NCIt synonyms : Janus Kinase 2 (A Protein Tyrosine Kinase) wt Allele; THCYT3; JTK10;
NCIt definition : Human JAK2 wild-type allele is located within 9p24 and is approximately 143 kb in
length. This allele, which encodes tyrosine-protein kinase JAK2 protein, plays a role
in interleukin 3 signal transduction. An allelic variant of the JAK2 gene, which exhibits
a dominant gain of function mutation, is associated with several myeloproliferative
disorders including polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis.;
NCIt note : In a mouse model, absence of JAK2 gene product activity contributes to the absence
of definitive erythropoiesis, resulting in embryonic lethality.;