Janus kinase 2

Source: Wikipedia, the free encyclopedia.
JAK2
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_001048177
NM_008413

RefSeq (protein)

NP_001041642
NP_032439

Location (UCSC)Chr 9: 4.98 – 5.13 MbChr 19: 29.23 – 29.29 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Janus kinase 2 (commonly called JAK2) is a

The distinguishing feature between janus kinase 2 and other JAK kinases is the lack of Src homology binding domains (SH2/SH3) and the presence of up to seven JAK homology domains (JH1-JH7). Nonetheless the terminal JH domains retain a high level of homology to tyrosine kinase domains. An interesting note is that only one of these carboxy-terminal JH domains retains full kinase function (JH1) while the other (JH2), previously thought to have no kinase functionality and accordingly termed a pseudokinase domain, has since been found to be catalytically active, albeit at only 10% that of the JH1 domain.[7][8]

Loss of Jak2 is lethal by embryonic day 12 in mice.[9]

JAK2

mammals
for which complete genome data are available.

Clinical significance

JAK2 gene fusions with the TEL(ETV6) (

clonal eosinophilia forms of the disease.[11][12][13]

Mutations in JAK2 have been implicated in

hematopoietic cells more sensitive to growth factors such as erythropoietin and thrombopoietin
, because the receptors for these growth factors require JAK2 for signal transduction. Jak2 mutation, when demonstrable, is one of the methods of diagnosing polycythemia vera.[15]

Interactions

Janus kinase 2 has been shown to

interact
with:

Prolactin signals through JAK2 are dependent on STAT5, and on the RUSH transcription factors.[59]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000096968Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024789Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. PMID 9626554
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  10. ^ "OrthoMaM phylogenetic marker: JAK2 coding sequence".[permanent dead link]
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Further reading

External links