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.^[5] This gene includes 10 exons within its coding region.^[5] 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.^[6] 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^[7] and etomidate are mediated through GABBR3 positive allosteric modulation.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000166206 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000033676 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b Glatt K, Glatt H, Lalande M (April 1997). "Structure and organization of GABRB3 and GABRA5". Genomics. 41 (1): 63–69. doi:10.1006/geno.1997.4639. PMID 9126483.
^ Cook EH, Courchesne RY, Cox NJ, Lord C, Gonen D, Guter SJ, Lincoln A, Nix K, Haas R, Leventhal BL, Courchesne E (May 1998). "Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers". American Journal of Human Genetics. 62 (5): 1077–1083. doi:10.1086/301832. PMC 1377089. PMID 9545402.
^ Hammer H, Bader BM, Ehnert C, Bundgaard C, Bunch L, Hoestgaard-Jensen K, Schroeder OH, Bastlund JF, Gramowski-Voß A, Jensen AA (August 2015). "A Multifaceted GABAA Receptor Modulator: Functional Properties and Mechanism of Action of the Sedative-Hypnotic and Recreational Drug Methaqualone (Quaalude)". Molecular Pharmacology. 88 (2): 401–420. doi:10.1124/mol.115.099291. PMC 4518083. PMID 26056160.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000166206 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000033676 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Glatt_1997-5] Glatt K, Glatt H, Lalande M (April 1997). "Structure and organization of GABRB3 and GABRA5". Genomics. 41 (1): 63–69. doi:10.1006/geno.1997.4639. PMID 9126483.

[Cook_1998-6] Cook EH, Courchesne RY, Cox NJ, Lord C, Gonen D, Guter SJ, Lincoln A, Nix K, Haas R, Leventhal BL, Courchesne E (May 1998). "Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers". American Journal of Human Genetics. 62 (5): 1077–1083. doi:10.1086/301832. PMC 1377089. PMID 9545402.

[7] Hammer H, Bader BM, Ehnert C, Bundgaard C, Bunch L, Hoestgaard-Jensen K, Schroeder OH, Bastlund JF, Gramowski-Voß A, Jensen AA (August 2015). "A Multifaceted GABAA Receptor Modulator: Functional Properties and Mechanism of Action of the Sedative-Hypnotic and Recreational Drug Methaqualone (Quaalude)". Molecular Pharmacology. 88 (2): 401–420. doi:10.1124/mol.115.099291. PMC 4518083. PMID 26056160.

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