Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Gabrb3. (This text reflects annotations as of Tuesday, May 21, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of the family. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2010]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Gabrb3
  • participates in the following biological processes:
    • cochlea development ^[1]
    • inner ear receptor cell development ^[1]
    • innervation ^[1]
    • negative regulation of neuron apoptotic process ^[1]
    • negative regulation of neuron death ^[1]
    • neuron development ^[1]
    • regulation of neuron apoptotic process ^[1]
    • sensory perception of sound ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Gabrb3:
  • participates in the following biological processes:
    • gamma-aminobutyric acid signaling pathway
    • synaptic transmission, GABAergic
  • performs the following molecular functions:
    • AP-2 adaptor complex binding
    • chloride channel activity
    • GABA-A receptor activity
  • is located in the following cellular components:
    • inhibitory synapse
    • plasma membrane
    • terminal bouton

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Summary text based on GO annotations supported by structural data

• Gabrb3 encodes a protein or proteins that contain the following InterPro domains: Gamma-aminobutyric acid A receptor, Gamma-aminobutyric-acid A receptor, beta subunit, Neurotransmitter-gated ion-channel, Neurotransmitter-gated ion-channel ligand-binding, Neurotransmitter-gated ion-channel transmembrane domain, Neurotransmitter-gated ion-channel, conserved site, indicating that the gene product:
  • participates in the following biological processes:
    • ion transport
    • transport
  • performs the following molecular functions:
    • extracellular ligand-gated ion channel activity
    • ion channel activity
  • is located in the following cellular components:
    • integral to membrane
    • membrane
    • postsynaptic membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Gabrb3 indicates that it:
  • participates in the following biological processes:
    • chloride transport
    • ion transport
    • transport
  • is located in the following cellular components:
    • cell junction
    • chloride channel complex
    • integral to membrane
    • membrane
    • postsynaptic membrane
    • synapse

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References

1. Maison SF et al. (2006) Functional role of GABAergic innervation of the cochlea: phenotypic analysis of mice lacking GABA(A) receptor subunits alpha1, alpha2, alpha5, alpha6, beta2, beta3, or delta. J Neurosci, 26:10315-26. (PubMed:17021187)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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