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Gamma-aminobutyric acid (GABA) A receptor, gamma 2
Identifiers
Symbols GABRG2; CAE2; ECA2; GEFSP3
External IDs OMIM137164 MGI95623 HomoloGene22443 GeneCards: GABRG2 Gene
RNA expression pattern
PBB GE GABRG2 206849 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2566 14406
Ensembl ENSG00000113327 ENSMUSG00000020436
UniProt P18507 Q5SUZ1
RefSeq (mRNA) NM_000816 NM_008073
RefSeq (protein) NP_000807 NP_032099
Location (UCSC) Chr 5:
161.43 - 161.52 Mb
Chr 11:
41.75 - 41.84 Mb
PubMed search [1] [2]

Gamma-aminobutyric acid receptor subunit gamma-2 is a protein that in humans is encoded by the GABRG2 gene.

Gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the brain, mediates neuronal inhibition by binding to GABA receptors. The type A GABA receptors are pentameric chloride channels assembled from among many genetic variants of GABA(A) subunits. This gene encodes the gamma 2 subunit of GABA(A) receptor. Mutations in this gene have been associated with epilepsy and febrile seizures. Alternative splicing of this gene results in transcript variants encoding different isoforms.[1]

Contents

Interactions

GABRG2 has been shown to interact with GABARAP[2][3][4] and Dopamine receptor D5.[5]

See also

References

  1. ^ "Entrez Gene: GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2566.  
  2. ^ Nymann-Andersen, Jesper; Wang Hongbing, Chen Li, Kittler Josef T, Moss Stephen J, Olsen Richard W (Mar. 2002). "Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors". J. Neurochem. (England) 80 (5): 815–23. ISSN 0022-3042. PMID 11948245.  
  3. ^ Coyle, Joseph E; Qamar Seema, Rajashankar Kanagalaghatta R, Nikolov Dimitar B (Jan. 2002). "Structure of GABARAP in two conformations: implications for GABA(A) receptor localization and tubulin binding". Neuron (United States) 33 (1): 63–74. ISSN 0896-6273. PMID 11779472.  
  4. ^ Wang, H; Bedford F K, Brandon N J, Moss S J, Olsen R W (Jan. 1999). "GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton". Nature (ENGLAND) 397 (6714): 69–72. doi:10.1038/16264. ISSN 0028-0836. PMID 9892355.  
  5. ^ Liu, F; Wan Q, Pristupa Z B, Yu X M, Wang Y T, Niznik H B (Jan. 2000). "Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors". Nature (ENGLAND) 403 (6767): 274–80. doi:10.1038/35002014. ISSN 0028-0836. PMID 10659839.  

Further reading

  • Moss SJ, Doherty CA, Huganir RL (1992). "Identification of the cAMP-dependent protein kinase and protein kinase C phosphorylation sites within the major intracellular domains of the beta 1, gamma 2S, and gamma 2L subunits of the gamma-aminobutyric acid type A receptor.". J. Biol. Chem. 267 (20): 14470–6. PMID 1321150.  
  • Wilcox AS, Warrington JA, Gardiner K, et al. (1992). "Human chromosomal localization of genes encoding the gamma 1 and gamma 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome.". Proc. Natl. Acad. Sci. U.S.A. 89 (13): 5857–61. doi:10.1073/pnas.89.13.5857. PMID 1321425.  
  • Pritchett DB, Sontheimer H, Shivers BD, et al. (1989). "Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology.". Nature 338 (6216): 582–5. doi:10.1038/338582a0. PMID 2538761.  
  • 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.  
  • Kostrzewa M, Köhler A, Eppelt K, et al. (1997). "Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33.". Eur. J. Hum. Genet. 4 (4): 199–204. PMID 8875185.  
  • Wang H, Bedford FK, Brandon NJ, et al. (1999). "GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton.". Nature 397 (6714): 69–72. doi:10.1038/16264. PMID 9892355.  
  • Bonnert TP, McKernan RM, Farrar S, et al. (1999). "theta, a novel gamma-aminobutyric acid type A receptor subunit.". Proc. Natl. Acad. Sci. U.S.A. 96 (17): 9891–6. doi:10.1073/pnas.96.17.9891. PMID 10449790.  
  • Liu F, Wan Q, Pristupa ZB, et al. (2000). "Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors.". Nature 403 (6767): 274–80. doi:10.1038/35002014. PMID 10659839.  
  • Baulac S, Huberfeld G, Gourfinkel-An I, et al. (2001). "First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.". Nat. Genet. 28 (1): 46–8. doi:10.1038/88254. PMID 11326274.  
  • Wallace RH, Marini C, Petrou S, et al. (2001). "Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.". Nat. Genet. 28 (1): 49–52. doi:10.1038/88259. PMID 11326275.  
  • Jiang S, Yu J, Wang J, et al. (2001). "Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2.". DNA Seq. 11 (5): 373–82. doi:10.3109/10425170009033988. PMID 11328646.  
  • Harkin LA, Bowser DN, Dibbens LM, et al. (2002). "Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.". Am. J. Hum. Genet. 70 (2): 530–6. doi:10.1086/338710. PMID 11748509.  
  • Nymann-Andersen J, Wang H, Chen L, et al. (2002). "Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors.". J. Neurochem. 80 (5): 815–23. doi:10.1046/j.0022-3042.2002.00762.x. PMID 11948245.  
  • Kananura C, Haug K, Sander T, et al. (2002). "A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.". Arch. Neurol. 59 (7): 1137–41. doi:10.1001/archneur.59.7.1137. PMID 12117362.  
  • 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.  
  • Nymann-Andersen J, Wang H, Olsen RW (2002). "Biochemical identification of the binding domain in the GABA(A) receptor-associated protein (GABARAP) mediating dimer formation.". Neuropharmacology 43 (4): 476–81. doi:10.1016/S0028-3908(02)00165-X. PMID 12367594.  
  • 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.  
  • Lu J, Chen Y, Zhang Y, et al. (2002). "Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy.". Neurosci. Lett. 332 (2): 75–8. doi:10.1016/S0304-3940(02)00805-4. PMID 12384214.  
  • 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.  
  • Wang J, Liu S, Haditsch U, et al. (2003). "Interaction of calcineurin and type-A GABA receptor gamma 2 subunits produces long-term depression at CA1 inhibitory synapses.". J. Neurosci. 23 (3): 826–36. PMID 12574411.  

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

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