Version: 8.0.0
Date: Tue Jan 28 2025
EIF2AK3
Homo sapiensHGNC:3255
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

EIF2AK3

Species
Homo sapiens
Symbol
EIF2AK3
Name
eukaryotic translation initiation factor 2 alpha kinase 3
Synonyms
  • DKFZp781H1925
  • eukaryotic translation initiation factor 2-alpha kinase 3
Biotype
protein coding gene
Automated Description
Enables several functions, including eukaryotic translation initiation factor 2alpha kinase activity; identical protein binding activity; and misfolded protein binding activity. Involved in several processes, including ER-nucleus signaling pathway; positive regulation of macromolecule biosynthetic process; and protein phosphorylation. Located in membrane. Is active in mitochondria-associated endoplasmic reticulum membrane contact site. Implicated in Wolcott-Rallison syndrome and type 1 diabetes mellitus.
RGD Description
The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]
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

          EIF2AK3 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            EIF2AK3 role
            EIF2AK3 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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