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

Mus musculus

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

Gene ID: 14402 | Gene type: protein coding

About Gabrb3

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	Reference	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	Reference	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	Reference	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

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

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