Janus Kinase 2 (JAK2)
Jump to navigation
Jump to search
Function
- tyrosine kinase of the non-receptor type
- role in IL-3 & probably IL-23 signal transduction
- interacts with SIRPA (putative)
- interacts with IL23R, SKB1 & STAM2
- role in signal transduction through
Inhibition:
- inhibited by TG101348
Structure
- 2 phosphotransferase domains
- domain 2 probably contains the catalytic domain
- domain 1 probably different role
- belongs to the Tyr protein kinase family, JAK subfamily
- contains 1 FERM domain
- contains 1 protein kinase domain
- contains 1 SH2 domain
Compartment
- intracytoplasmic membrane, peripheral membrane (putative)
- wholly intracellular, possibly membrane associated
Expression
expressed in blood, bone marrow & lymph node
Pathology
- mutations associated with myelodysplastic disorders
- polycythemia vera (65-99%)*
- essential thrombocythemia (32-57%)*
- myelofibrosis with myeloid metaplasia (9-50%)*
- myelodysplastic syndrome (5%)*
- defects in JAK2 are a cause of acute myeloid leukemia
- JAK2 mutations may inhibit Bcl-xL deamidation
* frequency of V617F mutations
- chromosomal translocation t(8;9)(p22;p24) involving JAK2 with PCM1 are found in both chronic & acute forms of eosinophilic, lymphoblastic & myeloid leukemia translocation links the protein kinase domain of JAK2 to PCM1
- defects in JAK2 are a cause of susceptibility to Budd-Chiari syndrome
More general terms
Additional terms
References
- ↑ Ihle JN et al Signaling by the cytokine receptor superfamily: JAKs and STATs TIBS 19:222 1994 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8048164
- ↑ Tefferi A, Gilliland DG. The JAK2V617F tyrosine kinase mutation in myeloproliferative disorders: status report & immediate implications for disease classification & diagnosis. Mayo Clin Proc. 2005 Jul;80(7):947-58. PMID: https://www.ncbi.nlm.nih.gov/pubmed/16007902
- ↑ Atlas of Genetics & cytogenetics in oncology & Haematology http://atlasgeneticsoncology.org/Genes/JAK98.html
- ↑ UniProt http://www.uniprot.org/uniprot/O60674.html
- ↑ 5.0 5.1 Geriatric Review Syllabus, 7th edition Parada JT et al (eds) American Geriatrics Society, 2010