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Gamma-aminobutyric acid receptor subunit gamma-2
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<h2 id="function">Function</h2> <p>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.<a class="footnote-ref" id="fnref:1" href="#fn:1"><sup>1</sup></a> </p> <h2 id="interactions">Interactions</h2> <p>GABRG2 has been shown to <a href="/facts/Protein-protein_interaction/etvm9Wmg">interact</a> with <a href="/facts/GABARAP/RDat9C7V">GABARAP</a><a class="footnote-ref" id="fnref:2" href="#fn:2"><sup>2</sup></a><a class="footnote-ref" id="fnref:3" href="#fn:3"><sup>3</sup></a><a class="footnote-ref" id="fnref:4" href="#fn:4"><sup>4</sup></a> and <a href="/facts/Dopamine_receptor_D5/VAAvdkLS">Dopamine receptor D5</a>.<a class="footnote-ref" id="fnref:5" href="#fn:5"><sup>5</sup></a> </p> <h2 id="see-also">See also</h2> <ul><li><a href="/facts/GABAA_receptor/6G4rAGb3">GABAA receptor</a></li></ul> <h2 id="further-reading">Further reading</h2> <ul><li>Moss SJ, Doherty CA, Huganir RL (July 1992). <a href="https://doi.org/10.1016%2FS0021-9258%2819%2949736-6">"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"</a>. <i>The Journal of Biological Chemistry</i>. 267 (20): 14470–14476. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0021-9258%2819%2949736-6">10.1016/S0021-9258(19)49736-6</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/1321150">1321150</a>.</li> <li>Wilcox AS, Warrington JA, Gardiner K, Berger R, Whiting P, Altherr MR, Wasmuth JJ, Patterson D, Sikela JM (July 1992). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC49396">"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"</a>. <i>Proceedings of the National Academy of Sciences of the United States of America</i>. 89 (13): 5857–5861. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/1992PNAS...89.5857W">1992PNAS...89.5857W</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1073%2Fpnas.89.13.5857">10.1073/pnas.89.13.5857</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC49396">49396</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/1321425">1321425</a>.</li> <li>Pritchett DB, Sontheimer H, Shivers BD, Ymer S, Kettenmann H, Schofield PR, Seeburg PH (April 1989). "Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology". <i>Nature</i>. 338 (6216): 582–585. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/1989Natur.338..582P">1989Natur.338..582P</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2F338582a0">10.1038/338582a0</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/2538761">2538761</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:4241689">4241689</a>.</li> <li>Russek SJ, Farb DH (October 1994). <a href="https://doi.org/10.1006%2Fgeno.1994.1539">"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"</a>. <i>Genomics</i>. 23 (3): 528–533. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1006%2Fgeno.1994.1539">10.1006/geno.1994.1539</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/7851879">7851879</a>.</li> <li>Kostrzewa M, Köhler A, Eppelt K, Hellam L, Fairweather ND, Levy ER, Monaco AP, Müller U (1997). "Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33". <i>European Journal of Human Genetics</i>. 4 (4): 199–204. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1159%2F000472199">10.1159/000472199</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8875185">8875185</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:33974711">33974711</a>.</li> <li>Wang H, Bedford FK, Brandon NJ, Moss SJ, Olsen RW (January 1999). "GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton". <i>Nature</i>. 397 (6714): 69–72. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2F16264">10.1038/16264</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9892355">9892355</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:204990449">204990449</a>.</li> <li>Bonnert TP, McKernan RM, Farrar S, le Bourdellès B, Heavens RP, Smith DW, Hewson L, Rigby MR, Sirinathsinghji DJ, Brown N, Wafford KA, Whiting PJ (August 1999). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC22306">"theta, a novel gamma-aminobutyric acid type A receptor subunit"</a>. <i>Proceedings of the National Academy of Sciences of the United States of America</i>. 96 (17): 9891–9896. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/1999PNAS...96.9891B">1999PNAS...96.9891B</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1073%2Fpnas.96.17.9891">10.1073/pnas.96.17.9891</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC22306">22306</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10449790">10449790</a>.</li> <li>Liu F, Wan Q, Pristupa ZB, Yu XM, Wang YT, Niznik HB (January 2000). "Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors". <i>Nature</i>. 403 (6767): 274–280. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/2000Natur.403..274L">2000Natur.403..274L</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2F35002014">10.1038/35002014</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10659839">10659839</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:4415918">4415918</a>.</li> <li>Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E (May 2001). "First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene". <i>Nature Genetics</i>. 28 (1): 46–48. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2F88254">10.1038/88254</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11326274">11326274</a>.</li> <li>Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, <a href="/facts/Grant_Robert_Sutherland/sywvNzqT">Sutherland GR</a>, Mulley JC, Scheffer IE, Berkovic SF (May 2001). "Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures". <i>Nature Genetics</i>. 28 (1): 49–52. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2F88259">10.1038/88259</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11326275">11326275</a>.</li> <li>Jiang S, Yu J, Wang J, Tan Z, Xue H, Feng G, He L, Yang H (2001). "Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2". <i>DNA Sequence</i>. 11 (5): 373–382. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.3109%2F10425170009033988">10.3109/10425170009033988</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11328646">11328646</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:43206605">43206605</a>.</li> <li>Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, Richards MC, Williams DA, Mulley JC, Berkovic SF, Scheffer IE, Petrou S (February 2002). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC384926">"Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus"</a>. <i>American Journal of Human Genetics</i>. 70 (2): 530–536. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1086%2F338710">10.1086/338710</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC384926">384926</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11748509">11748509</a>.</li> <li>Nymann-Andersen J, Wang H, Chen L, Kittler JT, Moss SJ, Olsen RW (March 2002). "Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors". <i>Journal of Neurochemistry</i>. 80 (5): 815–823. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1046%2Fj.0022-3042.2002.00762.x">10.1046/j.0022-3042.2002.00762.x</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11948245">11948245</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:38049055">38049055</a>.</li> <li>Kananura C, Haug K, Sander T, Runge U, Gu W, Hallmann K, Rebstock J, Heils A, Steinlein OK (July 2002). "A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions". <i>Archives of Neurology</i>. 59 (7): 1137–1141. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1001%2Farchneur.59.7.1137">10.1001/archneur.59.7.1137</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12117362">12117362</a>.</li> <li>Trudell J (September 2002). <a href="https://doi.org/10.1016%2FS0005-2736%2802%2900512-6">"Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling"</a>. <i>Biochimica et Biophysica Acta (BBA) - Biomembranes</i>. 1565 (1): 91–96. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0005-2736%2802%2900512-6">10.1016/S0005-2736(02)00512-6</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12225856">12225856</a>.</li> <li>Nymann-Andersen J, Wang H, Olsen RW (September 2002). "Biochemical identification of the binding domain in the GABA(A) receptor-associated protein (GABARAP) mediating dimer formation". <i>Neuropharmacology</i>. 43 (4): 476–481. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0028-3908%2802%2900165-X">10.1016/S0028-3908(02)00165-X</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12367594">12367594</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:38995093">38995093</a>.</li> <li>Sarto I, Wabnegger L, Dögl E, Sieghart W (September 2002). "Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly". <i>Neuropharmacology</i>. 43 (4): 482–491. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0028-3908%2802%2900160-0">10.1016/S0028-3908(02)00160-0</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12367595">12367595</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:140209788">140209788</a>.</li> <li>Lu J, Chen Y, Zhang Y, Pan H, Wu H, Xu K, Liu X, Jiang Y, Bao X, Ding K, Shen Y, Wu X (October 2002). "Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy". <i>Neuroscience Letters</i>. 332 (2): 75–78. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0304-3940%2802%2900805-4">10.1016/S0304-3940(02)00805-4</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12384214">12384214</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:54375872">54375872</a>.</li> <li>Wang J, Liu S, Haditsch U, Tu W, Cochrane K, Ahmadian G, Tran L, Paw J, Wang Y, Mansuy I, Salter MM, Lu YM (February 2003). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6741901">"Interaction of calcineurin and type-A GABA receptor gamma 2 subunits produces long-term depression at CA1 inhibitory synapses"</a>. <i>The Journal of Neuroscience</i>. 23 (3): 826–836. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1523%2FJNEUROSCI.23-03-00826.2003">10.1523/JNEUROSCI.23-03-00826.2003</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6741901">6741901</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12574411">12574411</a>.</li> <li>Phillips WD, Froehner SC (January 2002). <a href="https://doi.org/10.1016%2Fs0896-6273%2801%2900569-4">"GABARAP and GABA(A) receptor clustering"</a>. <i>Neuron</i>. 33 (1): 4–6. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2Fs0896-6273%2801%2900569-4">10.1016/s0896-6273(01)00569-4</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11779472">11779472</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:17051192">17051192</a>.</li></ul> <p><i>This article incorporates text from the <a href="/facts/United_States_National_Library_of_Medicine/Hzty0MCX">United States National Library of Medicine</a>, which is in the <a href="/facts/Public_domain/YWKMDKw4">public domain</a>.</i> </p> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>"Entrez Gene: GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2566" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2566</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>Nymann-Andersen J, Wang H, Chen L, Kittler JT, Moss SJ, Olsen RW (March 2002). "Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors". Journal of Neurochemistry. 80 (5): 815–823. doi:10.1046/j.0022-3042.2002.00762.x. PMID 11948245. S2CID 38049055. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>Coyle JE, Qamar S, Rajashankar KR, Nikolov DB (January 2002). "Structure of GABARAP in two conformations: implications for GABA(A) receptor localization and tubulin binding". Neuron. 33 (1): 63–74. doi:10.1016/S0896-6273(01)00558-X. PMID 11779480. S2CID 14487823. <a href="https://doi.org/10.1016%2FS0896-6273%2801%2900558-X" target="_blank">https://doi.org/10.1016%2FS0896-6273%2801%2900558-X</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>Wang H, Bedford FK, Brandon NJ, Moss SJ, Olsen RW (January 1999). "GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton". Nature. 397 (6714): 69–72. doi:10.1038/16264. PMID 9892355. S2CID 204990449. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> <li id="fn:5"><p>Liu F, Wan Q, Pristupa ZB, Yu XM, Wang YT, Niznik HB (January 2000). "Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors". Nature. 403 (6767): 274–280. Bibcode:2000Natur.403..274L. doi:10.1038/35002014. PMID 10659839. S2CID 4415918. <a href="/wiki/Bibcode_(identifier)" target="_blank">/wiki/Bibcode_(identifier)</a> <a href="#fnref:5" class="footnote-back-ref">↩</a></p></li> </ol>