Version: 8.0.0
Date: Tue Jan 28 2025
EIF2AK2
Homo sapiensHGNC:9437
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

EIF2AK2

Species
Homo sapiens
Symbol
EIF2AK2
Name
eukaryotic translation initiation factor 2 alpha kinase 2
Synonyms
  • double stranded RNA activated protein kinase
  • DYT33
Biotype
protein coding gene
Automated Description
Enables double-stranded RNA binding activity; eukaryotic translation initiation factor 2alpha kinase activity; and identical protein binding activity. Involved in several processes, including antiviral innate immune response; negative regulation of osteoblast proliferation; and regulation of gene expression. Located in cytosol and perinuclear region of cytoplasm. Is active in cytoplasm. Implicated in Alzheimer's disease; Huntington's disease; Parkinson's disease; dystonia 33; and hepatitis B. Biomarker of amyotrophic lateral sclerosis.
RGD Description
The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. The encoded protein plays an important role in the innate immune response against multiple DNA and RNA viruses. [provided by RefSeq, Jul 2021]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11042
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          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

          EIF2AK2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            EIF2AK2 role
            EIF2AK2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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