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Gene : JAK3 Homo sapiens

Name  ? Janus kinase 3 Cytological Location  19p13.11
Brief Description  Janus kinase 3
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 (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]
  • synonyms:
  • OTTHUMG00000165648,
  • JAK-3,
  • tyrosine-protein kinase JAK3,
  • JAK3,
  • LJAK,
  • JAKL,
  • U31601,
  • uc002nhn.5,
  • L-JAK,
  • NM_000215,
  • JAK-3,
  • JAK3_HUMAN,
  • JAK3_HUMAN,
  • LJAK,
  • L-JAK,
  • HGNC:6193,
  • JAKL,
  • leukocyte Janus kinase
  • identifiers:
  • 3718,
  • ENSG00000105639,
  • JAK3

Genome feature

Region: gene ? Length: 23290  
Location: 19:17824782-17848071 reverse strand Cyto location: 19p13.11


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

56 SN Ps

5 Cross References

19 Data Sets

9 Homologues

0 Located Features

90 Rna Seq Results