GABRB3

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Gamma-aminobutyric acid (GABA) A receptor, beta 3
Identifiers
Symbols GABRB3; MGC9051
External IDs OMIM: 137192 MGI: 95621 HomoloGene: 633
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2562 14402
Ensembl ENSG00000166206 ENSMUSG00000033676
Uniprot P28472 P63080
Refseq NM_000814 (mRNA)
NP_000805 (protein)		 NM_001038701 (mRNA)
NP_001033790 (protein)
Location Chr 15: 24.34 - 24.77 Mb Chr 7: 57.46 - 57.7 Mb
Pubmed search [1] [2]

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.[1]

Contents

See also

References

  1. ^ "Entrez Gene: GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3".

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. 
  • 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. 
  • 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. 
  • 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. 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. PMID 9328477. 
  • 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. 
  • 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. 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. 
  • 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. 
  • 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. PMID 12595241. 

External links

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v • d • e
Ion channel, receptor: ligand-gated ion channels
Cys-loop receptors
5-HT3 (A, B, C, D, E)
GABA A (α1, α2, α3, α4, α5, α6, β1, β2, β3, γ1, γ2, γ3, δ, ε, π, θ) • GABA C (ρ1, ρ2, ρ3)
α1 • α2 • α3 • α4 • β
monomers: α1 • α2 • α3 • α4 • α5 • α6 • α7 • α9 • α10 • β1 • β2 • β3 • β4 • δ • ε
pentamers: (α4)2(β2)3 • (α7)5 • (α1)2(β4)3 - Ganglion type • (α1)2β1δε - Muscle type
Ionotropic glutamates
AMPA (1, 2, 3, 4) • Kainate (1, 2, 3, 4, 5)  • NMDA (1, 2A, 2B, 2C, 2D, 3A, 3B, L1A, L1B)
ATP-gated channels

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