Gabrb3 - gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 Gene

Also Known as Cp1; beta3; Gabrb-3; A230092K12Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 14402

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]

Gabrb3 Products (2)

mRNA Protein Name
NM_001038701.2 NP_001033790.1 gamma-aminobutyric acid receptor subunit beta-3 isoform b precursor
NM_008071.3 NP_032097.1 gamma-aminobutyric acid receptor subunit beta-3 isoform a precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables GABA-A receptor activity IMP
IMP: Inferred from mutant phenotype
9108119 MGI
contributes to GABA-gated chloride ion channel activity IDA
IDA: Inferred from direct assay
27129275 MGI
enables GABA-gated chloride ion channel activity IMP
IMP: Inferred from mutant phenotype
9108119 MGI
enables monoatomic ion channel activity IDA
IDA: Inferred from direct assay
12183328 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
28978485 MGI
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IDA
IDA: Inferred from direct assay
12522165 MGI
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IMP
IMP: Inferred from mutant phenotype
12522165 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within brain development IMP
IMP: Inferred from mutant phenotype
16168624 MGI
acts upstream of or within cellular response to zinc ion IDA
IDA: Inferred from direct assay
12183328 MGI
acts upstream of or within cerebellum development IMP
IMP: Inferred from mutant phenotype
17983671 MGI
involved in chloride transmembrane transport IMP
IMP: Inferred from mutant phenotype
9108119 MGI
acts upstream of or within circadian sleep/wake cycle, REM sleep IMP
IMP: Inferred from mutant phenotype
12419540 MGI
involved in cochlea development IMP
IMP: Inferred from mutant phenotype
17021187 MGI
acts upstream of or within exploration behavior IMP
IMP: Inferred from mutant phenotype
17983671 MGI
acts upstream of or within hard palate development IDA
IDA: Inferred from direct assay
7581464 MGI
acts upstream of or within hard palate development IMP
IMP: Inferred from mutant phenotype
7581464 MGI
involved in inhibitory postsynaptic potential IMP
IMP: Inferred from mutant phenotype
19846622 MGI
involved in inhibitory synapse assembly IDA
IDA: Inferred from direct assay
27129275 MGI
involved in inner ear receptor cell development IMP
IMP: Inferred from mutant phenotype
17021187 MGI
involved in innervation IMP
IMP: Inferred from mutant phenotype
17021187 MGI
acts upstream of or within learning IMP
IMP: Inferred from mutant phenotype
9763493 MGI
acts upstream of or within memory IMP
IMP: Inferred from mutant phenotype
9763493 MGI
acts upstream of or within motor behavior IMP
IMP: Inferred from mutant phenotype
9763493 MGI
acts upstream of or within nervous system development IMP
IMP: Inferred from mutant phenotype
9763493 MGI
involved in neuron development IMP
IMP: Inferred from mutant phenotype
17021187 MGI
acts upstream of or within reproductive behavior IMP
IMP: Inferred from mutant phenotype
17927825 MGI
acts upstream of or within response to anesthetic IMP
IMP: Inferred from mutant phenotype
16871063 MGI
acts upstream of or within response to xenobiotic stimulus IMP
IMP: Inferred from mutant phenotype
16168624 MGI
involved in roof of mouth development IMP
IMP: Inferred from mutant phenotype
9108119 MGI
acts upstream of or within social behavior IMP
IMP: Inferred from mutant phenotype
17983671 MGI
Cellular Component GO Annotation Evidence References Source
part of GABA-A receptor complex IMP
IMP: Inferred from mutant phenotype
9108119 MGI
is active in GABA-ergic synapse IDA
IDA: Inferred from direct assay
12522165 MGI
is active in GABA-ergic synapse IMP
IMP: Inferred from mutant phenotype
12522165 MGI
is active in cell surface IDA
IDA: Inferred from direct assay
12183328 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

gamma-aminobutyric acid receptor subunit beta-3

  • GABA(A) receptor subunit beta-3

  • cleft palate 1

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS05217 GABRB3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Gabrb3 NCBI NCBI:2562