GABRB3

GABRB3
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4COF
Identifiers
Aliases	GABRB3, ECA5, gamma-aminobutyric acid type A receptor beta3 subunit, EIEE43, gamma-aminobutyric acid type A receptor subunit beta3, DEE43
External IDs	OMIM: 137192; MGI: 95621; HomoloGene: 633; GeneCards: GABRB3; OMA:GABRB3 - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	26,939,539 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	57,478,550 bp
RNA expression pattern
	Top expressed in
	middle temporal gyrus; ; Brodmann area 23; ; entorhinal cortex; ; endothelial cell; ; parietal lobe; ; superior frontal gyrus; ; postcentral gyrus; ; lateral nuclear group of thalamus; ; islet of Langerhans; ; prefrontal cortex;
	Top expressed in
	olfactory tubercle; ; lateral septal nucleus; ; ventromedial nucleus; ; nucleus accumbens; ; anterior amygdaloid area; ; arcuate nucleus; ; mammillary body; ; subiculum; ; olfactory bulb; ; globus pallidus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	GABA-A receptor activity; ion channel activity; chloride channel activity; extracellular ligand-gated ion channel activity; GABA-gated chloride ion channel activity; identical protein binding; transmembrane signaling receptor activity; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential;
Cellular component	integral component of membrane; postsynaptic membrane; membrane; synapse; integral component of plasma membrane; chloride channel complex; cell junction; GABA-A receptor complex; plasma membrane; cytoplasmic vesicle membrane; cytoplasmic vesicle; neuron projection; GABA-ergic synapse;
Biological process	negative regulation of neuron apoptotic process; cochlea development; roof of mouth development; inhibitory postsynaptic potential; regulation of neuron apoptotic process; neuron development; hearing; ion transport; inner ear receptor cell development; chloride transport; innervation; signal transduction; negative regulation of neuron death; cellular response to histamine; chloride transmembrane transport; gamma-aminobutyric acid signaling pathway; ion transmembrane transport; chemical synaptic transmission; regulation of membrane potential; nervous system process; inhibitory synapse assembly;
	Sources:Amigo / QuickGO
Orthologs
	2562
	14402
	ENSG00000166206
	ENSMUSG00000033676
	P28472
	P63080
	NM_000814; NM_001191320; NM_001191321; NM_001278631; NM_021912
	NM_001038701; NM_008071
	NP_000805; NP_001178249; NP_001178250; NP_001265560; NP_068712
	NP_001033790; NP_032097
	Wikidata
View/Edit Human	View/Edit Mouse

Gamma-aminobutyric acid receptor subunit beta-3 is a protein that in humans is encoded by the GABRB3 gene. It is located within the 15q12 region in the human genome and spans 250kb. This gene includes 10 exons within its coding region. Due to alternative splicing, the gene codes for many protein isoforms, all being subunits in the GABA_A receptor, a ligand-gated ion channel. The beta-3 subunit is expressed at different levels within the cerebral cortex, hippocampus, cerebellum, thalamus, olivary body and piriform cortex of the brain at different points of development and maturity. GABRB3 deficiencies are implicated in many human neurodevelopmental disorders and syndromes such as Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. The effects of methaqualone and etomidate are mediated through GABBR3 positive allosteric modulation.