JAK3 Janus kinase 3

Gene ID: 3718, updated on 14-Nov-2024
Gene type: protein coding
Also known as: JAKL; LJAK; JAK-3; L-JAK; JAK3_HUMAN

Summary

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 (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
T-B+ severe combined immunodeficiency due to JAK3 deficiency MedGen: C1833275OMIM: 600802GeneReviews: Not available	See labs

Genomic context

Location:: 19p13.11

Sequence:: Chromosome: 19; NC_000019.10 (17824782..17847982, complement)

Total number of exons:: 24

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for JAK3 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

Catalogue of Somatic Mutations in Cancer (COSMIC)
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
JAK3 database
JAK3base: Mutation registry for autosomal recessive severe combined JAK3 deficiency
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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