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Gabrb3 gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 [ Mus musculus (house mouse) ]

Gene ID: 14402, updated on 29-Jan-2023

Summary

Official Symbol
Gabrb3provided by MGI
Official Full Name
gamma-aminobutyric acid (GABA) A receptor, subunit beta 3provided by MGI
Primary source
MGI:MGI:95621
See related
Ensembl:ENSMUSG00000033676 AllianceGenome:MGI:95621
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Cp1; beta3; Gabrb-3; A230092K12Rik
Summary
Enables GABA-A receptor activity and transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential. Contributes to GABA-gated chloride ion channel activity. Involved in several processes, including chloride transmembrane transport; inner ear development; and nervous system development. Acts upstream of or within several processes, including cellular response to zinc ion; circadian sleep/wake cycle, REM sleep; and learning or memory. Located in GABA-ergic synapse and plasma membrane. Part of GABA-A receptor complex. Is active in cell surface. Is expressed in several structures, including central nervous system; eye; jaw; and olfactory epithelium. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in childhood absence epilepsy and developmental and epileptic encephalopathy 43. Orthologous to human GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in frontal lobe adult (RPKM 26.3), cortex adult (RPKM 19.2) and 6 other tissues See more
Orthologs
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Genomic context

See Gabrb3 in Genome Data Viewer
Location:
7 B5; 7 33.53 cM
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (57240266..57478550)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (57590518..57828802)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid (GABA) A receptor, subunit gamma 3 Neighboring gene predicted gene 9962 Neighboring gene gamma-aminobutyric acid (GABA) A receptor, subunit alpha 5 Neighboring gene microRNA 6389 Neighboring gene predicted gene, 34272 Neighboring gene DEP domain containing 1a pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (8)  1 citation
  • Endonuclease-mediated (3) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables AP-2 adaptor complex binding ISO
Inferred from Sequence Orthology
more info
 
enables GABA-A receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables GABA-A receptor activity ISO
Inferred from Sequence Orthology
more info
PubMed 
contributes_to GABA-gated chloride ion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables GABA-gated chloride ion channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables GABA-gated chloride ion channel activity ISO
Inferred from Sequence Orthology
more info
 
enables chloride channel activity ISO
Inferred from Sequence Orthology
more info
 
enables extracellular ligand-gated monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables monoatomic ion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IDA
Inferred from Direct Assay
more info
PubMed 
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to histamine ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cellular response to zinc ion IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within cerebellum development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within chemical synaptic transmission, postsynaptic IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chloride transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chloride transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within chloride transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within circadian sleep/wake cycle, REM sleep IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cochlea development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within exploration behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within gamma-aminobutyric acid signaling pathway ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in gamma-aminobutyric acid signaling pathway ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within hard palate development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within hard palate development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in inhibitory postsynaptic potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in inhibitory synapse assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in inhibitory synapse assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in inner ear receptor cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in innervation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within memory IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in monoatomic ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within monoatomic ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within motor behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of neuron death IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neuron development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of postsynaptic membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within reproductive behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to anesthetic IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to xenobiotic stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in roof of mouth development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within social behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in synaptic transmission, GABAergic ISO
Inferred from Sequence Orthology
more info
 
involved_in synaptic transmission, GABAergic NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
part_of GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of GABA-A receptor complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of GABA-A receptor complex ISO
Inferred from Sequence Orthology
more info
 
is_active_in GABA-ergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in GABA-ergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in GABA-ergic synapse ISO
Inferred from Sequence Orthology
more info
 
is_active_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in inhibitory synapse ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in postsynaptic membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in postsynaptic specialization membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in terminal bouton ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
gamma-aminobutyric acid receptor subunit beta-3
Names
GABA(A) receptor subunit beta-3
cleft palate 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001038701.2NP_001033790.1  gamma-aminobutyric acid receptor subunit beta-3 isoform b precursor

    See identical proteins and their annotated locations for NP_001033790.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon at its 5' end and initiates translation at an alternate start codon compared to variant 1. The resulting protein (isoform b) is the same length but has a distinct N-terminus compared to isoform a.
    Source sequence(s)
    AC158300, AK083107
    Consensus CDS
    CCDS21323.1
    UniProtKB/TrEMBL
    A0A6P5PZZ1, A0A8C6HBE5, Q8C446
    Related
    ENSMUSP00000143353.2, ENSMUST00000196198.5
    Conserved Domains (1) summary
    TIGR00860
    Location:4471
    LIC; Cation transporter family protein
  2. NM_008071.3NP_032097.1  gamma-aminobutyric acid receptor subunit beta-3 isoform a precursor

    See identical proteins and their annotated locations for NP_032097.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    AC158300, AK083051, AK147247
    Consensus CDS
    CCDS21324.1
    UniProtKB/Swiss-Prot
    P63080, Q3UHR3
    UniProtKB/TrEMBL
    A0A6P5Q1R7, A0A8C6HBG4
    Related
    ENSMUSP00000038051.8, ENSMUST00000039697.14
    Conserved Domains (1) summary
    TIGR00860
    Location:10471
    LIC; Cation transporter family protein

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    57240266..57478550
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)