Janus Kinase 2

Alternative Names

JAK2
JAK2/ETV6 Fusion Gene

Length

143,794 bases

No. of Exons

No. of isoforms

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

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_004972.3:c.1597A>T	Lebanon	chr9:5070008		Likely Pathogenic	Leukemia, Acute Myeloid	NG_009904.1:g.89764A>T; NM_004972.3:c.1597A>T; NP_004963.1:p.Asn533Tyr
NM_004972.3:c.1849G>T	Lebanon	NC_000009.12:g.5073770G>T	Pathogenic, Uncertain Significance	Pathogenic	Myelofibrosis; Thrombocythemia 3; Budd-Chiari Syndrome; Polycythemia Vera	NG_009904.1:g.93526G>T; NM_004972.3:c.1849G>T; NP_004963.1:p.Val617Phe	77375493	14662

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Other Reports

Arab

Al-Shamsi et al. 2021 delineated the somatic mutational spectrum and frequency in Arab women with breast cancer. 78 women mostly with stage 3 or 4 breast cancer exhibited mutations and mutation rates in the following genes: TP53, 23.1%; ATM, 2.6%; IDH1, 2.6%; IDH2, 3.8%; PTEN, 7.7%; PIK3CA, 15.4%; APC, 7.7%; NPM1, 2.5%; MPL, 1.3%; JAK2, 2.5%; KIT, 7.7%; KRAS, 3.8%; and NRAS, 3.8%

External Links

https://ghr.nlm.nih.gov/gene/JAK2 https://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK2

Contributors

Sami Bizzari: 23.02.2022
Asha Deepthi: 06.05.2020
Pratibha Nair: 19.04.2020
Sayeeda Hana: 30.07.2019

Edit History

Pratibha Nair: 16.11.2022
Sami Bizzari: 23.02.2022
Pratibha Nair: 16.06.2021
Asha Deepthi: 06.05.2020
Pratibha Nair: 19.04.2020
Sayeeda Hana: 30.07.2019

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