GABRG2

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Receptor gama-aminobuterne kiseline (GABA) A, gama 2
Identifikatori
Simboli	GABRG2; CAE2; ECA2; GEFSP3
Vanjski ID	OMIM: 137164 MGI: 95623 HomoloGene: 22443 IUPHAR: γ2 GeneCards: GABRG2 Gene
Ontologija gena Molekularna funkcija • aktivnost GABA-A receptora • aktivnost jonskog kanala • aktivnost ekstracelularnog ligandom kontrolisanog jonskog kanala • aktivnost hloridnog kanala • proteinsko vezivanja • aktivnost benzodiazepinskog receptora Celularna komponenta • ćelijska membrana • integralno sa ćelijskom membranom • ćelijski spoj • kompleks hloridnog kanala • sinapsa • postsinaptička membrana Biološki proces • transport • hloridni transport • signalni put gama-aminobuterne kiseline • sinaptička transmisija • jonski transmembranski transport • transmembranski transport
Pregled RNK izražavanja
podaci
Ortolozi
Vrsta	Čovek	Miš
Entrez	2566	14406
Ensembl	ENSG00000113327	ENSMUSG00000020436
UniProt	P18507	P22723
RefSeq (mRNA)	NM_000816.3	NM_008073.2
RefSeq (protein)	NP_000807.2	NP_032099.1
Lokacija (UCSC)	Chr 5: 161.49 - 161.58 Mb	Chr 11: 41.72 - 41.81 Mb
PubMed pretraga	[1]	[2]

Receptor gama-aminobuterne kiseline, podjedinica gama-2 je protein koji je kod ljudi kodiran GABRG2 genom.

Gama-aminobuterna kiselina (GABA) je inhibitorni neurotransmiter u mozgu, koji posreduje neuronsku inhibiciju vezivanjem za GABA receptore. Tip A GABA receptori su pentamerni hloridni kanali koji mogu da budu formirani od više genetičkih varijanti GABA(A) podjedinica. Ovaj gen kodira gama 2 podjedinicu GABA(A) receptora. Mutacije ovog gena su vezane za epilepsiju i febrilne konvulzije. Alternativno splajsovanje ovog gena proizvodi transkriptne varijante koje kodiraju različite izoforme.

Interakcije

Pokazano je da GABRG2 formira interakcije sa GABARAP i dopaminskim receptorom D5.

Literatura

• 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. PMC 49396. 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. PMC 22306. 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. PMC 384926. 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. PMC 139241. 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. 

Vidi još

• GABAA receptor