Janus Kinase 2

Alternative Names

  • JAK2
  • JAK2/ETV6 Fusion Gene
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OMIM Number

147796

NCBI Gene ID

3717

Uniprot ID

O60674

Length

143,794 bases

No. of Exons

26

No. of isoforms

1

Protein Name

Tyrosine-Protein Kinase JAK2

Molecular Mass

130674 Da

Amino Acid Count

1132

Genomic Location

chr9:4,984,390-5,128,183

Gene Map Locus
9p24.1

Description

The JAK2 gene encodes a tyrosine kinase belonging to the Janus Kinase (JAK) family. These JAK proteins associate with cytokine receptors and initiate the JAK-STAT signalling pathway. The JAK2 protein is found to play a role in several biological processes including cell growth, development, migration, apoptosis and differentiation. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_004972.3:c.1597A>TLebanonchr9:5070008Likely PathogenicLeukemia, Acute MyeloidNG_009904.1:g.89764A>T; NM_004972.3:c.1597A>T; NP_004963.1:p.Asn533Tyr
NM_004972.3:c.1849G>TLebanonchr9:5073770PathogenicThrombocythemia 3; Budd-Chiari Syndrome; Polycythemia Vera; Myeloproliferative Disorder, UnclassifiedNG_009904.1:g.93526G>T; NM_004972.3:c.1849G>T; NP_004963.1:p.Val617Phe7737549314662
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