GABRG2

Gamma-aminobutyric acid (GABA) A receptor, gamma 2, also known as GABRG2, is a human gene.

PBB_Summary
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summary_text = 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.cite web | title = Entrez Gene: GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2566| accessdate = ]

ee also

* GABAA receptor

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Moss SJ, Doherty CA, Huganir RL |title=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. |journal=J. Biol. Chem. |volume=267 |issue= 20 |pages= 14470–6 |year= 1992 |pmid= 1321150 |doi=
*cite journal | author=Wilcox AS, Warrington JA, Gardiner K, "et al." |title=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. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 13 |pages= 5857–61 |year= 1992 |pmid= 1321425 |doi=
*cite journal | author=Pritchett DB, Sontheimer H, Shivers BD, "et al." |title=Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology. |journal=Nature |volume=338 |issue= 6216 |pages= 582–5 |year= 1989 |pmid= 2538761 |doi= 10.1038/338582a0
*cite journal | author=Russek SJ, Farb DH |title=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. |journal=Genomics |volume=23 |issue= 3 |pages= 528–33 |year= 1995 |pmid= 7851879 |doi= 10.1006/geno.1994.1539
*cite journal | author=Kostrzewa M, Köhler A, Eppelt K, "et al." |title=Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33. |journal=Eur. J. Hum. Genet. |volume=4 |issue= 4 |pages= 199–204 |year= 1997 |pmid= 8875185 |doi=
*cite journal | author=Wang H, Bedford FK, Brandon NJ, "et al." |title=GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton. |journal=Nature |volume=397 |issue= 6714 |pages= 69–72 |year= 1999 |pmid= 9892355 |doi= 10.1038/16264
*cite journal | author=Bonnert TP, McKernan RM, Farrar S, "et al." |title=theta, a novel gamma-aminobutyric acid type A receptor subunit. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 17 |pages= 9891–6 |year= 1999 |pmid= 10449790 |doi=
*cite journal | author=Liu F, Wan Q, Pristupa ZB, "et al." |title=Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors. |journal=Nature |volume=403 |issue= 6767 |pages= 274–80 |year= 2000 |pmid= 10659839 |doi= 10.1038/35002014
*cite journal | author=Baulac S, Huberfeld G, Gourfinkel-An I, "et al." |title=First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. |journal=Nat. Genet. |volume=28 |issue= 1 |pages= 46–8 |year= 2001 |pmid= 11326274 |doi= 10.1038/88254
*cite journal | author=Wallace RH, Marini C, Petrou S, "et al." |title=Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. |journal=Nat. Genet. |volume=28 |issue= 1 |pages= 49–52 |year= 2001 |pmid= 11326275 |doi= 10.1038/88259
*cite journal | author=Jiang S, Yu J, Wang J, "et al." |title=Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2. |journal=DNA Seq. |volume=11 |issue= 5 |pages= 373–82 |year= 2001 |pmid= 11328646 |doi=
*cite journal | author=Harkin LA, Bowser DN, Dibbens LM, "et al." |title=Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. |journal=Am. J. Hum. Genet. |volume=70 |issue= 2 |pages= 530–6 |year= 2002 |pmid= 11748509 |doi=
*cite journal | author=Nymann-Andersen J, Wang H, Chen L, "et al." |title=Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors. |journal=J. Neurochem. |volume=80 |issue= 5 |pages= 815–23 |year= 2002 |pmid= 11948245 |doi=
*cite journal | author=Kananura C, Haug K, Sander T, "et al." |title=A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. |journal=Arch. Neurol. |volume=59 |issue= 7 |pages= 1137–41 |year= 2002 |pmid= 12117362 |doi=
*cite journal | author=Trudell J |title=Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling. |journal=Biochim. Biophys. Acta |volume=1565 |issue= 1 |pages= 91–6 |year= 2002 |pmid= 12225856 |doi=
*cite journal | author=Nymann-Andersen J, Wang H, Olsen RW |title=Biochemical identification of the binding domain in the GABA(A) receptor-associated protein (GABARAP) mediating dimer formation. |journal=Neuropharmacology |volume=43 |issue= 4 |pages= 476–81 |year= 2002 |pmid= 12367594 |doi=
*cite journal | author=Sarto I, Wabnegger L, Dögl E, Sieghart W |title=Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly. |journal=Neuropharmacology |volume=43 |issue= 4 |pages= 482–91 |year= 2002 |pmid= 12367595 |doi=
*cite journal | author=Lu J, Chen Y, Zhang Y, "et al." |title=Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy. |journal=Neurosci. Lett. |volume=332 |issue= 2 |pages= 75–8 |year= 2002 |pmid= 12384214 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Wang J, Liu S, Haditsch U, "et al." |title=Interaction of calcineurin and type-A GABA receptor gamma 2 subunits produces long-term depression at CA1 inhibitory synapses. |journal=J. Neurosci. |volume=23 |issue= 3 |pages= 826–36 |year= 2003 |pmid= 12574411 |doi=

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