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JAK2 a non-receptor tyrosine-kinase involved in a specific subset of cytokine receptor signaling pathways, including IL-3, -5 and GM-CSF. Interacts with IL23R, SKB1 and STAM2. It has been found to be constitutively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. Fusion of Jak2 to TEL1 (ETV6) by t(9;12)(p24;p13) causes myeloproliferative disease in humans and mouse models. The Jak inhibitor AG490 inhibits constitutive Jak2 phosphorylation and causes apoptosis in cells from breast cancer and relapsing acute lymphoblastic leukemia. A single activating mutation is associated with several hematological malignancies. Inhibitor: AG490. Note: This description may include information from UniProtKB.
Protein type: EC; JakA family; Kinase, protein; Oncoprotein; Protein kinase, TK; Protein kinase, tyrosine (non-receptor); TK group
Chromosomal Location of Human Ortholog: 9p24.1
Cellular Component: caveola; cytoplasm; cytosol; extrinsic to internal side of plasma membrane; focal adhesion; lipid raft; nucleoplasm; nucleus; plasma membrane
Molecular Function: growth hormone receptor binding; heme binding; histone binding; interleukin-12 receptor binding; non-membrane spanning protein tyrosine kinase activity; protein binding; protein kinase binding; protein-tyrosine kinase activity; Ras guanyl-nucleotide exchange factor activity; receptor binding; SH2 domain binding
Biological Process: activation of JAK protein; apoptosis; blood coagulation; caspase activation; cell differentiation; cell migration; cell motility; cytokine and chemokine mediated signaling pathway; enzyme linked receptor protein signaling pathway; erythrocyte differentiation; innate immune response; JAK-STAT cascade; MAPKKK cascade; mesoderm development; negative regulation of cell proliferation; negative regulation of DNA binding; peptidyl-tyrosine phosphorylation; positive regulation of nitric-oxide synthase biosynthetic process; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of phosphoinositide 3-kinase cascade; positive regulation of tumor necrosis factor production; positive regulation of tyrosine phosphorylation of STAT protein; protein amino acid autophosphorylation; protein amino acid phosphorylation; regulation of apoptosis; regulation of cell proliferation; regulation of inflammatory response; response to antibiotic; response to lipopolysaccharide; signal transduction; STAT protein nuclear translocation; tumor necrosis factor-mediated signaling pathway; tyrosine phosphorylation of STAT protein
Disease: Budd-chiari Syndrome; Erythrocytosis, Familial, 1; Myelofibrosis; Polycythemia Vera; Thrombocythemia 3
Reference #:  O60674 (UniProtKB)
Alt. Names/Synonyms: JAK-2; JAK2; Janus kinase 2; Janus kinase 2 (a protein tyrosine kinase); JTK10; Tyrosine-protein kinase JAK2
Gene Symbols: JAK2
Molecular weight: 130,674 Da
Basal Isoelectric point: 6.82  Predict pI for various phosphorylation states
CST Pathways:  ErbB/HER Signaling  |  IL6 Signaling  |  Inhibition of Apoptosis  |  Tyrosine Kinases & Substrates
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