JAK2

Tyrosine-protein kinase JAK2 ;
Janus kinase 2 ;
JAK-2 ;

catalytic activity:ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. ,disease:Chromosomal aberrations involving JAK2 are found in both chronic and acute forms of eosinophilic , lymphoblastic and myeloid leukemia. Translocation t (8;9) (p22;p24) with PCM1 links the protein kinase domain of JAK2 to the major portion of PCM1. Translocation t (9;12) (p24;p13) with ETV6. ,disease:Defects in JAK2 are a cause of acute myelogenous leukemia (AML) [MIM:601626]. AML is a malignant disease in which hematopoietic precursors are arrested in an early stage of development. ,disease:Defects in JAK2 are a cause of susceptibility to Budd-Chiari syndrome [MIM:600880]. Budd-Chiari syndrome is a spectrum of disease states , including anatomic abnormalities and hypercoagulable disorders , resulting in hepatic venous outflow occlusion. Clinical manifestations observed in the majority of patients include hepatomegaly , right upper quadrant pain , and abdominal ascites. ,disease:Defects in JAK2 are associated with familial myelofibrosis [MIM:254450]. Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of 0.5-1.5 cases per 100 ,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews) . Clinical manifestations depend on the type of blood cell affected and may include anemia , pallor , splenomegaly , hypermetabolic state , petechiae , ecchymosis , bleeding , lymphadenopathy , hepatomegaly , portal hypertension. ,disease:Defects in JAK2 are associated with polycythemia vera (PV) [MIM:263300]. PV , the most common form of primary polycythemia , is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia , but also by myeloid leukocytosis , thrombocytosis , and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients. ,disease:Defects in JAK2 gene may be a cause of essential thrombocythemia (ET) [MIM:187950]. ET is characterized by elevated platelet levels due to sustained proliferation of megakaryocytes , and frequently lead to thrombotic and haemorrhagic complications. ,domain:Possesses two phosphotransferase domains. The second one probably contains the catalytic domain (By similarity) , while the presence of slight differences suggest a different role for domain 1. ,function:Plays a role in leptin signaling and control of body weight (By similarity) . Tyrosine kinase of the non-receptor type , involved in interleukin-3 and probably interleukin-23 signal transduction. ,PTM:Leptin promotes phosphorylation on tyrosine residues , including phosphorylation on Tyr-813. ,similarity:Belongs to the protein kinase superfamily. Tyr protein kinase family. ,similarity:Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily. ,similarity:Contains 1 FERM domain. ,similarity:Contains 1 protein kinase domain. ,similarity:Contains 1 SH2 domain. ,subcellular location:Wholly intracellular , possibly membrane associated. ,subunit:Interacts with SIRPA and SH2B1 (By similarity) . Interacts with IL23R , SKB1 and STAM2. ,tissue specificity:Expressed in blood , bone marrow and lymph node. ,

protein import into nucleus , translocation , MAPKKK cascade , activation of MAPKK activity , cell morphogenesis , cell morphogenesis involved in differentiation , regulation of cytokine production , positive regulation of cytokine production ,regulation of protein amino acid phosphorylation , positive regulation of protein amino acid phosphorylation , immune system development , regulation of peptide secretion , positive regulation of peptide secretion , protein amino acid phosphorylation , protein targeting , protein import into nucleus , phosphorus metabolic process , phosphate metabolic process , cellular ion homeostasis , cellular calcium ion homeostasis , cellular metal ion homeostasis , intracellular protein transport , nucleocytoplasmic transport , apoptosis , induction of apoptosis , cell motion , response to oxidative stress ,negative regulation of cell adhesion , cell surface receptor linked signal transduction , enzyme linked receptor protein signaling pathway , transmembrane receptor protein tyrosine kinase signaling pathway , G-protein coupled receptor protein signaling pathway , elevation of cytosolic calcium ion concentration , intracellular signaling cascade , protein kinase cascade , JAK-STAT cascade , tyrosine phosphorylation of STAT protein , STAT protein nuclear translocation ,axonogenesis , mesoderm development , regulation of heart contraction , protein localization , cell death , positive regulation of cell proliferation , negative regulation of cell proliferation , induction of apoptosis by intracellular signals ,induction of apoptosis by oxidative stress , response to wounding , response to endogenous stimulus , response to hormone stimulus , hormone-mediated signaling , positive regulation of biosynthetic process , positive regulation of signal transduction , response to organic substance , positive regulation of phosphorus metabolic process , positive regulation of macromolecule metabolic process , regulation of protein kinase cascade , positive regulation of cell communication , positive regulation of protein kinase cascade , regulation of phosphatase activity , positive regulation of phosphatase activity , regulation of cell death , positive regulation of cell death , programmed cell death , induction of programmed cell death , regulation of phosphoinositide 3-kinase cascade , positive regulation of phosphoinositide 3-kinase cascade , protein transport , death , phosphorylation , protein import , peptidyl-tyrosine phosphorylation , peptidyl-tyrosine modification , regulation of phosphate metabolic process , cellular homeostasis , regulation of cell-cell adhesion ,negative regulation of cell-cell adhesion , cellular cation homeostasis , cellular di- , tri-valent inorganic cation homeostasis , cell projection organization , hemopoiesis , myeloid cell differentiation , regulation of cell adhesion , neuron differentiation , regulation of cell migration , positive regulation of cell migration , steroid hormone receptor signaling pathway , intracellular receptor-mediated signaling pathway , regeneration , neuron projection regeneration , axon regeneration , neuron projection development , positive regulation of cellular biosynthetic process , positive regulation of defense response , regulation of protein modification process , positive regulation of protein modification process ,corticosteroid receptor signaling pathway , mineralocorticoid receptor signaling pathway , positive regulation of insulin secretion , regulation of response to external stimulus , positive regulation of response to external stimulus , activation of protein kinase activity , regulation of cellular protein metabolic process , positive regulation of cellular protein metabolic process , regulation of intracellular transport , positive regulation of intracellular transport , positive regulation of phosphoprotein phosphatase activity , regulation of interleukin-1 beta production , regulation of interleukin-1 production , positive regulation of interleukin-1 beta production , positive regulation of interleukin-1 production , cellular response to hormone stimulus , regulation of protein localization , cellular component morphogenesis , cell part morphogenesis , regulation of intracellular protein transport , regulation of protein import into nucleus , translocation ,positive regulation of protein import into nucleus , translocation , response to hydroperoxide , protein localization in organelle , cellular response to stress , positive regulation of kinase activity , protein localization in nucleus , cellular protein localization , regulation of dephosphorylation , regulation of locomotion , positive regulation of locomotion ,regulation of cell proliferation , regulation of protein import into nucleus , regulation of phosphorylation , positive regulation of phosphorylation , tyrosine phosphorylation of Stat1 protein , regulation of tyrosine phosphorylation of STAT protein , regulation of tyrosine phosphorylation of Stat3 protein , positive regulation of tyrosine phosphorylation of Stat3 protein , regulation of tyrosine phosphorylation of Stat5 protein , positive regulation of tyrosine phosphorylation of Stat5 protein , positive regulation of tyrosine phosphorylation of STAT protein , homeostatic process ,regulation of apoptosis , positive regulation of apoptosis , regulation of programmed cell death , positive regulation of programmed cell death , positive regulation of catalytic activity , positive regulation of DNA binding , negative regulation of DNA binding , response to peptide hormone stimulus , regulation of neuron apoptosis , neuroprotection , regulation of kinase activity , regulation of phosphoprotein phosphatase activity , regulation of system process , negative regulation of molecular function , positive regulation of molecular function , establishment of protein localization , regulation of nitric oxide biosynthetic process , positive regulation of nitric oxide biosynthetic process , regulation of transcription , positive regulation of cell differentiation , negative regulation of heart contraction , regulation of protein kinase activity , positive regulation of protein kinase activity , positive regulation of phosphate metabolic process , regulation of JAK-STAT cascade , positive regulation of JAK-STAT cascade , response to antibiotic , protein amino acid autophosphorylation ,regulation of nucleocytoplasmic transport , regulation of hormone secretion , positive regulation of hormone secretion ,intracellular transport , platelet-derived growth factor receptor signaling pathway , hemopoietic or lymphoid organ development , positive regulation of response to stimulus , neuron development , cell morphogenesis involved in neuron differentiation , response to axon injury , neuron projection morphogenesis , cell projection morphogenesis , chemical homeostasis , regulation of inflammatory response , positive regulation of inflammatory response , regulation of peptidyl-tyrosine phosphorylation , positive regulation of peptidyl-tyrosine phosphorylation , regulation of insulin secretion , ion homeostasis , regulation of cell activation , positive regulation of cell activation , regulation of lipoprotein lipase activity , regulation of secretion , positive regulation of secretion , positive regulation of transport , regulation of transcription factor activity , positive regulation of transcription factor activity , positive regulation of developmental process , regulation of binding , positive regulation of binding , negative regulation of binding , regulation of DNA binding ,nuclear transport , nuclear import , positive regulation of nitrogen compound metabolic process , regulation of phosphorus metabolic process , positive regulation of protein transport , regulation of protein transport , positive regulation of multicellular organismal process , negative regulation of multicellular organismal process , positive regulation of protein metabolic process , regulation of cell motion , positive regulation of cell motion , regulation of hydrolase activity , regulation of transferase activity , positive regulation of hydrolase activity , positive regulation of transferase activity , cytosolic calcium ion homeostasis , metal ion homeostasis , di- , tri-valent inorganic cation homeostasis , calcium ion homeostasis , cation homeostasis , cellular chemical homeostasis , regulation of lipase activity ,regulation of cellular localization , growth hormone receptor signaling pathway , JAK-STAT cascade involved in growth hormone signaling pathway , regulation of growth hormone receptor signaling pathway , positive regulation of growth hormone receptor signaling pathway , response to growth hormone stimulus , regulation of establishment of protein localization , cellular macromolecule localization ,

Endomembrane system ; Peripheral membrane protein . Cytoplasm . Nucleus .