GABRB3

Gamma-aminobutyric acid (GABA) A receptor, beta 3
Identifiers
Symbols	GABRB3 ; MGC9051
External IDs	Template:OMIM5 Template:MGI HomoloGene: 633
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Gamma-aminobutyric acid (GABA) A receptor, beta 3, also known as GABRB3, is a human gene.

This gene encodes a member of the ligand-gated ionic 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. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. Alternatively spliced transcript variants encoding isoforms with distinct signal peptides have been described.

See also

• GABAA receptor

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. PMID 1346439.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 1664410.CS1 maint: Multiple names: authors list (link)
• 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. PMID 1714232.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 8389098.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 9328477.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Russek SJ (1999). "Evolution of GABA(A) receptor diversity in the human genome". Gene. 227 (2): 213–22. 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. PMID 11085308.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. 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. PMID 12367595.CS1 maint: Multiple names: authors list (link)
• 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. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 12595241.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

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.