GABRG2
| Gamma-aminobutyric acid (GABA) A receptor, gamma 2 | |||||||||||
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| Symbols | GABRG2 ; CAE2; ECA2; GEFSP3 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 22443 | ||||||||||
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| Species | Human | Mouse | |||||||||
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Gamma-aminobutyric acid (GABA) A receptor, gamma 2, also known as GABRG2, is a human 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]
See also
References
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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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.
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