Version: 8.0.0
Date: Tue Jan 28 2025
Gabrb2
Mus musculusMGI:95620
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Gabrb2

Species
Mus musculus
Symbol
Gabrb2
Name
gamma-aminobutyric acid type A receptor subunit beta 2
Synonyms
  • AI834970
  • C030002O17Rik
Biotype
protein coding gene
Automated Description
Enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Contributes to GABA-gated chloride ion channel activity. Involved in inner ear development and nervous system development. Is active in GABA-ergic synapse and postsynaptic specialization membrane. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autistic disorder and developmental and epileptic encephalopathy 92. Orthologous to human GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2).
MGI Description
PHENOTYPE: Homozygotes for a null allele show hyperactivity and abnormal GABA-mediated receptor currents. Homozygotes for a derivative of this allele show a sexually dimorphic cochlear phenotype associated with OHC dysfunction. Homozygotes for a knock-in allele show altered behavioral response to etomidate. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR18945
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
Other Sources
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Annotation details
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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
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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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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Gabrb2 molecule type
          Interactor gene
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          Interactor molecule type
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            Genetic Interactions

            Gabrb2 role
            Gabrb2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
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