GABRB3

gamma-aminobutyric acid (GABA) A receptor, beta 3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4COF
Identifiers
Aliases	GABRB3, ECA5
External IDs	MGI: 95621 HomoloGene: 633 GeneCards: 2562
Gene ontology Molecular function • GABA-A receptor activity • ion channel activity • GABA-gated chloride ion channel activity • chloride channel activity • extracellular ligand-gated ion channel activity Cellular component • integral component of membrane • GABA-A receptor complex • postsynaptic membrane • membrane • plasma membrane • synapse • integral component of plasma membrane • chloride channel complex • cell junction Biological process • negative regulation of neuron apoptotic process • cochlea development • synaptic transmission • palate development • inhibitory postsynaptic potential • regulation of neuron apoptotic process • neuron development • chloride transmembrane transport • sensory perception of sound • ion transport • ion transmembrane transport • inner ear receptor cell development • transmembrane transport • transport • chloride transport • innervation • signal transduction • negative regulation of neuron death • cellular response to histamine Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2562	14402
Ensembl	ENSG00000166206	ENSMUSG00000033676
UniProt	P28472	P63080
RefSeq (mRNA)	NM_000814 NM_001191320 NM_001191321 NM_001278631 NM_021912	NM_001038701 NM_008071
RefSeq (protein)	NP_000805.1 NP_001178249.1 NP_001178250.1 NP_001265560.1 NP_068712.1	NP_032097.1
Location (UCSC)	Chr 15: 26.54 – 26.94 Mb	Chr 7: 57.42 – 57.83 Mb
PubMed search	[1]	[2]
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.

Function

This gene encodes a member of the ligand-gated ion channel family. The encoded protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of the family. Alternatively spliced transcript variants encoding isoforms with distinct signal peptides have been described.

Structure

The crystal structure of a human β3 homopentamer was published in 2014.

Clinical significance

Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. The GABRB3 gene has been associated with savant skills accompanying such disorders. The GABRB3 gene deficient mouse has been proposed as a model of autism spectrum disorder.

Interactions

GABRB3 has been shown to interact with AKAP5.

See also

• GABAA receptor
• Heritability of autism

Further reading

• Saitoh S, Kubota T, Ohta T, et al. (1992). "Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene.". Lancet 339 (8789): 366–7. doi:10.1016/0140-6736(92)91686-3. PMID 1346439. 
• Wagstaff J, Chaillet JR, Lalande M (1992). "The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7.". Genomics 11 (4): 1071–8. doi:10.1016/0888-7543(91)90034-C. PMID 1664410. 
• Wagstaff J, Knoll JH, Fleming J, et al. (1991). "Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15.". Am. J. Hum. Genet. 49 (2): 330–7. PMC 1683305. PMID 1714232. 
• Russek SJ, Farb DH (1995). "Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABAA receptor isoform.". Genomics 23 (3): 528–33. doi:10.1006/geno.1994.1539. PMID 7851879. 
• Knoll JH, Cheng SD, Lalande M (1994). "Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region.". Nat. Genet. 6 (1): 41–6. doi:10.1038/ng0194-41. PMID 8136833. 
• Tögel M, Mossier B, Fuchs K, Sieghart W (1994). "gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties.". J. Biol. Chem. 269 (17): 12993–8. PMID 8175718. 
• Kirkness EF, Fraser CM (1993). "A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type A receptor beta 3 subunit (GABRB3).". J. Biol. Chem. 268 (6): 4420–8. PMID 8382702. 
• Sinnett D, Wagstaff J, Glatt K, et al. (1993). "High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients.". Am. J. Hum. Genet. 52 (6): 1216–29. PMC 1682269. PMID 8389098. 
• Glatt K, Glatt H, Lalande M (1997). "Structure and organization of GABRB3 and GABRA5.". Genomics 41 (1): 63–9. doi:10.1006/geno.1997.4639. PMID 9126483. 
• Meguro M, Mitsuya K, Sui H, et al. (1997). "Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer.". Hum. Mol. Genet. 6 (12): 2127–33. doi:10.1093/hmg/6.12.2127. PMID 9328477. 
• Russek SJ (1999). "Evolution of GABA(A) receptor diversity in the human genome.". Gene 227 (2): 213–22. doi:10.1016/S0378-1119(98)00594-0. PMID 10023064. 
• Buckley ST, Eckert AL, Dodd PR (2006). "Expression and distribution of GABAA receptor subtypes in human alcoholic cerebral cortex.". Ann. N. Y. Acad. Sci. 914: 58–64. doi:10.1111/j.1749-6632.2000.tb05183.x. PMID 11085308. 
• Scapoli L, Martinelli M, Pezzetti F, et al. (2002). "Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate.". Hum. Genet. 110 (1): 15–20. doi:10.1007/s00439-001-0639-5. PMID 11810291. 
• Buxbaum JD, Silverman JM, Smith CJ, et al. (2002). "Association between a GABRB3 polymorphism and autism.". Mol. Psychiatry 7 (3): 311–6. doi:10.1038/sj.mp.4001011. PMID 11920158. 
• Buhr A, Bianchi MT, Baur R, et al. (2002). "Functional characterization of the new human GABA(A) receptor mutation beta3(R192H).". Hum. Genet. 111 (2): 154–60. doi:10.1007/s00439-002-0766-7. PMID 12189488. 
• Trudell J (2002). "Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling.". Biochim. Biophys. Acta 1565 (1): 91–6. doi:10.1016/S0005-2736(02)00512-6. PMID 12225856. 
• Sarto I, Wabnegger L, Dögl E, Sieghart W (2002). "Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly.". Neuropharmacology 43 (4): 482–91. doi:10.1016/S0028-3908(02)00160-0. PMID 12367595. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. 
• Słopień A, Rajewski A, Budny B, Czerski P (2003). "[Evaluation of q11-q13 locus of chromosome 15 aberrations and polymorphisms in the B3 subunit of the GABA-A receptor gene (GABRB3) in autistic patients]". Psychiatr. Pol. 36 (5): 779–91. PMID 12491987. 
• Brandon NJ, Jovanovic JN, Colledge M, et al. (2003). "A-kinase anchoring protein 79/150 facilitates the phosphorylation of GABA(A) receptors by cAMP-dependent protein kinase via selective interaction with receptor beta subunits.". Mol. Cell. Neurosci. 22 (1): 87–97. doi:10.1016/S1044-7431(02)00017-9. PMID 12595241. 

External links

• GABRB3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.