GABRG2

Receptor gama-aminobuterne kiseline (GABA) A, gama 2
Identifikatori
Simboli	GABRG2; CAE2; ECA2; GEFSP3
Vanjski ID	OMIM: 137164 MGI: 95623 HomoloGene: 22443 IUPHAR: γがんま2 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

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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.^[1]

Interakcije

Pokazano je da GABRG2 formira interakcije sa GABARAP^[2]^[3]^[4] i dopaminskim receptorom D5.^[5]

Reference

↑ „Entrez Gene: GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2”.
↑ Nymann-Andersen, Jesper; Wang Hongbing, Chen Li, Kittler Josef T, Moss Stephen J, Olsen Richard W (March 2002). „Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors”. J. Neurochem. (England) 80 (5): 815–23. DOI:10.1046/j.0022-3042.2002.00762.x. ISSN 0022-3042. PMID 11948245.
↑ Coyle, Joseph E; Qamar Seema, Rajashankar Kanagalaghatta R, Nikolov Dimitar B (January 2002). „Structure of GABARAP in two conformations: implications for GABA(A) receptor localization and tubulin binding”. Neuron (United States) 33 (1): 63–74. DOI:10.1016/S0896-6273(01)00558-X. ISSN 0896-6273. PMID 11779480.
↑ Wang, H; Bedford F K, Brandon N J, Moss S J, Olsen R W (January 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.
↑ Liu, F; Wan Q, Pristupa Z B, Yu X M, Wang Y T, Niznik H B (January 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.

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.

Povezano

GABAA receptor

[entrez-1] „Entrez Gene: GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2”.

[pmid11948245-2] Nymann-Andersen, Jesper; Wang Hongbing, Chen Li, Kittler Josef T, Moss Stephen J, Olsen Richard W (March 2002). „Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors”. J. Neurochem. (England) 80 (5): 815–23. DOI:10.1046/j.0022-3042.2002.00762.x. ISSN 0022-3042. PMID 11948245.

[pmid11779480-3] Coyle, Joseph E; Qamar Seema, Rajashankar Kanagalaghatta R, Nikolov Dimitar B (January 2002). „Structure of GABARAP in two conformations: implications for GABA(A) receptor localization and tubulin binding”. Neuron (United States) 33 (1): 63–74. DOI:10.1016/S0896-6273(01)00558-X. ISSN 0896-6273. PMID 11779480.

[pmid9892355-4] Wang, H; Bedford F K, Brandon N J, Moss S J, Olsen R W (January 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.

[pmid10659839-5] Liu, F; Wan Q, Pristupa Z B, Yu X M, Wang Y T, Niznik H B (January 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.

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