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The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Ezkurdia et al 2014)
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GO:0000165 [MAPK cascade] GO:0000186 [activation of MAPKK activity] GO:0002250 [adaptive immune response] GO:0002731 [negative regulation of dendritic cell cytokine production] GO:0004672 [protein kinase activity] GO:0004713 [protein tyrosine kinase activity] GO:0004715 [non-membrane spanning protein tyrosine kinase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0006468 [protein phosphorylation] GO:0007167 [enzyme linked receptor protein signaling pathway] GO:0007169 [transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007173 [epidermal growth factor receptor signaling pathway] GO:0007260 [tyrosine phosphorylation of STAT protein] GO:0007262 [STAT protein import into nucleus] GO:0007264 [small GTPase mediated signal transduction] GO:0007265 [Ras protein signal transduction] GO:0007411 [axon guidance] GO:0008286 [insulin receptor signaling pathway] GO:0008543 [fibroblast growth factor receptor signaling pathway] GO:0012505 [endomembrane system] GO:0016020 [membrane] GO:0016477 [cell migration] GO:0018108 [peptidyl-tyrosine phosphorylation] GO:0019903 [protein phosphatase binding] GO:0030183 [B cell differentiation] GO:0030218 [erythrocyte differentiation] GO:0031234 [extrinsic component of cytoplasmic side of plasma membrane] GO:0032693 [negative regulation of interleukin-10 production] GO:0032695 [negative regulation of interleukin-12 production] GO:0035556 [intracellular signal transduction] GO:0035771 [interleukin-4-mediated signaling pathway] GO:0038083 [peptidyl-tyrosine autophosphorylation] GO:0038095 [Fc-epsilon receptor signaling pathway] GO:0042102 [positive regulation of T cell proliferation] GO:0042981 [regulation of apoptotic process] GO:0043029 [T cell homeostasis] GO:0045087 [innate immune response] GO:0045221 [negative regulation of FasL biosynthetic process] GO:0045626 [negative regulation of T-helper 1 cell differentiation] GO:0048010 [vascular endothelial growth factor receptor signaling pathway] GO:0048011 [neurotrophin TRK receptor signaling pathway] GO:0050868 [negative regulation of T cell activation] GO:0051427 [hormone receptor binding] GO:0060397 [JAK-STAT cascade involved in growth hormone signaling pathway] GO:0070232 [regulation of T cell apoptotic process] GO:0070244 [negative regulation of thymocyte apoptotic process] GO:0070669 [response to interleukin-2] GO:0070670 [response to interleukin-4] GO:0070672 [response to interleukin-15] GO:0071104 [response to interleukin-9]
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Ezkurdia et al 2014)
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GO:0000165 [MAPK cascade] GO:0000186 [activation of MAPKK activity] GO:0002250 [adaptive immune response] GO:0002731 [negative regulation of dendritic cell cytokine production] GO:0004672 [protein kinase activity] GO:0004713 [protein tyrosine kinase activity] GO:0004715 [non-membrane spanning protein tyrosine kinase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0006468 [protein phosphorylation] GO:0007167 [enzyme linked receptor protein signaling pathway] GO:0007169 [transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007173 [epidermal growth factor receptor signaling pathway] GO:0007260 [tyrosine phosphorylation of STAT protein] GO:0007262 [STAT protein import into nucleus] GO:0007264 [small GTPase mediated signal transduction] GO:0007265 [Ras protein signal transduction] GO:0007411 [axon guidance] GO:0008286 [insulin receptor signaling pathway] GO:0008543 [fibroblast growth factor receptor signaling pathway] GO:0012505 [endomembrane system] GO:0016020 [membrane] GO:0016477 [cell migration] GO:0018108 [peptidyl-tyrosine phosphorylation] GO:0019903 [protein phosphatase binding] GO:0030183 [B cell differentiation] GO:0030218 [erythrocyte differentiation] GO:0031234 [extrinsic component of cytoplasmic side of plasma membrane] GO:0032693 [negative regulation of interleukin-10 production] GO:0032695 [negative regulation of interleukin-12 production] GO:0035556 [intracellular signal transduction] GO:0035771 [interleukin-4-mediated signaling pathway] GO:0038083 [peptidyl-tyrosine autophosphorylation] GO:0038095 [Fc-epsilon receptor signaling pathway] GO:0042102 [positive regulation of T cell proliferation] GO:0042981 [regulation of apoptotic process] GO:0043029 [T cell homeostasis] GO:0045087 [innate immune response] GO:0045221 [negative regulation of FasL biosynthetic process] GO:0045626 [negative regulation of T-helper 1 cell differentiation] GO:0048010 [vascular endothelial growth factor receptor signaling pathway] GO:0048011 [neurotrophin TRK receptor signaling pathway] GO:0050868 [negative regulation of T cell activation] GO:0051427 [hormone receptor binding] GO:0060397 [JAK-STAT cascade involved in growth hormone signaling pathway] GO:0070232 [regulation of T cell apoptotic process] GO:0070244 [negative regulation of thymocyte apoptotic process] GO:0070669 [response to interleukin-2] GO:0070670 [response to interleukin-4] GO:0070672 [response to interleukin-15] GO:0071104 [response to interleukin-9]
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000165 [MAPK cascade] GO:0000186 [activation of MAPKK activity] GO:0002250 [adaptive immune response] GO:0002731 [negative regulation of dendritic cell cytokine production] GO:0004672 [protein kinase activity] GO:0004713 [protein tyrosine kinase activity] GO:0004715 [non-membrane spanning protein tyrosine kinase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0006468 [protein phosphorylation] GO:0007167 [enzyme linked receptor protein signaling pathway] GO:0007169 [transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007173 [epidermal growth factor receptor signaling pathway] GO:0007204 [positive regulation of cytosolic calcium ion concentration] GO:0007260 [tyrosine phosphorylation of STAT protein] GO:0007262 [STAT protein import into nucleus] GO:0007264 [small GTPase mediated signal transduction] GO:0007265 [Ras protein signal transduction] GO:0007411 [axon guidance] GO:0008286 [insulin receptor signaling pathway] GO:0008543 [fibroblast growth factor receptor signaling pathway] GO:0012505 [endomembrane system] GO:0016020 [membrane] GO:0016477 [cell migration] GO:0018108 [peptidyl-tyrosine phosphorylation] GO:0019221 [cytokine-mediated signaling pathway] GO:0019903 [protein phosphatase binding] GO:0030183 [B cell differentiation] GO:0030218 [erythrocyte differentiation] GO:0031234 [extrinsic component of cytoplasmic side of plasma membrane] GO:0032693 [negative regulation of interleukin-10 production] GO:0032695 [negative regulation of interleukin-12 production] GO:0035556 [intracellular signal transduction] GO:0035771 [interleukin-4-mediated signaling pathway] GO:0038083 [peptidyl-tyrosine autophosphorylation] GO:0038095 [Fc-epsilon receptor signaling pathway] GO:0042102 [positive regulation of T cell proliferation] GO:0042104 [positive regulation of activated T cell proliferation] GO:0042506 [tyrosine phosphorylation of Stat5 protein] GO:0042981 [regulation of apoptotic process] GO:0043029 [T cell homeostasis] GO:0045087 [innate immune response] GO:0045221 [negative regulation of FasL biosynthetic process] GO:0045626 [negative regulation of T-helper 1 cell differentiation] GO:0046777 [protein autophosphorylation] GO:0048010 [vascular endothelial growth factor receptor signaling pathway] GO:0048011 [neurotrophin TRK receptor signaling pathway] GO:0050778 [positive regulation of immune response] GO:0050868 [negative regulation of T cell activation] GO:0051427 [hormone receptor binding] GO:0051928 [positive regulation of calcium ion transport] GO:0060397 [JAK-STAT cascade involved in growth hormone signaling pathway] GO:0070232 [regulation of T cell apoptotic process] GO:0070244 [negative regulation of thymocyte apoptotic process] GO:0070669 [response to interleukin-2] GO:0070670 [response to interleukin-4] GO:0070672 [response to interleukin-15] GO:0071104 [response to interleukin-9]