Version: 8.0.0
Date: Tue Jan 28 2025
IKBKG
Homo sapiensHGNC:5961
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

IKBKG

Species
Homo sapiens
Symbol
IKBKG
Name
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
Synonyms
  • 14.7K (adenovirus E3 protein) interacting protein 3
  • AMCBX1
Biotype
protein coding gene
Automated Description
Enables several functions, including K63-linked polyubiquitin modification-dependent protein binding activity; linear polyubiquitin binding activity; and protein dimerization activity. Involved in several processes, including canonical NF-kappaB signal transduction; positive regulation of T cell receptor signaling pathway; and regulation of DNA-templated transcription. Acts upstream of or within positive regulation of canonical NF-kappaB signal transduction. Located in cytoplasm; nucleus; and spindle. Part of IkappaB kinase complex and ubiquitin ligase complex. Is active in cytosol. Implicated in Behcet's disease; Bloch-Sulzberger syndrome; X-linked recessive disease (multiple); learning disability; and liver cancer. Biomarker of hepatocellular carcinoma.
RGD Description
This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR31553
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
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

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

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

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