Janus Kinase 3

Alternative Names

JAK3
Janus Kinase, Leukocyte
JAKL
LJAK

Length

23,292 bases

No. of Exons

No. of isoforms

Protein Name

Tyrosine-protein kinase JAK3

Molecular Mass

125099 Da

Amino Acid Count

1124

Genomic Location

chr19:17,824,780-17,848,071

Gene Map Locus

19p13.11

Description

The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000215.3:c.2141C>T	Lebanon	chr19:17834910		Pathogenic	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative	NG_007273.1:g.18082C>T; NM_000215.3:c.2141C>T; NP_000206.2:p.Thr714Met	140655992

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External Links

https://ghr.nlm.nih.gov/gene/JAK3 https://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK3 https://www.ncbi.nlm.nih.gov/gene?term=3718

Contributors

Pratibha Nair: 26.04.2020

Edit History

Pratibha Nair: 26.04.2020

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