Janus kinase 2

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Janus kinase 2 (a protein tyrosine kinase)
PDB rendering based on 2b7a.
Available structures: 2b7a
Identifiers
Symbol(s) JAK2;
External IDs OMIM: 147796 MGI: 96629 HomoloGene: 21033
Orthologs
Human Mouse
Entrez 3717 16452
Ensembl ENSG00000096968 ENSMUSG00000024789
Uniprot O60674 Q8CIN8
Refseq NM_004972 (mRNA)
NP_004963 (protein)		 NM_001048177 (mRNA)
NP_001041642 (protein)
Location Chr 9: 4.98 - 5.12 Mb Chr 19: 29.32 - 29.38 Mb
Pubmed search [1] [2]

Jak2 has been implicated in signaling by members of the type II cytokine receptor family (e.g. interferon receptors), the GM-CSF receptor family (IL-3R, IL-5R and GM-CSF-R), the gp130 receptor family (e.g IL-6R), and the single chain receptors (e.g. Epo-R, Tpo-R, GH-R, PRL-R). JAK2 signaling is activated downstream from the prolactin receptor.[1] JAK2 gene fusions with the TEL(ETV6) (TEL-JAK2) and PCM1 genes have been found in leukemia patients.[2][3] Further, mutations in JAK2 have been implicated in polycythemia vera, essential thrombocythemia, and other myeloproliferative disorders.[4] This mutation, a change of valine to phenylalanine at the 617 position, appears to render hematopoietic cells more sensitive to growth factors such as erythropoietin and thrombopoietin. Loss of Jak2 is lethal by embryonic day 12 in mice.[5]

[edit] References

  1. ^ Bole-Feysot C, Goffin V, Edery M, Binart N, Kelly PA (1998). "Prolactin (PRL) and its receptor: actions, signal transduction pathways and phenotypes observed in PRL receptor knockout mice". Endocr. Rev. 19 (3): 225–68. PMID 9626554. 
  2. ^ Lacronique V, Boureux A, Valle VD, Poirel H, Quang CT, Mauchauffé M, Berthou C, Lessard M, Berger R, Ghysdael J, Bernard OA (1997). "A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia". Science 278 (5341): 1309–12. PMID 9360930. 
  3. ^ Reiter A, Walz C, Watmore A, Schoch C, Blau I, Schlegelberger B, Berger U, Telford N, Aruliah S, Yin JA, Vanstraelen D, Barker HF, Taylor PC, O'Driscoll A, Benedetti F, Rudolph C, Kolb HJ, Hochhaus A, Hehlmann R, Chase A, Cross NC (2005). "The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2". Cancer Res. 65 (7): 2662–7. doi:10.1158/0008-5472.CAN-04-4263. PMID 15805263. 
  4. ^ Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC (2005). "A gain-of-function mutation of JAK2 in myeloproliferative disorders". N. Engl. J. Med. 352 (17): 1779–90. doi:10.1056/NEJMoa051113. PMID 15858187. 
  5. ^ Neubauer H, Cumano A, Müller M, Wu H, Huffstadt U, Pfeffer K (1998). "Jak2 deficiency defines an essential developmental checkpoint in definitive hematopoiesis". Cell 93 (3): 397–409. PMID 9590174. 

[edit] Further reading

  • Berger R (2006). "[A recurrent mutation of the JAK2 gene in chronic myeloproliferative disorders]". Pathol. Biol. 54 (4): 182–4. doi:10.1016/j.patbio.2005.07.002. PMID 16084028. 
  • Pargade V, Darnige L, Gaussem P (2006). "[Acquired mutation of JAK2 tyrosine kinase and polycythaemia vera]". Ann. Biol. Clin. (Paris) 64 (1): 3–9. PMID 16420986. 
  • Staerk J, Kallin A, Royer Y, et al. (2007). "JAK2, the JAK2 V617F mutant and cytokine receptors.". Pathol. Biol. 55 (2): 88–91. doi:10.1016/j.patbio.2006.06.003. PMID 16904848. 
  • Hsu HC (2007). "Pathogenetic role of JAK2 V617F mutation in chronic myeloproliferative disorders.". Journal of the Chinese Medical Association : JCMA 70 (3): 89–93. PMID 17389152. 


[edit] External links


v • d • e
Kinases: tyrosine kinases (EC 2.7.10)
2.7.10.1
2.7.10.2
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