GABRG2

Gamma-aminobutyric acid (GABA) A receptor, gamma 2
Identifiers
Symbols	GABRG2 ; CAE2; ECA2; GEFSP3
External IDs	OMIM: 137164 MGI: 95623 HomoloGene: 22443 IUPHAR: 414 ChEMBL: 1788 GeneCards: GABRG2 Gene
Gene ontology Molecular function • GABA-A receptor activity • inhibitory extracellular ligand-gated ion channel activity • chloride channel activity • protein binding • benzodiazepine receptor activity Cellular component • plasma membrane • integral component of plasma membrane • cell junction • axon • dendrite membrane • chloride channel complex • neuron projection • synapse • postsynaptic membrane • GABA-A receptor complex Biological process • transport • gamma-aminobutyric acid signaling pathway • synaptic transmission • post-embryonic development • adult behavior • ion transmembrane transport • regulation of membrane potential • response to drug • neurological system process • synaptic transmission, GABAergic • transmembrane transport • cellular response to histamine • chloride transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2566	14406
Ensembl	ENSG00000113327	ENSMUSG00000020436
UniProt	P18507	P22723
RefSeq (mRNA)	NM_000816	NM_008073
RefSeq (protein)	NP_000807	NP_032099
Location (UCSC)	Chr 5: 162.07 – 162.16 Mb	Chr 11: 41.91 – 42 Mb
PubMed search

Gamma-aminobutyric acid receptor subunit gamma-2 is a protein that in humans is encoded by the GABRG2 gene.

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.^[1]

Interactions

GABRG2 has been shown to interact with GABARAP^[2][3][4] and Dopamine receptor D5.^[5]

See also

• GABAA receptor

References

1. "Entrez Gene: GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2".
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.
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.
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.
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.

Further reading

• 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.
• Phillips, W. D.; Froehner, S. C. (2002). "GABARAP and GABA(A) receptor clustering". Neuron 33 (1): 4–6. PMID 11779472.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.