Version: 8.0.0
Date: Tue Jan 28 2025
GABRA4
Homo sapiensHGNC:4078
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

GABRA4

Species
Homo sapiens
Symbol
GABRA4
Name
gamma-aminobutyric acid type A receptor subunit alpha4
Synonyms
  • GABA(A) receptor subunit alpha-4
  • GABA(A) receptor, alpha 4
Biotype
protein coding gene
Automated Description
Predicted to enable GABA-gated chloride ion channel activity. Predicted to contribute to GABA-A receptor activity; benzodiazepine receptor activity; and chloride channel activity. Involved in chloride transmembrane transport and gamma-aminobutyric acid signaling pathway. Part of GABA-A receptor complex. Implicated in autistic disorder. Biomarker of autistic disorder.
RGD Description
Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR18945
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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

    Allele/Variant Symbol
    Allele Synonyms
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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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        Models

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        Experimental condition
        Associated Human Diseases
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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

          GABRA4 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
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            Genetic Interactions

            GABRA4 role
            GABRA4 genetic perturbation
            Interactor gene
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            Interactor role
            Interactor genetic perturbation
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            Phenotype or trait
            Source
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