thymidine kinase promoters (by similarity). transcriptional activator of the dopamine transporter (dat), binding it’s promoter at the consensus sequence 5′-cctgcacagttcacgga-3′. |
Gene Ontology:
molecular function: biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007076_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Two transcript variants encoding different isoforms have been found for this gene. |
SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007145_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: may function as a transcription factor. |
Gene Ontology:
molecular function: molecular function: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007210_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene product is a likely zinc finger family transcription factor. It contains KRAB-A and KRAB-B domains that act as transcriptional repressors in related proteins, and multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. This gene is part of a gene cluster on chromosome Xp11.23. |
SP Function: may be involved in transcriptional regulation. |
Gene Ontology:
biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000651_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. |
SP Function: transcriptional repressor. binds with max to form a sequence-specific dna-binding protein complex which recognizes the core sequence cac[ga]tg. antagonizes myc transcriptional activity by competing for max (by similarity). |
Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013140_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: biological process: molecular function: cellular component: cellular component: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013229_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Homeobox-containing genes play critical roles in regulating tissue-specific gene expression essential for tissue differentiation, as well as determining the temporal and spatial patterns of development (Shiojima et al., 1995 [PubMed 7665173]). It has been demonstrated that a Drosophila homeobox-containing gene called ‘tinman’ is expressed in the developing dorsal vessel and in the equivalent of the vertebrate heart. Mutations in tinman result in loss of heart formation in the embryo, suggesting that tinman is essential for Drosophila heart formation. Furthermore, abundant expression of Csx, the presumptive mouse homolog of tinman, is observed only in the heart from the time of cardiac differentiation. CSX, the human homolog of murine Csx, has a homeodomain sequence identical to that of Csx and is expressed only in the heart, again suggesting that CSX plays an important role in human heart formation.[supplied by OMIM] |
SP Function: implicated in commitment to and/or differentiation of the myocardial lineage (by similarity). |
Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways:
1: ALK in cardiac myocytes |
KEGG Pathways: |
| Unique id : H016601_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporadic cases of neural tube defects. |
SP Function: transcriptional repressor. involved in the generation and migration of neural crest cells. |
Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000147_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and eight variants, encoding four distinct isoforms, are described. |
SP Function: binds to a retinoid x receptor (rxr) responsive element from the cellular retinol-binding protein ii promoter (crbpii- rxre). inhibits the 9-cis-retinoic acid-dependent rxr alpha transcription activation of the retinoic acid responsive element. active transcriptional corepressor of smad2. links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. may participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the rxr alpha activities. |
Gene Ontology:
biological process: biological process: cellular component: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001593_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: cellular component: biological process: molecular function: molecular function: molecular function: biological process: biological process: biological process: biological process: molecular function: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001620_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: cellular component: molecular function: molecular function: molecular function: molecular function: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001680_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: molecular function: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002027_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown to be a receptor for prostacyclin. Prostacyclin, the major product of cyclooxygenase in macrovascular endothelium, elicits a potent vasodilation and inhibition of platelet aggregation through binding to this receptor. |
SP Function: receptor for prostacyclin (prostaglandin i2 or pgi2). the activity of this receptor is mediated by g(s) proteins which activate adenylate cyclase. |
Gene Ontology:
biological process: biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Eicosanoid Metabolism |
KEGG Pathways: |
| Unique id : H002088_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. |
SP Function: receptor for prostaglandin e2 (pge2). the activity of this receptor is mediated by g(s) proteins that stimulate adenylate cyclase. has a relaxing effect on smooth muscle. may play an important role in regulating renal hemodynamics, intestinal epithelial transport, adrenal aldosterone secretion, and uterine function. |
Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways:
1: Eicosanoid Metabolism |
KEGG Pathways: |
| Unique id : H002097_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. |
SP Function: this is one of the five types (d1 to d5) of receptors for dopamine. the activity of this receptor is mediated by g proteins which inhibit adenylyl cyclase. |
Gene Ontology:
molecular function: biological process: cellular component: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Regulation of ck1/cdk5 by type 1 glutamate receptors |
KEGG Pathways: |
| Unique id : H002175_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: receptor for grf, coupled to g proteins which activate adenylyl cyclase. stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion. |
Gene Ontology:
molecular function: molecular function: biological process: biological process: biological process: molecular function: cellular component: cellular component: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002271_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: molecular function: biological process: biological process: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002346_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002347_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002377_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: cellular component: cellular component: biological process: cellular component: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002384_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: endothelins are endothelium-derived vasoconstrictor peptides. |
Gene Ontology:
biological process: cellular component: molecular function: biological process: biological process: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002487_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002494_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. |
SP Function: this alpha-adrenergic receptor mediates its action by association with g proteins that activate a phosphatidylinositol- calcium second messenger system. |
Gene Ontology:
biological process: biological process: molecular function: molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways:
1: Phospholipase C d1 in phospholipid associated cell signaling |
KEGG Pathways: |
| Unique id : H002567_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: receptor for thyrotropin. plays a central role in controlling thyroid cell metabolism. the activity of this receptor is mediated by g proteins which activate adenylate cyclase. also acts as a receptor for thyrostimulin (gpa2+gpb5). |
Gene Ontology:
biological process: biological process: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002592_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: cellular component: biological process: cellular component: cellular component: cellular component: molecular function: molecular function: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002677_01 Name: Gene Symbol: Locus Link: Chromosome: |
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. |
SP Function: receptor for glutamate. the activity of this receptor is mediated by a g-protein that inhibits adenylate cyclase activity. |
Gene Ontology:
biological process: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002698_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The ADRB3 gene product, beta-3-adrenergic receptor, is located mainly in adipose tissue and is involved in the regulation of lipolysis and thermogenesis. Beta adrenergic receptors are involved in the epinephrine and norepinephrine-induced activation of adenylate cyclase through the action of G proteins. |
SP Function: beta-adrenergic receptors mediate the catecholamine- induced activation of adenylate cyclase through the action of g proteins. beta-3 is involved in the regulation of lipolysis and thermogenesis. |
Gene Ontology:
biological process: molecular function: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002750_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: npy is implicated in the control of feeding and in secretion of gonadotrophin-release hormone. |
Gene Ontology:
molecular function: biological process: molecular function: biological process: cellular component: biological process: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002797_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: There are 3 types of adenosine receptors, each of which contains 7 transmembrane domains and interacts with G proteins. The A1 receptors inhibit adenylate cyclase while the type A2 receptors stimulate activity. Each adenosine receptor has a specific pattern of ligand binding and a unique tissue distribution. Adenosine released during cardiac ischemia exerts a potent, protective effect in the heart. The adenosine A3 receptor is expressed on cardiac ventricular cells, and its activation protects the ventricular heart cell against injury during a subsequent exposure to ischemia. |
SP Function: receptor for adenosine. the activity of this receptor is mediated by g proteins which inhibits adenylyl cyclase. possible role in reproduction. |
Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002801_01 Name: Gene Symbol: Locus Link: Chromosome: |
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 inhibits adenylate cyclase activity. |
Gene Ontology:
biological process: cellular component: molecular function: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002813_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: cellular component: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002926_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The corticotropin-releasing hormone receptor binds to corticotropin-releasing hormone (MIM 122560), a potent mediator of endocrine, autonomic, behavioral, and immune responses to stress.[supplied by OMIM] |
SP Function: this is a receptor for corticotropin releasing factor. shows high-affinity crf binding. the activity of this receptor is mediated by g proteins which activate adenylyl cyclase. |
Gene Ontology:
molecular function: biological process: biological process: biological process: molecular function: biological process: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002944_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: biological process: molecular function: biological process: cellular component: biological process: biological process: molecular function: biological process: biological process: biological process: biological process: molecular function: biological process: biological process: cellular component: |
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 : H003007_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: molecular function: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003130_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: cellular component: biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003343_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: cellular component: biological process: biological process: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003381_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an integral membrane protein that is readily detectable and localized to two specific regions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. |
SP Function: high affinity receptor for melatonin. likely to mediates the reproductive and circadian actions of melatonin. the activity of this receptor is mediated by pertussis toxin sensitive g proteins that inhibit adenylate cyclase activity. |
Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003424_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: |
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 : H003481_01 Name: Gene Symbol: Locus Link: Chromosome: |
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. |
SP Function: receptor for glutamate. the activity of this receptor is mediated by a g-protein that inhibits adenylate cyclase activity. may mediate suppression of neurotransmission or may be involved in synaptogenesis or synaptic stabilization. |
Gene Ontology:
biological process: cellular component: cellular component: molecular function: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003535_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: cellular component: biological process: biological process: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003668_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003670_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. |
SP Function: beta-adrenergic receptors mediate the catecholamine- induced activation of adenylate cyclase through the action of g proteins. this receptor binds epinephrine and norepinephrine with approximatively equal affinity. |
Gene Ontology:
biological process: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003745_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003869_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: cellular component: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003899_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Selective expression of chemokine receptors during T-cell polarization |
KEGG Pathways: |
| Unique id : H003900_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. |
SP Function: | Gene Ontology:
biological process: biological process: biological process: molecular function: molecular function: cellular component: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004053_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: cellular component: molecular function: biological process: biological process: molecular function: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004080_01 Name: Gene Symbol: Locus Link: Chromosome: |
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. Histamine receptor H3 belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and can regulate neurotransmitter release. This receptor can also increase voltage-dependent calcium current in smooth muscles and innervates the blood vessels and the heart in cardiovascular system. |
SP Function: the h3 subclass of histamine receptors could mediate the histamine signals in cns and peripheral nervous system. signals through the inhibition of adenylate cyclase and displays high constitutive activity (spontaneous activity in the absence of agonist). agonist stimulation of isoform 3 neither modified adenylate cyclase activity nor induced intracellular calcium mobilization. |
Gene Ontology:
biological process: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004099_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: cellular component: cellular component: biological process: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004486_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000464_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Defects in this gene could be the cause of some lung and colon cancers. At least two transcript variants encoding different isoforms have been found for this gene. |
SP Function: the pr65 subunit of protein phosphatase 2a serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory b subunit. |
Gene Ontology:
biological process: molecular function: biological process: cellular component: biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: cellular component: molecular function: biological process: molecular function: biological process: molecular function: molecular function: cellular component: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004696_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Seven transcript variants encoding six distinct isoforms have been identified for this gene. Additional splice variants have been described but their full-length nature has not been determined. The identified isoforms exhibit a distinct ability to undergo autophosphorylation and to phosphorylate the downstream kinases. |
SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: molecular function: molecular function: molecular function: molecular function: biological process: biological process: molecular function: molecular function: cellular component: cellular component: biological process: biological process: biological process: molecular function: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Ca++/ Calmodulin-dependent Protein Kinase Activation |
KEGG Pathways: |
| Unique id : H004890_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: molecular function: biological process: molecular function: molecular function: cellular component: cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways:
1: MAP Kinase Signaling Pathway 2: p38 MAPK Signaling Pathway |
KEGG Pathways: |
| Unique id : H005413_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005417_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: molecular function: molecular function: biological process: cellular component: cellular component: cellular component: biological process: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005429_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. the g(i) proteins are involved in hormonal regulation of adenylate cyclase: they inhibit the cyclase in response to beta-adrenergic stimuli. |
Gene Ontology:
biological process: biological process: molecular function: molecular function: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006279_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: cellular component: biological process: biological process: biological process: biological process: molecular function: molecular function: biological process: biological process: molecular function: molecular function: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: biological process: biological process: cellular component: cellular component: biological process: biological process: molecular function: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006300_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: molecular function: cellular component: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006522_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene has a highly complex imprinted expression pattern. It encodes maternally, paternally, and biallelically expressed proteins which are derived from alternatively spliced transcripts with alternate 5′ exons. Each of the upstream exons is within a differentially methylated region, commonly found in imprinted genes. However, the close proximity (14 kb) of two oppositely expressed promoter regions is unusual. In addition, one of the alternate 5′ exons introduces a frameshift relative to the other transcripts, resulting in one isoform which is structurally unrelated to the others. An antisense transcript exists, and may regulate imprinting in this region. Mutations in this gene result in pseudohypoparathyroidism type 1a (PHP1a), which has an atypical autosomal dominant inheritance pattern requiring maternal transmission for full penetrance. There are RefSeqs representing four transcript variants of this gene. Other transcript variants including four additional exons have been described; however, their full length sequences have not been determined. |
SP Function: | Gene Ontology:
biological process: biological process: molecular function: molecular function: molecular function: biological process: cellular component: cellular component: cellular component: biological process: biological process: molecular function: biological process: biological process: |
BioCarta Pathways:
1: CCR3 signaling in Eosinophils 2: Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor 3: Attenuation of GPCR Signaling 4: Roles of �-arrestin-dependent Recruitment of Src Kinases in GPCR Signaling 5: �-arrestins in GPCR Desensitization 6: Role of �-arrestins in the activation and targeting of MAP kinases 7: Cystic fibrosis transmembrane conductance regulator (CFTR) and beta 2 adrenergic receptor (b2AR) pathway 8: ChREBP regulation by carbohydrates and cAMP 9: Transcription factor CREB and its extracellular signals 10: Regulation of Spermatogenesis by CREM 11: Erk1/Erk2 Mapk Signaling pathway 12: Corticosteroids and cardioprotection 13: Signaling Pathway from G-Protein Families 14: Activation of cAMP-dependent protein kinase, PKA 15: How Progesterone Initiates the Oocyte Maturation 16: Phospholipase C-epsilon pathway 17: Ion Channels and Their Functional Role in Vascular Endothelium |
KEGG Pathways: |
| Unique id : H000632_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: guanine nucleotide-binding proteins (g proteins) are involved as modulators or transducers in various transmembrane signaling systems. g(k) is the stimulatory g protein of receptor- regulated k(+) channels. |
Gene Ontology:
biological process: molecular function: molecular function: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000653_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian central nervous system. GABA exerts its effects through ionotropic [GABA(A/C)] receptors, to produce fast synaptic inhibition, and metabotropic [GABA(B)] receptors, to produce slow, prolonged inhibitory signals. The GABA(B) receptor consists of a heterodimer of two related 7-transmembrane receptors, GABA(B) receptor 1 and GABA(B) receptor 2. The GABA(B) receptor 1 gene is mapped to chromosome 6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have also been mapped in this region. Alternative splicing of this gene generates 4 transcript variants. |
SP Function: the light-harvesting complex (lhc) functions as a light receptor, it captures and delivers excitation energy to photosystems with which it is closely associated. the n-terminus of the protein extends into the stroma where it is involved with adhesion of granal membranes and photoregulated by reversible phosphorylation of its threonine residues; both are believed to mediate the distribution of excitation energy between photosystems i and ii. |
Gene Ontology:
molecular function: biological process: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007945_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene is a neuropeptide with strong structural similarity to somatostatin. It binds to all known somatostatin receptors, and shares many pharmacological and functional properties with somatostatin, including the depression of neuronal activity. However, it also has many properties distinct from somatostatin, such as induction of slow-wave sleep, apparently by antagonism of the excitatory effects of acetylcholine on the cortex, reduction of locomotor activity, and activation of cation selective currents not responsive to somatostatin. |
SP Function: binds to all human somatostatin receptor (sstr) subtypes. it also inhibits camp production induced by forskolin through sstrs. |
Gene Ontology:
molecular function: biological process: molecular function: cellular component: molecular function: molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008522_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: B-type receptors for the neurotransmitter GABA (gamma-aminobutyric acid) inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters and the activity of ion channels and adenylyl cyclase. See GABBR1 (MIM 603540) for additional background information on GABA-B receptors.[supplied by OMIM] |
SP Function: receptor for gaba. the activity of this receptor is mediated by g-proteins that inhibit adenylyl cyclase activity, stimulates phospholipase a2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipids hydrolysis. plays a critical role in the fine-tuning of inhibitory synaptic transmission. pre-synaptic gaba-b-r inhibit neurotransmitter release by down-regulating high- voltage activated calcium channels, whereas postsynaptic gaba-b-r decrease neuronal excitability by activating a prominent inwardly rectifying potassium (kir) conductance that underlies the late inhibitory postsynaptic potentials. not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception. |
Gene Ontology:
biological process: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009013_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. |
SP Function: this is one of the five types (d1 to d5) of receptors for dopamine. the activity of this receptor is mediated by g proteins which inhibit adenylyl cyclase. |
Gene Ontology:
molecular function: biological process: cellular component: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Regulation of ck1/cdk5 by type 1 glutamate receptors |
KEGG Pathways: |
| Unique id : H010976_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: molecular function: biological process: cellular component: biological process: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways:
1: fMLP induced chemokine gene expression in HMC-1 cells |
KEGG Pathways: |
| Unique id : H011336_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: molecular function: biological process: cellular component: cellular component: biological process: cellular component: biological process: molecular function: biological process: |
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 : H012371_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: receptor for thyrotropin. plays a central role in controlling thyroid cell metabolism. the activity of this receptor is mediated by g proteins which activate adenylate cyclase. also acts as a receptor for thyrostimulin (gpa2+gpb5). |
Gene Ontology:
biological process: biological process: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012765_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: biological process: biological process: biological process: molecular function: molecular function: cellular component: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012873_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. |
SP Function: may have a regulatory bifunctional role. |
Gene Ontology:
biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013009_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. |
SP Function: | Gene Ontology:
biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013869_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014374_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation.[supplied by OMIM] |
SP Function: | Gene Ontology:
biological process: cellular component: molecular function: molecular function: biological process: cellular component: biological process: molecular function: molecular function: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015053_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: molecular function: molecular function: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015524_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: There are 3 types of adenosine receptors, each of which contains 7 transmembrane domains and interacts with G proteins. The A1 receptors inhibit adenylate cyclase while the type A2 receptors stimulate activity. Each adenosine receptor has a specific pattern of ligand binding and a unique tissue distribution. Adenosine released during cardiac ischemia exerts a potent, protective effect in the heart. The adenosine A3 receptor is expressed on cardiac ventricular cells, and its activation protects the ventricular heart cell against injury during a subsequent exposure to ischemia. |
SP Function: receptor for adenosine. the activity of this receptor is mediated by g proteins which inhibits adenylyl cyclase. possible role in reproduction. |
Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015734_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: cellular component: molecular function: molecular function: cellular component: molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015755_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways:
1: Selective expression of chemokine receptors during T-cell polarization |
KEGG Pathways: |
| Unique id : H016485_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: cellular component: molecular function: biological process: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways:
1: Phospholipids as signalling intermediaries |
KEGG Pathways: |
| Unique id : H001339_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. |
SP Function: inhibits signal transduction by increasing the gtpase activity of g protein alpha subunits thereby driving them into their inactive gdp-bound form. this protein may be involved in the regulation of b-cell activation and proliferation. |
Gene Ontology:
biological process: biological process: molecular function: molecular function: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001616_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Soluble guanylate cyclase (sGC), a heterodimeric protein consisting of an alpha and a beta subunit, catalyzes the conversion of GTP to the second messenger cGMP and functions as the main receptor for nitric oxide and nitrovasodilator drugs (Zabel et al., 1998 [PubMed 9742212]).[supplied by OMIM] |
SP Function: | Gene Ontology:
biological process: biological process: cellular component: molecular function: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001698_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase (AMPK), which transduces the signal through phosphorylation of different target proteins. The inactive holoenzyme of AMPK is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits of AMPK have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of AMPK. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). |
SP Function: type ii regulatory chains mediate membrane association by binding to anchoring proteins, including the map2 kinase. |
Gene Ontology:
molecular function: cellular component: molecular function: molecular function: cellular component: biological process: molecular function: cellular component: cellular component: biological process: biological process: |
BioCarta Pathways:
1: Rho-Selective Guanine Exchange Factor AKAP13 Mediates Stress Fiber Formation 2: AKAP95 role in mitosis and chromosome dynamics 3: Protein Kinase A at the Centrosome |
KEGG Pathways: |
| Unique id : H001703_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B72/B130 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. |
SP Function: the b regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. |
Gene Ontology:
molecular function: molecular function: biological process: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001704_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. |
SP Function: the b regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. |
Gene Ontology:
cellular component: molecular function: cellular component: cellular component: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001923_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: cellular component: molecular function: molecular function: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001979_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: calcium-dependent, calmodulin-stimulated protein phosphatase. this subunit may have a role in the calmodulin activation of calcineurin. |
Gene Ontology:
cellular component: molecular function: molecular function: molecular function: molecular function: biological process: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002041_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase (AMPK), which transduces the signal through phosphorylation of different target proteins. The inactive holoenzyme of AMPK is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits of AMPK have been identified in humans. The protein encoded by this gene is a member of the Ser/Thr protein kinase family and is a catalytic subunit of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. |
SP Function: phosphorylates a large number of substrates in the cytoplasm and the nucleus. |
Gene Ontology:
molecular function: molecular function: cellular component: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Rho-Selective Guanine Exchange Factor AKAP13 Mediates Stress Fiber Formation 2: AKAP95 role in mitosis and chromosome dynamics 3: Protein Kinase A at the Centrosome 4: Activation of cAMP-dependent protein kinase, PKA |
KEGG Pathways: |
| Unique id : H002064_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. |
Gene Ontology:
molecular function: cellular component: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002140_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: molecular function: cellular component: molecular function: molecular function: biological process: biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: biological process: biological process: molecular function: molecular function: molecular function: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002298_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependent DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. |
SP Function: single stranded dna-dependent atp-dependent helicase. has a role in chromosome translocation. the dna helicase ii complex binds preferentially to fork-like ends of double-stranded dna in a cell cycle-dependent manner. it works in the 3′-5′ direction. binding to dna may be mediated by p70. involved in dna nonhomologous end joining (nhej) required for double-strand break repair and v(d)j recombination. the ku p70/p86 dimer acts as regulatory subunit of the dna-dependent protein kinase complex dna-pk by increasing the affinity of the catalytic subunit prkdc to dna by 100-fold. the ku p70/p86 dimer is probably involved in stabilizing broken dna ends and bringing them together. the assembly of the dna-pk complex to dna ends is required for the nhej ligation step. |
Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: molecular function: cellular component: biological process: |
BioCarta Pathways:
1: Telomeres, Telomerase, Cellular Aging, and Immortality |
KEGG Pathways: |
| Unique id : H002713_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The PLA2G7 gene encodes platelet-activating factor (PAF) acetylhydrolase (EC 3.1.1.47), a secreted enzyme that catalyzes the degradation of PAF to inactive products by hydrolysis of the acetyl group at the sn-2 position, producing the biologically inactive products LYSO-PAF and acetate.[supplied by OMIM] |
SP Function: modulates the action of platelet-activating factor (paf) by hydrolyzing the sn-2 ester bond to yield the biologically inactive lyso-paf. has a specificity for substrates with a short residue at the sn-2 position. it is inactive against long-chain phospholipids. |
Gene Ontology:
molecular function: cellular component: cellular component: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002974_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. |
SP Function: dephosphorylates and concomitantly deactivates cam- kinase ii activated upon autophosphorylation, and cam-kinases iv and i activated upon phosphorylation by cam-kinase kinase. promotes apoptosis. |
Gene Ontology:
biological process: molecular function: molecular function: molecular function: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003020_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding two distinct isoforms have been described. |
SP Function: enzyme with a broad specificity. |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003263_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003578_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Calmodulin-dependent protein phosphatase, calcineurin, is involved in a wide range of biologic activities, acting as a Ca(2+)-dependent modifier of phosphorylation status. In testis, the motility of the sperm is thought to be controlled by cAMP-dependent phosphorylation and a unique form of calcineurin appears to be associated with the flagellum. The calcineurin holoenzyme is composed of catalytic and regulatory subunits of 60 and 18 kD, respectively. At least 3 genes, calcineurin A-alpha (CALNA1; MIM 114105), calcineurin A-beta (CALNA2; MIM 114106), and calcineurin A-gamma (CALNA3), have been cloned for the catalytic subunit. These genes have been identified in humans, mice, and rats, and are highly conserved between species (90 to 95% amino acid identity).[supplied by OMIM] |
SP Function: calcium-dependent, calmodulin-stimulated protein phosphatase. this subunit may have a role in the calmodulin activation of calcineurin. |
Gene Ontology:
cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003642_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing factors, which is important for the formation of functional spliceosome. Studies of a similar gene in mice suggested a role of this phosphatase in regulating cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. |
SP Function: | Gene Ontology:
biological process: molecular function: molecular function: molecular function: cellular component: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003807_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes and is composed of 24 subunits of the heavy and light ferritin subunits. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble, nontoxic state and defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. While multiple transcript variants may exist for this gene the full-length nature of only one has been described to date. |
SP Function: ferritin is an intracellular molecule that stores iron in a soluble, nontoxic, readily available form. the functional molecule, which is composed of 24 chains, is roughly spherical and contains a central cavity into which the polymeric ferric iron core is deposited. |
Gene Ontology:
molecular function: biological process: molecular function: cellular component: biological process: biological process: biological process: molecular function: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000464_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Defects in this gene could be the cause of some lung and colon cancers. At least two transcript variants encoding different isoforms have been found for this gene. |
SP Function: the pr65 subunit of protein phosphatase 2a serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory b subunit. |
Gene Ontology:
biological process: molecular function: biological process: cellular component: biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: cellular component: molecular function: biological process: molecular function: biological process: molecular function: molecular function: cellular component: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005412_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. |
SP Function: the b regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. |
Gene Ontology:
biological process: cellular component: molecular function: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005714_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: cellular component: biological process: molecular function: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006248_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006260_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Protein phosphatase 2A (PP2A) is a heterotrimeric serine/threonine phosphatase implicated in many cellular processes. The core enzyme of PP2A comprises a catalytic subunit (C) and a constant regulatory subunit (A). The core enzyme associates with one of three B regulatory subunits, which are encoded by different genes. The B subunits are thought to determine the substrate specificity and the subcellular localization of the enzyme. The protein encoded by this gene is one of the B regulatory subunits of PP2A. This protein can bind CDC6, a protein involved in the initiation of DNA replication and cell cycle control. Overexpression of this gene has been shown to cause a cell cycle G1 arrest. |
SP Function: | Gene Ontology:
biological process: molecular function: biological process: cellular component: molecular function: biological process: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways:
1: AKAP95 role in mitosis and chromosome dynamics 2: Protein Kinase A at the Centrosome 3: AKT Signaling Pathway 4: ChREBP regulation by carbohydrates and cAMP 5: Regulation of ck1/cdk5 by type 1 glutamate receptors 6: CTCF: First Multivalent Nuclear Factor 7: Erk1/Erk2 Mapk Signaling pathway 8: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 9: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway 10: Keratinocyte Differentiation 11: mTOR Signaling Pathway 12: Deregulation of CDK5 in Alzheimer’s Disease 13: Telomeres, Telomerase, Cellular Aging, and Immortality 14: WNT Signaling Pathway |
KEGG Pathways:
asso |
| Unique id : H000576_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: molecular function: molecular function: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006644_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000599_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. |
SP Function: might contribute to growth inhibitory pathways activated in response to dna damage in a p53-dependent manner. |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: cellular component: biological process: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000617_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. |
SP Function: the b regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. |
Gene Ontology:
cellular component: molecular function: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000644_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B56 subfamily. |
SP Function: the b regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. |
Gene Ontology:
cellular component: molecular function: molecular function: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000645_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase (AMPK), which transduces the signal through phosphorylation of different target proteins. The inactive holoenzyme of AMPK is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits of AMPK have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Functional null mutations in this gene cause Carney complex (CNC), an autosomal dominant multiple neoplasia syndrome. This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. Three alternatively spliced transcript variants encoding the same protein have been observed. |
SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: biological process: biological process: biological process: |
BioCarta Pathways:
1: Activation of cAMP-dependent protein kinase, PKA |
KEGG Pathways: |
| Unique id : H000679_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: biological process: biological process: biological process: biological process: molecular function: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000682_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: molecular function: biological process: biological process: molecular function: molecular function: cellular component: cellular component: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008394_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Three alternatively spliced transcript variants encoding distinct isoforms have been described. |
SP Function: enzyme with a broad specificity. dephosphorylates cdk2 and cdk6 in vitro. |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008583_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Spinophilin is a regulatory subunit of protein phosphatase-1 catalytic subunit (PP1; see MIM 176875) and is highly enriched in dendritic spines, specialized protrusions from dendritic shafts that receive most of the excitatory input in the central nervous system.[supplied by OMIM] |
SP Function: | Gene Ontology:
biological process: biological process: cellular component: biological process: cellular component: molecular function: molecular function: molecular function: cellular component: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008675_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: biological process: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010455_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014726_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a protein similar to members of the protein phosphatase 2C (PP2C) family. Studies of the rat counterpart of this protein suggested that this protein may reside within the mitochondrial matrix space and be responsible for dephosphorylation and reactivation of the pyruvate dehydrogenase complex (PDC). |
SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: cellular component: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016451_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001658_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene is thought to encode a protein that regulates intracellular protein trafficking to and from the lysosome. Mutations in this gene cause Chediak-Higashi syndrome, a rare lysosomal storage disorder. Alternative splicing results in two transcript variants encoding different isoforms; additional splice variants have been described but their full-length nature has not been determined. |
SP Function: may be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules. |
Gene Ontology:
biological process: cellular component: biological process: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000261_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein. See MIM 603971 for general information on zinc finger proteins.[supplied by OMIM] |
SP Function: possible transcription factor. specifically binds to the CT/GC-rich region of the interleukin-3 promoter and mediates tax transactivation of il-3. |
Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002317_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: molecular function: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002366_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: biological process: cellular component: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002429_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: biological process: molecular function: biological process: biological process: cellular component: biological process: biological process: biological process: biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: biological process: biological process: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002476_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: biological process: biological process: biological process: biological process: biological process: molecular function: biological process: cellular component: biological process: cellular component: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002487_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002710_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: molecular function: biological process: cellular component: biological process: biological process: biological process: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: |
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 : H003130_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: cellular component: biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003284_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. |
SP Function: may act as a transcriptional activator/repressor in the myeloid lineage. plays a role in the granulocyte/monocyte cell- specific response to interferon. stimulates the dna binding of the transcriptional repressor protein yy1. |
Gene Ontology:
molecular function: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003360_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: accessory protein for mhc class-ii antigen/t-cell receptor interaction. may regulate t-cell activation. |
Gene Ontology:
molecular function: biological process: cellular component: biological process: biological process: molecular function: biological process: cellular component: cellular component: biological process: molecular function: biological process: |
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 : H003424_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: |
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 : H003616_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The CMRF35 antigen, which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes (Jackson et al., 1992 [PubMed 1349532]).[supplied by OMIM] |
SP Function: | Gene Ontology:
biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003672_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. |
SP Function: | Gene Ontology:
biological process: biological process: cellular component: biological process: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Bone Remodelling |
KEGG Pathways: |
| Unique id : H003675_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: biological process: molecular function: biological process: cellular component: molecular function: biological process: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003724_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. The protein encoded by this gene is a beta subunit. Six alternatively spliced variants have been found for this gene which encode five proteins with alternate carboxy termini. |
SP Function: integrins alpha-1/beta-1, alpha-2/beta-1, alpha-10/beta- 1 and alpha-11/beta-1 are receptors for collagen. integrins alpha- 1/beta-1 and alpha-2/beta-2 recognize the proline-hydroxylated sequence g-f-p-g-e-r in collagen. integrins alpha-2/beta-1, alpha- 3/beta-1, alpha-4/beta-1, alpha-5/beta-1, alpha-8/beta-1, alpha- 10/beta-1, alpha-11/beta-1 and alpha-v/beta-1 are receptors for fibronectin. alpha-4/beta-1 recognizes one or more domains within the alternatively spliced cs-1 and cs-5 regions of fibronectin. integrin alpha-5/beta-1 is a receptor for fibrinogen. integrin alpha-1/beta-1, alpha-2/beta-1, alpha-6/beta-1 and alpha-7/beta-1 are receptors for lamimin. integrin alpha-4/beta-1 is a receptor for vcam1. it recognizes the sequence q-i-d-s in vcam1. integrin alpha-9/beta-1 is a receptor for vcam1, cytotactin and osteopontin. it recognizes the sequence a-e-i-d-g-i-e-l in cytotactin. integrin alpha-3/beta-1 is a receptor for epiligrin and thrombospondin. integrin alpha-v/beta-1 is a receptor for vitronectin. beta-1 integrins recognize the sequence r-g-d in a wide array of ligands. isoform beta-1b interferes with isoform beta-1a resulting in a dominant negative effect on cell adhesion and migration (in vitro). |
Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: cellular component: cellular component: biological process: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Cells and Molecules involved in local acute inflammatory response 2: Agrin in Postsynaptic Differentiation 3: B Cell Survival Pathway 4: Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia 5: Eph Kinases and ephrins support platelet aggregation 6: Erk1/Erk2 Mapk Signaling pathway 7: Integrin Signaling Pathway 8: Adhesion and Diapedesis of Lymphocytes 9: Adhesion Molecules on Lymphocyte 10: mCalpain and friends in Cell motility 11: Signaling of Hepatocyte Growth Factor Receptor 12: Monocyte and its Surface Molecules 13: Ras-Independent pathway in NK cell-mediated cytotoxicity 14: PTEN dependent cell cycle arrest and apoptosis 15: Aspirin Blocks Signaling Pathway Involved in Platelet Activation 16: Trefoil Factors Initiate Mucosal Healing 17: uCalpain and friends in Cell spread |
KEGG Pathways: |
| Unique id : H004608_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: cellular component: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000514_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: NCF1 encodes neutrophil cytosolic factor 1, the 47-kilodalton cytosolic subunit of the multi-protein complex known as NADPH oxidase found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in NCF1, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease. |
SP Function: ncf2, ncf1, and a membrane bound cytochrome b558 are required for activation of the latent nadph oxidase (necessary for superoxide production). |
Gene Ontology:
molecular function: molecular function: biological process: cellular component: biological process: molecular function: biological process: molecular function: cellular component: biological process: |
BioCarta Pathways:
1: fMLP induced chemokine gene expression in HMC-1 cells |
KEGG Pathways: |
| Unique id : H006116_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The MD-2 protein appears to associate with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccharide (LPS), thus providing a link between the receptor and LPS signaling. |
SP Function: cooperates with tlr4 in the innate immune response to bacterial lipopolysaccharide (lps), and with tlr2 in the response to cell wall components from gram-positive and gram-negative bacteria. enhances tlr4-dependent activation of nf-kappa-b. cells expressing both md2 and tlr4, but not tlr4 alone, respond to lps. |
Gene Ontology:
biological process: biological process: biological process: molecular function: biological process: cellular component: |
BioCarta Pathways:
1: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 2: Toll-Like Receptor Pathway |
KEGG Pathways: |
| Unique id : H000596_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. |
SP Function: part of the proton channel of v-atpases (by similarity). seems to be directly involved in t cell activation. |
Gene Ontology:
biological process: molecular function: cellular component: cellular component: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways:
3: Type III Secretion System |
| Unique id : H000603_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Two alternative transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described, but their full-length nature has not been determined. |
SP Function: non-covalently associates with membrane glycoproteins of the killer-cell inhibitory receptor (kir) family without an itim in their cytoplasmic domain. crosslinking of kir-tyrobp complexes results in cellular activation. |
Gene Ontology:
biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000064_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009096_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: inhibitor of the slam self-association. acts by blocking recruitment of the sh2-domain-containing signal-transduction molecule shp-2 to a docking site in the slam cytoplasmic region. |
Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009838_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1. |
SP Function: | Gene Ontology:
biological process: biological process: cellular component: cellular component: cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010155_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a proinflammatory cytokine. This cytokine can induce the IFN-gamma production of T cells. The combination of this cytokine and IL12 has been shown to inhibit IL4 dependent IgE and IgG1 production, and enhance IgG2a production of B cells. IL-18 binding protein (IL18BP) can specifically interact with this cytokine, and thus negatively regulate its biological activity. |
SP Function: augments natural killer cell activity in spleen cells and stimulates interferon gamma production in t helper type i cells. |
Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: biological process: biological process: biological process: biological process: molecular function: biological process: biological process: biological process: biological process: molecular function: biological process: |
BioCarta Pathways:
1: IL12 and Stat4 Dependent Signaling Pathway in Th1 Development 2: Cytokine Network 3: IL 18 Signaling Pathway 4: Ras-Independent pathway in NK cell-mediated cytotoxicity 5: Th1/Th2 Differentiation |
KEGG Pathways: |
| Unique id : H000824_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene was identified by the induction of its expression in B lymphocytes by Epstein-Barr virus infection. The protein encoded by this gene is a secreted glycoprotein, which is a member of the hematopoietin receptor family related to the p40 subunit of interleukin 12 (IL-12). It might play a role in regulating cell-mediated immune responses. |
SP Function: | Gene Ontology:
biological process: molecular function: cellular component: molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010796_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: CD160 is an 27 kDa glycoprotein which was initially identified with the monoclonal antibody BY55. Its expression is tightly associated with peripheral blood NK cells and CD8 T lymphocytes with cytolytic effector activity. The cDNA sequence of CD160 predicts a cysteine-rich, glycosylphosphatidylinositol-anchored protein of 181 amino acids with a single Ig-like domain weakly homologous to KIR2DL4 molecule. CD160 is expressed at the cell surface as a tightly disulfide-linked multimer. RNA blot analysis revealed CD160 mRNAs of 1.5 and 1.6 kb whose expression was highly restricted to circulating NK and T cells, spleen and small intestine. Within NK cells CD160 is expressed by CD56dimCD16+ cells whereas among circulating T cells its expression is mainly restricted to TCRgd bearing cells and to TCRab+CD8brightCD95+CD56+CD28-CD27-cells. In tissues, CD160 is expressed on all intestinal intraepithelial lymphocytes. CD160 shows a broad specificity for binding to both classical and nonclassical MHC class I molecules. |
SP Function: | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H011710_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000984_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes for uromodulin, the most abundant protein in normal urine. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. Uromodulin may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of uromodulin in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the autosomal dominant renal disorders medullary cystic kidney disease-2 (MCKD2) and familial juvenile hyperuricemic nephropathy (FJHN). These disorders are characterized by juvenile onset of hyperuricemia, gout, and progressive renal failure. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same isoform. |
SP Function: not known. may play a role in regulating the circulating activity of cytokines as it binds to il-1, il-2 and tnf with high affinity. |
Gene Ontology:
molecular function: biological process: cellular component: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013140_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: biological process: molecular function: cellular component: cellular component: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015152_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the type I interferon family. Type I interferons are a group of related glycoproteins that play an important role in host defenses against viral infections. This protein is expressed in keratinocytes and the gene is found on chromosome 9, adjacent to the type I interferon cluster. |
SP Function: | Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: biological process: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016047_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: destroys radicals which are normally produced within the cells and which are toxic to biological systems. |
Gene Ontology:
biological process: biological process: molecular function: molecular function: molecular function: cellular component: molecular function: biological process: biological process: biological process: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Erythropoietin mediated neuroprotection through NF-kB |
KEGG Pathways: |
| Unique id : H001342_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: cellular component: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001679_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described. |
SP Function: may have a role in the recovery or adaptation response of photoreceptors. may have a role in development. |
Gene Ontology:
molecular function: molecular function: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001721_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: may play a role in the regulation of rna biogenesis and/or mitosis. in vitro, dephosphorylates serine residues of skeletal muscle phosphorylase and histone h1. |
Gene Ontology:
cellular component: molecular function: molecular function: biological process: cellular component: biological process: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001730_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001979_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: calcium-dependent, calmodulin-stimulated protein phosphatase. this subunit may have a role in the calmodulin activation of calcineurin. |
Gene Ontology:
cellular component: molecular function: molecular function: molecular function: molecular function: biological process: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002974_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. |
SP Function: dephosphorylates and concomitantly deactivates cam- kinase ii activated upon autophosphorylation, and cam-kinases iv and i activated upon phosphorylation by cam-kinase kinase. promotes apoptosis. |
Gene Ontology:
biological process: molecular function: molecular function: molecular function: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003020_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding two distinct isoforms have been described. |
SP Function: enzyme with a broad specificity. |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003642_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing factors, which is important for the formation of functional spliceosome. Studies of a similar gene in mice suggested a role of this phosphatase in regulating cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. |
SP Function: | Gene Ontology:
biological process: molecular function: molecular function: molecular function: cellular component: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000464_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Defects in this gene could be the cause of some lung and colon cancers. At least two transcript variants encoding different isoforms have been found for this gene. |
SP Function: the pr65 subunit of protein phosphatase 2a serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory b subunit. |
Gene Ontology:
biological process: molecular function: biological process: cellular component: biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: cellular component: molecular function: biological process: molecular function: biological process: molecular function: molecular function: cellular component: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005657_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Six alternatively spliced variants that encode six different isoforms have been characterized to date. Additional alternative splice variants that encode different isoforms have been described, but their full-length nature has not been determined. |
SP Function: cam-kinase ii (camk2) is a prominent kinase in the central nervous system that may function in long-term potentiation and neurotransmitter release. |
Gene Ontology:
molecular function: molecular function: molecular function: molecular function: molecular function: cellular component: biological process: molecular function: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Ca++/ Calmodulin-dependent Protein Kinase Activation 2: Bioactive Peptide Induced Signaling Pathway 3: Transcription factor CREB and its extracellular signals 4: Regulation of PGC-1a 5: Stathmin and breast cancer resistance to antimicrotubule agents |
KEGG Pathways: |
| Unique id : H006260_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Protein phosphatase 2A (PP2A) is a heterotrimeric serine/threonine phosphatase implicated in many cellular processes. The core enzyme of PP2A comprises a catalytic subunit (C) and a constant regulatory subunit (A). The core enzyme associates with one of three B regulatory subunits, which are encoded by different genes. The B subunits are thought to determine the substrate specificity and the subcellular localization of the enzyme. The protein encoded by this gene is one of the B regulatory subunits of PP2A. This protein can bind CDC6, a protein involved in the initiation of DNA replication and cell cycle control. Overexpression of this gene has been shown to cause a cell cycle G1 arrest. |
SP Function: | Gene Ontology:
biological process: molecular function: biological process: cellular component: molecular function: biological process: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways:
1: AKAP95 role in mitosis and chromosome dynamics 2: Protein Kinase A at the Centrosome 3: AKT Signaling Pathway 4: ChREBP regulation by carbohydrates and cAMP 5: Regulation of ck1/cdk5 by type 1 glutamate receptors 6: CTCF: First Multivalent Nuclear Factor 7: Erk1/Erk2 Mapk Signaling pathway 8: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 9: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway 10: Keratinocyte Differentiation 11: mTOR Signaling Pathway 12: Deregulation of CDK5 in Alzheimer’s Disease 13: Telomeres, Telomerase, Cellular Aging, and Immortality 14: WNT Signaling Pathway |
KEGG Pathways: |
| Unique id : H000599_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. |
SP Function: might contribute to growth inhibitory pathways activated in response to dna damage in a p53-dependent manner. |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: cellular component: biological process: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000609_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Alternatively spliced transcript variants encoding different isoforms have been described. |
SP Function: may play a role in phototransduction. may dephosphorylate photoactivated rhodopsin. may function as a calcium sensing regulator of ionic currents, energy production or synaptic transmission. |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007609_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Protein phosphatase-1 (PP1; see MIM 176875) participates in the regulation of a wide variety of cellular functions by reversible protein phosphorylation. The ability of PP1 to regulate diverse functions resides in its capacity to interact with a variety of regulatory subunits that may target PP1 to specific subcellular locations, modulate its substrate specificity, and allow its activity to be responsive to extracellular signals. Several targeting subunits of PP1 have been identified, including PPP1R5, the glycogen-binding subunits PPP1R3 (MIM 600917) and PPP1R4, and the nuclear inhibitor of PP1 (PPP1R8; MIM 602636).[supplied by OMIM] |
SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008394_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Three alternatively spliced transcript variants encoding distinct isoforms have been described. |
SP Function: enzyme with a broad specificity. dephosphorylates cdk2 and cdk6 in vitro. |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008575_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: may function in cell cycle regulation. |
Gene Ontology:
biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010455_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014726_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a protein similar to members of the protein phosphatase 2C (PP2C) family. Studies of the rat counterpart of this protein suggested that this protein may reside within the mitochondrial matrix space and be responsible for dephosphorylation and reactivation of the pyruvate dehydrogenase complex (PDC). |
SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: cellular component: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001357_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene is a member of a gene family that encodes tyrosine phosphatases. Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. |
SP Function: dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. could be involved in a signal transduction pathway necessary for late myogenesis, although its ubiquitous expression suggests a wider function. |
Gene Ontology:
biological process: cellular component: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001495_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001724_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: POU4F2 is a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. A class IV POU-domain protein, POU4F2 is found in human retina exclusively within a subpopulation of ganglion cells where it may play a role in determining or maintaining the identities of a small subset of visual system neurons.[supplied by OMIM] |
SP Function: may play a role in determining or maintaining the identities of a small subset of visual system neurons. |
Gene Ontology:
biological process: biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001878_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes one of three enolase isoenzymes found in mammals; it encodes alpha-enolase, a homodimeric soluble enzyme, and also encodes a shorter monomeric structural lens protein, tau-crystallin. The two proteins are made from the same message. The full length protein, the isoenzyme, is found in the cytoplasm. The shorter protein is produced from an alternative translation start, is localized to the nucleus, and has been found to bind to an element in the c-myc promoter. A pseudogene has been identified that is located on the other arm of the same chromosome. |
SP Function: | Gene Ontology:
biological process: molecular function: molecular function: biological process: biological process: cellular component: molecular function: molecular function: cellular component: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: Glycolysis Pathway |
KEGG Pathways: |
| Unique id : H000255_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: may be involved in transcriptional regulation as a weak repressor when alone, or a potent one when fused with a heterologous protein containing a krab b-domain. |
Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002125_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: DNA (cytosine-5-)-methyltransferase 1 has a role in the establishment and regulation of tissue-specific patterns of methylated cytosine residues. Aberrant methylation patterns are associated with certain human tumors and developmental abnormalities. |
SP Function: methylates cpg residues. preferentially methylates hemimethylated DNA. it is responsible for maintaining methylation patterns established in development. mediates transcriptional repression by direct binding to hdac2. |
Gene Ontology:
molecular function: molecular function: biological process: molecular function: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000272_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: transcriptional factor. activates the epsilon- and gamma-globin gene promoters and, to a much lower degree, the beta- globin gene and represses promoters containing sp1-like binding sites inhibiting cell growth. |
Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000280_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: transcriptional repressor. |
Gene Ontology:
biological process: cellular component: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002623_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The human MDM4 gene, which plays a role in apoptosis, encodes a 490-amino acid protein containing a RING finger domain and a putative nuclear localization signal. The MDM4 putative nuclear localization signal, which all Mdm proteins contain, is located in the C-terminal region of the protein. The mRNA is expressed at a high level in thymus and at lower levels in all other tissues tested. MDM4 protein produced by in vitro translation interacts with p53 via a binding domain located in the N-terminal region of the MDM4 protein. MDM4 shows significant structural similarity to p53-binding protein MDM2 |
SP Function: inhibits p53- and p73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. inhibits degradation of mdm2. can reverse mdm2-targeted degradation of p53 while maintaining suppression of p53 transactivation and apoptotic functions. |
Gene Ontology:
biological process: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: biological process: biological process: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002964_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of START-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Two alternatively spliced transcript variants that encode the identical protein have been reported for this gene. |
SP Function: transcriptional regulator that probably plays an important role in lymphomagenesis. |
Gene Ontology:
biological process: biological process: cellular component: biological process: cellular component: biological process: molecular function: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000352_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: may function as a transcription factor. |
Gene Ontology:
biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003112_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression (‘cure’) occurs in some cases.[supplied by OMIM] |
SP Function: probably acts as a regulator of other genes. forms a complex with adenovirus e1a and with sv40 large t antigen. acts as a tumor suppressor. may bind and modulate functionally certain cellular proteins with which t and e1a compete for pocket binding. potent inhibitor of e2f-mediated trans-activation. recruits and targets histone methyltransferase suv39h1 leading to epigenetic transcriptional repression. inhibits the intrinsic kinase activity of taf1. |
Gene Ontology:
biological process: cellular component: biological process: biological process: cellular component: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: Influence of Ras and Rho proteins on G1 to S Transition 3: Tumor Suppressor Arf Inhibits Ribosomal Biogenesis 4: BTG family proteins and cell cycle regulation 5: Cyclins and Cell Cycle Regulation 6: FAS signaling pathway ( CD95 ) 7: Cyclin E Destruction Pathway 8: Cell Cycle: G1/S Check Point 9: Human Cytomegalovirus and Map Kinase Pathways 10: Regulation of p27 Phosphorylation during Cell Cycle Progression 11: p53 Signaling Pathway 12: Regulation of transcriptional activity by PML 13: Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) 14: RB Tumor Suppressor/Checkpoint Signaling in response to DNA damage 15: E2F1 Destruction Pathway 16: Telomeres, Telomerase, Cellular Aging, and Immortality 17: Overview of telomerase RNA component gene hTerc Transcriptional Regulation 18: Chaperones modulate interferon Signaling Pathway 19: TNFR1 Signaling Pathway |
KEGG Pathways: |
| Unique id : H003118_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. |
SP Function: specifically binds to the upstream regulatory region of type i ifn and ifn-inducible mhc class i genes (the interferon consensus sequence (ICS)) and represses those genes. |
Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003225_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: IRF7 encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. IRF7 has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. Multiple IRF7 transcript variants have been identified, although the functional consequences of these have not yet been established. |
SP Function: transcriptional activator. binds to the interferon- stimulated response element (isre) in ifn promoters and in the q promoter (qp) of ebv nuclear antigen-1 (ebna1). |
Gene Ontology:
cellular component: biological process: biological process: cellular component: biological process: biological process: biological process: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003239_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003268_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: binds to the gm-csf promoter. seems to act as a repressor. |
Gene Ontology:
molecular function: molecular function: cellular component: molecular function: biological process: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003463_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: binds to the pu-box, a purine-rich dna sequence (5′- gaggaa-3′) that can act as a lymphoid-specific enhancer. this protein is a transcriptional activator that may be specifically involved in the differentiation or activation of macrophages or b- cells. |
Gene Ontology:
biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003579_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: transcriptional repressor involved in the regulation of cell growth. inhibits cell growth. binds to the consensus sequence 5′-ggtgtg-3′. |
Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: biological process: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003665_01 Name: Hs.368367 Gene Symbol: Locus Link: Chromosome: |
Sum Func: Transcriptional insulators are DNA elements that set boundaries on the actions of enhancer and silencer elements and thereby organize the eukaryotic genome into regulatory domains (Kuhn and Geyer, 2003 [PubMed 12787766]). All vertebrate insulators appear to use the versatile CTCF protein. CTCF uses various combinations of its 11 zinc fingers to recognize a variety of unrelated DNA sequences. Once bound to DNA, CTCF can function as a transcriptional insulator, repressor, or activator, depending on the context of the binding site (Jeong and Pfeifer, 2004 [PubMed 15454938]).[supplied by OMIM] |
SP Function: transcriptional repressor binding to promoters of vertebrate c-myc gene. also binds to the plk and pim1 promoters. may prevent the access of transcriptional activators to enhancers. also acts as a transcriptional activator of app. involved in different aspects of gene regulation including promoter activation or repression, hormone-responsive gene silencing, methylation- dependent chromatin insulation, and genomic imprinting. seems to act as tumor suppressor. |
Gene Ontology:
molecular function: biological process: biological process: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: CTCF: First Multivalent Nuclear Factor |
KEGG Pathways: |
| Unique id : H003766_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene is a target gene of the transcription factor tumor protein p53. The encoded protein is a nuclear phosphoprotein that binds and inhibits transactivation by tumor protein p53, as part of an autoregulatory negative feedback loop. Overexpression of this gene can result in excessive inactivation of tumor protein p53, diminishing its tumor suppressor function. This protein has E3 ubiquitin ligase activity, which targets tumor protein p53 for proteasomal degradation. This protein also affects the cell cycle, apoptosis, and tumorigenesis through interactions with other proteins, including retinoblastoma 1 and ribosomal protein L5. More than 40 different alternatively spliced transcript variants have been isolated from both tumor and normal tissues. |
SP Function: inhibits p53- and p73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. functions as a ubiquitin ligase e3, in the presence of e1 and e2, toward p53 and itself. permits the nuclear export of p53 and targets it for proteasome-mediated proteolysis. |
Gene Ontology:
biological process: molecular function: biological process: biological process: biological process: molecular function: molecular function: cellular component: cellular component: cellular component: cellular component: cellular component: molecular function: molecular function: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways:
1: HIV-I Nef: negative effector of Fas and TNF 2: Tumor Suppressor Arf Inhibits Ribosomal Biogenesis 3: ATM Signaling Pathway 4: CTCF: First Multivalent Nuclear Factor 5: Cell Cycle: G2/M Checkpoint 6: p53 Signaling Pathway 7: Hypoxia and p53 in the Cardiovascular system 8: Sumoylation by RanBP2 Regulates Transcriptional Repression |
KEGG Pathways: |
| Unique id : H004003_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. |
SP Function: fosb interacts with jun proteins enhancing their dna binding activity. |
Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: biological process: molecular function: |
BioCarta Pathways:
1: FOSB gene expression and drug abuse |
KEGG Pathways: |
| Unique id : H004086_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the E2F transcription factor protein family. E2F family members play a crucial role in control of the cell cycle and of the action of tumor suppressor proteins. They are also a target of the transforming proteins of small DNA tumor viruses. Many E2F proteins contain several evolutionarily conserved domains: a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. The encoded protein of this gene is atypical because it lacks the transactivation and tumor suppressor protein association domains. It contains a modular suppression domain and is an inhibitor of E2F-dependent transcription. The protein is part of a multimeric protein complex that contains a histone methyltransferase and the transcription factors Mga and Max. Multiple transcript variants encoding several different isoforms have been found for this gene. |
SP Function: inhibitor of e2f-dependent transcription. binds DNA cooperatively with DP proteins through the e2 recognition site, 5′-tttc[cg]cgc-3′. has a preference for the 5′-tttcccgc-3′ e2f recognition site. e2f-6 lacks the transcriptional activation and pocket protein binding domains. appears to regulate a subset of e2f-dependent genes whose products are required for entry into the cell cycle but not for normal cell cycle progression. may silence expression via the recruitment of a chromatin remodeling complex containing histone h3-k9 methyltransferase activity. overexpression delays the exit of cells from the s-phase. |
Gene Ontology:
biological process: molecular function: cellular component: biological process: biological process: molecular function: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004156_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Two transcript variants result from alternative splicing of this gene. |
SP Function: | Gene Ontology:
molecular function: biological process: biological process: cellular component: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004838_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: involved in transcriptional regulation. represses the transcription of a number of genes including gastrin and ornithine decarboxylase. binds to the g-rich box in the enhancer region of these genes. |
Gene Ontology:
molecular function: cellular component: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000048_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The tumor suppressor WT1 represses and activates transcription. The protein encoded by this gene is a WT1-interacting protein that itself functions as a transcriptional repressor. It contains a putative leucine zipper domain which interacts with the zinc finger DNA binding domain of WT1. This protein is specifically upregulated during apoptosis of prostate cells. |
SP Function: | Gene Ontology:
biological process: cellular component: biological process: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005263_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: may act as a transcriptional activator. binds the caccc core sequence. may be involved in the differentiation of epithelial cells and may also function in the development of the skeleton and kidney. |
Gene Ontology:
biological process: biological process: biological process: biological process: molecular function: cellular component: molecular function: molecular function: molecular function: molecular function: molecular function: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000549_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: transcriptional repressor of c-myc and thymidine kinase promoters (by similarity). transcriptional activator of the dopamine transporter (dat), binding it’s promoter at the consensus sequence 5′-cctgcacagttcacgga-3′. |
Gene Ontology:
molecular function: biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007076_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Two transcript variants encoding different isoforms have been found for this gene. |
SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007145_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: may function as a transcription factor. |
Gene Ontology:
molecular function: molecular function: biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007192_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. |
SP Function: | Gene Ontology:
molecular function: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007210_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene product is a likely zinc finger family transcription factor. It contains KRAB-A and KRAB-B domains that act as transcriptional repressors in related proteins, and multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. This gene is part of a gene cluster on chromosome Xp11.23. |
SP Function: may be involved in transcriptional regulation. |
Gene Ontology:
biological process: cellular component: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007319_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: cellular component: molecular function: cellular component: molecular function: biological process: biological process: cellular component: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways:
1: Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) 2: Regulation of PGC-1a |
KEGG Pathways: |
| Unique id : H000651_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. |
SP Function: transcriptional repressor. binds with max to form a sequence-specific dna-binding protein complex which recognizes the core sequence cac[ga]tg. antagonizes myc transcriptional activity by competing for max (by similarity). |
Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007835_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. |
SP Function: | Gene Ontology:
molecular function: biological process: biological process: cellular component: molecular function: biological process: cellular component: biological process: |
BioCarta Pathways:
1: Regulation of transcriptional activity by PML |
KEGG Pathways: |
| Unique id : H008594_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: transfer of electrons from nadh to the respiratory chain. the immediate electron acceptor for the enzyme is believed to be ubiquinone. involved in the interferon/all-trans-retinoic acid (ifn/ra) induced cell death. |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: biological process: cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010067_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: cellular component: biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010723_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class III of the sirtuin family. Alternative splicing of this gene results in two transcript variants. |
SP Function: | Gene Ontology:
molecular function: biological process: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013140_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: biological process: molecular function: cellular component: cellular component: biological process: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H013229_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Homeobox-containing genes play critical roles in regulating tissue-specific gene expression essential for tissue differentiation, as well as determining the temporal and spatial patterns of development (Shiojima et al., 1995 [PubMed 7665173]). It has been demonstrated that a Drosophila homeobox-containing gene called ‘tinman’ is expressed in the developing dorsal vessel and in the equivalent of the vertebrate heart. Mutations in tinman result in loss of heart formation in the embryo, suggesting that tinman is essential for Drosophila heart formation. Furthermore, abundant expression of Csx, the presumptive mouse homolog of tinman, is observed only in the heart from the time of cardiac differentiation. CSX, the human homolog of murine Csx, has a homeodomain sequence identical to that of Csx and is expressed only in the heart, again suggesting that CSX plays an important role in human heart formation.[supplied by OMIM] |
SP Function: implicated in commitment to and/or differentiation of the myocardial lineage (by similarity). |
Gene Ontology:
biological process: biological process: biological process: cellular component: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways:
1: ALK in cardiac myocytes |
KEGG Pathways: |
| Unique id : H016601_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporadic cases of neural tube defects. |
SP Function: transcriptional repressor. involved in the generation and migration of neural crest cells. |
Gene Ontology:
molecular function: biological process: biological process: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000147_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and eight variants, encoding four distinct isoforms, are described. |
SP Function: binds to a retinoid x receptor (rxr) responsive element from the cellular retinol-binding protein ii promoter (crbpii- rxre). inhibits the 9-cis-retinoic acid-dependent rxr alpha transcription activation of the retinoic acid responsive element. active transcriptional corepressor of smad2. links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. may participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the rxr alpha activities. |
Gene Ontology:
biological process: biological process: cellular component: cellular component: biological process: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000183_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for the destruction of mitotic cyclins and for cell cycle progression. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. |
SP Function: catalyzes the covalent attachment of ubiquitin to other proteins. required for the destruction of mitotic cyclins. |
Gene Ontology:
biological process: biological process: biological process: molecular function: biological process: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002232_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins. This protein is a part of the large multiprotein complex, which is required for ubiquitin-mediated degradation of cell cycle G1 regulators, and for the initiation of DNA replication. |
SP Function: catalyzes the covalent attachment of ubiquitin to other proteins. |
Gene Ontology:
biological process: biological process: molecular function: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Cyclin E Destruction Pathway 2: Cell Cycle: G2/M Checkpoint 3: E2F1 Destruction Pathway |
KEGG Pathways: |
| Unique id : H002513_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Multiple alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. |
SP Function: catalyzes the covalent attachment of ubiquitin to other proteins. required for postreplication repair of uv-damaged DNA. |
Gene Ontology:
molecular function: cellular component: biological process: molecular function: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002802_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: may play an important role during the embryonic development and differentiation of the central nervous system. may play an essential role in eukaryotic cellular metabolism (by similarity). |
Gene Ontology:
biological process: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Regulation of p27 Phosphorylation during Cell Cycle Progression |
KEGG Pathways: |
| Unique id : H003039_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Its protein sequence is 100% identical to the mouse, rat, and rabbit homologs, which indicates that this enzyme is highly conserved in eukaryotic evolution. |
SP Function: | Gene Ontology:
biological process: molecular function: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004600_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000477_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. |
SP Function: may be involved in cell growth and differentiation. acts as a negative growth regulator. |
Gene Ontology:
molecular function: biological process: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004735_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005747_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006074_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. |
SP Function: | Gene Ontology:
biological process: molecular function: cellular component: cellular component: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000587_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia. |
SP Function: activates ubiquitin by first adenylating with atp its carboxy-terminal glycine residue and thereafter linking this residue to the side chain of a cysteine residue in e1, yielding an ubiquitin-e1 thioester and free amp. |
Gene Ontology:
molecular function: molecular function: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006978_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H007202_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants diverging at the 3′ end. |
SP Function: | Gene Ontology:
biological process: biological process: molecular function: biological process: cellular component: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008287_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008628_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. It binds selectively to a large region at the N terminus of huntingtin. This interaction is not influenced by the length of the huntingtin polyglutamine tract. This protein has been implicated in the degradation of huntingtin and suppression of apoptosis. |
SP Function: | Gene Ontology:
cellular component: biological process: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008698_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. Multiple spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. |
SP Function: | Gene Ontology:
molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009314_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a family member of enzymes known as ubiquitin carrier proteins, or E2s, which are an essential component of the ubiquitin-protein conjugation system. This protein exhibits E2 enzyme activity in its ability to form a thiol ester linkage with ubiquitin in a ubiquitin activating enzyme (E1)-dependent manner. This protein is the first member of this E2 family to be cloned from an epidermal source. |
SP Function: | Gene Ontology:
molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009737_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. |
SP Function: | Gene Ontology:
molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009787_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. |
SP Function: | Gene Ontology:
biological process: biological process: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010329_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010464_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is highly similar in primary structure to the enzyme encoded by UBE2L3 gene. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. |
SP Function: catalyzes the covalent attachment of ubiquitin to other proteins. functions in the e6/e6-ap-induced ubiquitination of p53/tp53. |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways:
1: Role of Parkin in the Ubiquitin-Proteasomal Pathway |
KEGG Pathways: |
| Unique id : H011459_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. |
SP Function: binds to the ubiquitin moieties of preformed conjugates and catalyzes ubiquitin chain assembly in conjunction with e1, e2, and e3 (by similarity). |
Gene Ontology:
biological process: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H012858_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. This protein is homologous to Xenopus bTrCP1, yeast Met30, Neurospora Scon2 and Drosophila Slimb proteins. It interacts with HIV-1 Vpu and connects CD4 to the proteolytic machinery. It also associates specifically with phosphorylated IkappaBalpha and beta-catenin destruction motifs, probably functioning in multiple transcriptional programs by activating the NF-kappaB pathway and inhibiting the beta-catenin pathway. |
SP Function: substrate-recognition component of the scf (skp1-cul1-f- box protein) ubiquitin ligase complex, which mediates the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. regulates the stability of ctnnb1 and participates in wnt signaling. |
Gene Ontology:
biological process: cellular component: molecular function: biological process: molecular function: biological process: biological process: |
BioCarta Pathways:
1: Presenilin action in Notch and Wnt signaling 2: WNT Signaling Pathway |
KEGG Pathways: |
| Unique id : H014476_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014848_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: biological process: molecular function: cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015616_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016275_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. |
SP Function: | Gene Ontology:
molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001703_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B72/B130 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. |
SP Function: the b regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. |
Gene Ontology:
molecular function: molecular function: biological process: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001704_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. |
SP Function: the b regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. |
Gene Ontology:
cellular component: molecular function: cellular component: cellular component: molecular function: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001979_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: calcium-dependent, calmodulin-stimulated protein phosphatase. this subunit may have a role in the calmodulin activation of calcineurin. |
Gene Ontology:
cellular component: molecular function: molecular function: molecular function: molecular function: biological process: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002974_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. |
SP Function: dephosphorylates and concomitantly deactivates cam- kinase ii activated upon autophosphorylation, and cam-kinases iv and i activated upon phosphorylation by cam-kinase kinase. promotes apoptosis. |
Gene Ontology:
biological process: molecular function: molecular function: molecular function: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003020_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding two distinct isoforms have been described. |
SP Function: enzyme with a broad specificity. |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: biological process: molecular function: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003578_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Calmodulin-dependent protein phosphatase, calcineurin, is involved in a wide range of biologic activities, acting as a Ca(2+)-dependent modifier of phosphorylation status. In testis, the motility of the sperm is thought to be controlled by cAMP-dependent phosphorylation and a unique form of calcineurin appears to be associated with the flagellum. The calcineurin holoenzyme is composed of catalytic and regulatory subunits of 60 and 18 kD, respectively. At least 3 genes, calcineurin A-alpha (CALNA1; MIM 114105), calcineurin A-beta (CALNA2; MIM 114106), and calcineurin A-gamma (CALNA3), have been cloned for the catalytic subunit. These genes have been identified in humans, mice, and rats, and are highly conserved between species (90 to 95% amino acid identity).[supplied by OMIM] |
SP Function: calcium-dependent, calmodulin-stimulated protein phosphatase. this subunit may have a role in the calmodulin activation of calcineurin. |
Gene Ontology:
cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003642_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing factors, which is important for the formation of functional spliceosome. Studies of a similar gene in mice suggested a role of this phosphatase in regulating cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. |
SP Function: | Gene Ontology:
biological process: molecular function: molecular function: molecular function: cellular component: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000464_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Defects in this gene could be the cause of some lung and colon cancers. At least two transcript variants encoding different isoforms have been found for this gene. |
SP Function: the pr65 subunit of protein phosphatase 2a serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory b subunit. |
Gene Ontology:
biological process: molecular function: biological process: cellular component: biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: cellular component: molecular function: biological process: molecular function: biological process: molecular function: molecular function: cellular component: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005412_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. |
SP Function: the b regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. |
Gene Ontology:
biological process: cellular component: molecular function: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006260_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Protein phosphatase 2A (PP2A) is a heterotrimeric serine/threonine phosphatase implicated in many cellular processes. The core enzyme of PP2A comprises a catalytic subunit (C) and a constant regulatory subunit (A). The core enzyme associates with one of three B regulatory subunits, which are encoded by different genes. The B subunits are thought to determine the substrate specificity and the subcellular localization of the enzyme. The protein encoded by this gene is one of the B regulatory subunits of PP2A. This protein can bind CDC6, a protein involved in the initiation of DNA replication and cell cycle control. Overexpression of this gene has been shown to cause a cell cycle G1 arrest. |
SP Function: | Gene Ontology:
biological process: molecular function: biological process: cellular component: molecular function: biological process: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways:
1: AKAP95 role in mitosis and chromosome dynamics 2: Protein Kinase A at the Centrosome 3: AKT Signaling Pathway 4: ChREBP regulation by carbohydrates and cAMP 5: Regulation of ck1/cdk5 by type 1 glutamate receptors 6: CTCF: First Multivalent Nuclear Factor 7: Erk1/Erk2 Mapk Signaling pathway 8: Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages 9: Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway 10: Keratinocyte Differentiation 11: mTOR Signaling Pathway 12: Deregulation of CDK5 in Alzheimer’s Disease 13: Telomeres, Telomerase, Cellular Aging, and Immortality 14: WNT Signaling Pathway |
KEGG Pathways: |
| Unique id : H000599_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. |
SP Function: might contribute to growth inhibitory pathways activated in response to dna damage in a p53-dependent manner. |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: cellular component: biological process: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000617_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. |
SP Function: the b regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. |
Gene Ontology:
cellular component: molecular function: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000644_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B56 subfamily. |
SP Function: the b regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. |
Gene Ontology:
cellular component: molecular function: molecular function: cellular component: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008394_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Three alternatively spliced transcript variants encoding distinct isoforms have been described. |
SP Function: enzyme with a broad specificity. dephosphorylates cdk2 and cdk6 in vitro. |
Gene Ontology:
molecular function: molecular function: molecular function: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H008583_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Spinophilin is a regulatory subunit of protein phosphatase-1 catalytic subunit (PP1; see MIM 176875) and is highly enriched in dendritic spines, specialized protrusions from dendritic shafts that receive most of the excitatory input in the central nervous system.[supplied by OMIM] |
SP Function: | Gene Ontology:
biological process: biological process: cellular component: biological process: cellular component: molecular function: molecular function: molecular function: cellular component: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010455_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H014726_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a protein similar to members of the protein phosphatase 2C (PP2C) family. Studies of the rat counterpart of this protein suggested that this protein may reside within the mitochondrial matrix space and be responsible for dephosphorylation and reactivation of the pyruvate dehydrogenase complex (PDC). |
SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: molecular function: cellular component: biological process: molecular function: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001593_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: cellular component: biological process: molecular function: molecular function: molecular function: biological process: biological process: biological process: biological process: molecular function: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001620_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: cellular component: molecular function: molecular function: molecular function: molecular function: biological process: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001680_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: molecular function: biological process: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002346_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002347_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: cellular component: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002377_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: cellular component: cellular component: biological process: cellular component: molecular function: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002384_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: endothelins are endothelium-derived vasoconstrictor peptides. |
Gene Ontology:
biological process: cellular component: molecular function: biological process: biological process: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002487_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: biological process: cellular component: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003007_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: molecular function: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003130_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: biological process: cellular component: biological process: cellular component: molecular function: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003668_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: biological process: cellular component: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003869_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: cellular component: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004053_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
biological process: biological process: biological process: biological process: cellular component: cellular component: molecular function: biological process: biological process: molecular function: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004099_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: cellular component: cellular component: biological process: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H004486_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H005413_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006279_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: cellular component: biological process: biological process: biological process: biological process: molecular function: molecular function: biological process: biological process: molecular function: molecular function: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: biological process: biological process: cellular component: cellular component: biological process: biological process: molecular function: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006300_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: molecular function: cellular component: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010976_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: molecular function: biological process: cellular component: biological process: biological process: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways:
1: fMLP induced chemokine gene expression in HMC-1 cells |
KEGG Pathways: |
| Unique id : H011336_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: molecular function: biological process: cellular component: cellular component: biological process: cellular component: biological process: molecular function: biological process: |
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: Gene Symbol: Locus Link: Chromosome: |
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: cellular component: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015053_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: biological process: biological process: biological process: biological process: biological process: biological process: cellular component: molecular function: molecular function: molecular function: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015734_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: biological process: cellular component: molecular function: molecular function: cellular component: molecular function: biological process: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H016485_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: cellular component: molecular function: biological process: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways:
1: Phospholipids as signalling intermediaries |
KEGG Pathways: |
| Unique id : H001698_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase (AMPK), which transduces the signal through phosphorylation of different target proteins. The inactive holoenzyme of AMPK is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits of AMPK have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of AMPK. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). |
SP Function: type ii regulatory chains mediate membrane association by binding to anchoring proteins, including the map2 kinase. |
Gene Ontology:
molecular function: cellular component: molecular function: molecular function: cellular component: biological process: molecular function: cellular component: cellular component: biological process: biological process: |
BioCarta Pathways:
1: Rho-Selective Guanine Exchange Factor AKAP13 Mediates Stress Fiber Formation 2: AKAP95 role in mitosis and chromosome dynamics 3: Protein Kinase A at the Centrosome |
KEGG Pathways: |
| Unique id : H001751_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. This protein was demonstrated to interact with and inhibit the activities of both C alpha and C beta catalytic subunits of the PKA. Alternatively spliced transcript variants encoding the same protein have been reported. |
SP Function: | Gene Ontology:
molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001923_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: biological process: cellular component: molecular function: molecular function: biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001988_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer’s disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer’s disease. |
SP Function: p35 is a neuron specific activator of cdk5. the complex p35/cdk5 is required for neurite outgrowth and cortical lamination. activator of tpkii. |
Gene Ontology:
biological process: biological process: molecular function: cellular component: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002140_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: molecular function: cellular component: molecular function: molecular function: biological process: biological process: biological process: cellular component: cellular component: cellular component: biological process: biological process: biological process: biological process: molecular function: molecular function: molecular function: molecular function: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H002149_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-CDK2 or -CDK4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen (PCNA), a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of CDK2, and may be instrumental in the execution of apoptosis following caspase activation. Two alternatively spliced variants, which encode an identical protein, have been reported. |
SP Function: may be the important intermediate by which p53 mediates its role as an inhibitor of cellular proliferation in response to dna damage. may bind to and inhibit cyclin-dependent kinase activity, preventing phosphorylation of critical cyclin-dependent kinase substrates and blocking cell cycle progression. |
Gene Ontology:
biological process: biological process: molecular function: molecular function: biological process: molecular function: biological process: cellular component: cellular component: molecular function: biological process: |
BioCarta Pathways:
1: Influence of Ras and Rho proteins on G1 to S Transition 2: ATM Signaling Pathway 3: Effects of calcineurin in Keratinocyte Differentiation 4: Cyclins and Cell Cycle Regulation 5: Erythropoietin mediated neuroprotection through NF-kB 6: Cell Cycle: G1/S Check Point 7: Cell Cycle: G2/M Checkpoint 8: p53 Signaling Pathway 9: Hypoxia and p53 in the Cardiovascular system |
KEGG Pathways: |
| Unique id : H002266_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: molecular function: molecular function: biological process: cellular component: molecular function: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003410_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, MDM1, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. |
SP Function: interacts strongly with cdk4 and cdk6. inhibits their ability to interact with cyclins d. could act as a negative regulator of the proliferation of normal cells. |
Gene Ontology:
biological process: biological process: biological process: biological process: molecular function: molecular function: biological process: biological process: cellular component: biological process: |
BioCarta Pathways:
1: Tumor Suppressor Arf Inhibits Ribosomal Biogenesis 2: Cyclins and Cell Cycle Regulation 3: CTCF: First Multivalent Nuclear Factor 4: Cell Cycle: G1/S Check Point |
KEGG Pathways: |
| Unique id : H003496_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: molecular function: biological process: biological process: cellular component: biological process: biological process: biological process: biological process: cellular component: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003594_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Cyclin-dependent kinase inhibitor 1C is a tight-binding inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations of CDKN1C are implicated in sporadic cancers and Beckwith-Wiedemann syndrome suggesting that it is a tumor suppressor candidate. |
SP Function: potent tight-binding inhibitor of several g1 cyclin/cdk complexes (cyclin e-cdk2, cyclin d2-cdk4, and cyclin a-cdk2) and, to lesser extent, of the mitotic cyclin b-cdc2. negative regulator of cell proliferation. may play a role in maintenance of the nonproliferative state throughout life. |
Gene Ontology:
biological process: biological process: biological process: molecular function: biological process: biological process: cellular component: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H003750_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. |
SP Function: interacts strongly with cdk4 and cdk6. potent inhibitor. potential effector of tgf-beta induced cell cycle arrest. |
Gene Ontology:
biological process: biological process: molecular function: molecular function: cellular component: biological process: biological process: cellular component: biological process: |
BioCarta Pathways:
1: Cyclins and Cell Cycle Regulation 2: Cell Cycle: G1/S Check Point |
KEGG Pathways: |
| Unique id : H003757_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. |
SP Function: | Gene Ontology:
biological process: cellular component: molecular function: molecular function: cellular component: molecular function: |
BioCarta Pathways:
1: TNFR1 Signaling Pathway |
KEGG Pathways: |
| Unique id : H003759_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. |
SP Function: interacts strongly with cdk4 and cdk6. |
Gene Ontology:
biological process: biological process: molecular function: cellular component: biological process: biological process: cellular component: biological process: |
BioCarta Pathways:
1: Cyclins and Cell Cycle Regulation 2: Cell Cycle: G2/M Checkpoint |
KEGG Pathways: |
| Unique id : H006248_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: biological process: molecular function: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H006636_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The WNK1 gene encodes a cytoplasmic serine-threonine kinase expressed in distal nephron.[supplied by OMIM] |
SP Function: | Gene Ontology:
molecular function: cellular component: biological process: biological process: biological process: molecular function: molecular function: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000624_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: biological process: biological process: molecular function: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H000645_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase (AMPK), which transduces the signal through phosphorylation of different target proteins. The inactive holoenzyme of AMPK is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits of AMPK have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Functional null mutations in this gene cause Carney complex (CNC), an autosomal dominant multiple neoplasia syndrome. This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. Three alternatively spliced transcript variants encoding the same protein have been observed. |
SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: biological process: biological process: biological process: |
BioCarta Pathways:
1: Activation of cAMP-dependent protein kinase, PKA |
KEGG Pathways: |
| Unique id : H008675_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: cellular component: molecular function: biological process: molecular function: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H009001_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved in proinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. |
SP Function: may act as a scaffold protein that may assemble active ikk-map3k14 complexes (ikka, ikkb and map3k14/nik). |
Gene Ontology:
biological process: molecular function: biological process: biological process: molecular function: |
BioCarta Pathways:
1: Alternative Complement Pathway 2: CD40L Signaling Pathway 3: Complement Pathway 4: TNFR2 Signaling Pathway |
KEGG Pathways: |
| Unique id : H009651_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: This gene encodes a protein present at the cell surface. Studies in rabbit suggest that in sperm the protein is involved in fertilization by binding to the zona pellucida of the oocyte. Other studies in rabbit suggest that it is also involved in additional cell-cell adhesion functions such as immune cell migration and metastasis. |
SP Function: sperm surface zona pellucida binding protein. helps to bind spermatozoa to the zona pellucida with high affinity. might function in binding zona pellucida and carbohydrates (by similarity). |
Gene Ontology:
molecular function: biological process: cellular component: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010381_01 Name: Gene Symbol: Locus Link: Chromosome: |
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: biological process: cellular component: biological process: molecular function: biological process: biological process: biological process: molecular function: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H010766_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: | SP Function: | Gene Ontology:
molecular function: molecular function: molecular function: cellular component: biological process: molecular function: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H001044_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that it participates in the development of the tissues. However, its exact significance is still obscure. |
SP Function: promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. shows affinity for calcium and barium ions. |
Gene Ontology:
biological process: molecular function: cellular component: molecular function: biological process: biological process: biological process: biological process: biological process: biological process: |
BioCarta Pathways: | KEGG Pathways: |
| Unique id : H015325_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: Midbrain dopaminergic neurons play a critical role in multiple brain functions, and abnormal signaling through dopaminergic pathways has been implicated in several major neurologic and psychiatric disorders. One well-studied target for the actions of dopamine is DARPP32. In the densely dopamine- and glutamate-innervated rat caudate-putamen, DARPP32 is expressed in medium-sized spiny neurons (Ouimet and Greengard, 1990 [PubMed 2191086]) that also express dopamine D1 receptors (Walaas and Greengard, 1984 [PubMed 6319627]). The function of DARPP32 seems to be regulated by receptor stimulation. Both dopaminergic and glutamatergic (NMDA) receptor stimulation regulate the extent of DARPP32 phosphorylation, but in opposite directions (Halpain et al., 1990 [PubMed 2153935]). Dopamine D1 receptor stimulation enhances cAMP formation, resulting in the phosphorylation of DARPP32 (Walaas and Greengard, 1984 [PubMed 6319627]); phosphorylated DARPP32 is a potent protein phosphatase-1 (see MIM 176875) inhibitor (Hemmings et al., 1984 [PubMed 6087160]). NMDA receptor stimulation elevates intracellular calcium, which leads to activation of calcineurin and dephosphorylation of phospho-DARPP32, thereby reducing the phosphatase-1 inhibitory activity of DARPP32 (Halpain et al., 1990 [PubMed 2153935]).[supplied by OMIM] |
SP Function: | Gene Ontology:
cellular component: molecular function: molecular function: biological process: |
BioCarta Pathways:
1: Regulation of ck1/cdk5 by type 1 glutamate receptors 2: FOSB gene expression and drug abuse |
KEGG Pathways: |
| Unique id : H000136_01 Name: Gene Symbol: Locus Link: Chromosome: |
Sum Func: The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. |
SP Function: interacts strongly with cdk6, weakly with cdk4. inhibits cell growth and proliferation with a correlated dependence on endogenous retinoblastoma protein rb. |
Gene Ontology:
biological process: biological process: molecular function: cellular component: biological process: cellular component: |
BioCarta Pathways:
1: Cyclins and Cell Cycle Regulation |
KEGG Pathways: |