Version: 8.0.0
Date: Tue Jan 28 2025
JAK2
Homo sapiensHGNC:6192
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

JAK2

Species
Homo sapiens
Symbol
JAK2
Name
Janus kinase 2
Synonyms
  • JAK-2
  • Janus kinase 2 (a protein tyrosine kinase)
Biotype
protein coding gene
Automated Description
Enables several functions, including SH2 domain binding activity; heme binding activity; and protein tyrosine kinase activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of lymphocyte proliferation; and positive regulation of type II interferon production. Acts upstream of or within positive regulation of SMAD protein signal transduction; positive regulation of platelet activation; and response to antibiotic. Located in several cellular components, including focal adhesion; nucleoplasm; and plasma membrane. Part of granulocyte macrophage colony-stimulating factor receptor complex. Is active in cytoplasmic side of plasma membrane. Is extrinsic component of cytoplasmic side of plasma membrane. Implicated in several diseases, including gastrointestinal system cancer (multiple); hematologic cancer (multiple); hepatic vascular disease (multiple); inflammatory bowel disease (multiple); and lung non-small cell carcinoma (multiple). Biomarker of several diseases, including bacterial gastritis; gastrointestinal system cancer (multiple); limited scleroderma; liver cirrhosis (multiple); and obesity.
RGD Description
This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required for erythropoietin receptor association, an SH2 domain that binds STAT transcription factors, a pseudokinase domain and a C-terminal tyrosine kinase domain. Cytokine binding induces autophosphorylation and activation of this kinase. This kinase then recruits and phosphorylates signal transducer and activator of transcription (STAT) proteins. Growth factors like TGF-beta 1 also induce phosphorylation and activation of this kinase and translocation of downstream STAT proteins to the nucleus where they influence gene transcription. Mutations in this gene are associated with numerous inflammatory diseases and malignancies. This gene is a downstream target of the pleiotropic cytokine IL6 that is produced by B cells, T cells, dendritic cells and macrophages to produce an immune response or inflammation. Disregulation of the IL6/JAK2/STAT3 signalling pathways produces increased cellular proliferation and myeloproliferative neoplasms of hematopoietic stem cells. A nonsynonymous mutation in the pseudokinase domain of this gene disrupts the domains inhibitory effect and results in constitutive tyrosine phosphorylation activity and hypersensitivity to cytokine signalling. This gene and the IL6/JAK2/STAT3 signalling pathway is a therapeutic target for the treatment of excessive inflammatory responses to viral infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45807
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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    Allele Synonyms
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    Variant type
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
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      Knock-down targets
      Regulatory regions
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        Models

        Model name
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          JAK2 molecule type
          Interactor gene
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          Interactor molecule type
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            Genetic Interactions

            JAK2 role
            JAK2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
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