GABRG2

Receptor gama-aminobuterne kiseline (GABA) A, gama 2
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
Entrez	2566
Ensembl	ENSG00000113327
UniProt	P18507
RefSeq (mRNA)	NM_000816.3
RefSeq (protein)	NP_000807.2
Lokacija (UCSC)	Chr 5:; 161.49 - 161.58 Mb
PubMed pretraga	[1]

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 уреди

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

Reference уреди

^ „Entrez Gene: GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2”.
^ Nymann-Andersen, Jesper; Wang Hongbing; et al. (2002). „Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors”. J. Neurochem. England. 80 (5): 815—23. ISSN 0022-3042. PMID 11948245. doi:10.1046/j.0022-3042.2002.00762.x.
^ Coyle, Joseph E; Qamar Seema; et al. (2002). „Structure of GABARAP in two conformations: implications for GABA(A) receptor localization and tubulin binding”. Neuron. United States. 33 (1): 63—74. ISSN 0896-6273. PMID 11779480. doi:10.1016/S0896-6273(01)00558-X.
^ Wang, H; Bedford F K; et al. (1999). „GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton”. Nature. ENGLAND. 397 (6714): 69—72. ISSN 0028-0836. PMID 9892355. doi:10.1038/16264.
^ Liu, F; Wan Q; et al. (2000). „Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors”. Nature. ENGLAND. 403 (6767): 274—80. ISSN 0028-0836. PMID 10659839. doi:10.1038/35002014.

Literatura уреди

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. PMC 49396  . PMID 1321425. doi:10.1073/pnas.89.13.5857.
Pritchett DB; Sontheimer H; Shivers BD; et al. (1989). „Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology.”. Nature. 338 (6216): 582—5. PMID 2538761. doi:10.1038/338582a0.
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. PMID 7851879. doi:10.1006/geno.1994.1539.
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. PMID 9892355. doi:10.1038/16264.
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. PMC 22306  . PMID 10449790. doi:10.1073/pnas.96.17.9891.
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. PMID 10659839. doi:10.1038/35002014.
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. PMID 11326274. doi:10.1038/88254.
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. PMID 11326275. doi:10.1038/88259.
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. doi:10.3109/10425170009033988.
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. PMC 384926  . PMID 11748509. doi:10.1086/338710.
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. doi:10.1046/j.0022-3042.2002.00762.x.
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. doi:10.1001/archneur.59.7.1137.
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. doi:10.1016/S0005-2736(02)00512-6.
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. doi:10.1016/S0028-3908(02)00165-X.
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. doi:10.1016/S0028-3908(02)00160-0.
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. doi:10.1016/S0304-3940(02)00805-4.
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. PMC 139241  . PMID 12477932. doi:10.1073/pnas.242603899.
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 уреди

GABAA receptor

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

[pmid11948245-2] Nymann-Andersen, Jesper; Wang Hongbing; et al. (2002). „Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors”. J. Neurochem. England. 80 (5): 815—23. ISSN 0022-3042. PMID 11948245. doi:10.1046/j.0022-3042.2002.00762.x.

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

[pmid9892355-4] Wang, H; Bedford F K; et al. (1999). „GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton”. Nature. ENGLAND. 397 (6714): 69—72. ISSN 0028-0836. PMID 9892355. doi:10.1038/16264.

[pmid10659839-5] Liu, F; Wan Q; et al. (2000). „Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors”. Nature. ENGLAND. 403 (6767): 274—80. ISSN 0028-0836. PMID 10659839. doi:10.1038/35002014.

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