Biology:Gamma-aminobutyric acid receptor subunit gamma-2

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

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

Function

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.

Interactions

GABRG2 has been shown to interact with GABARAP and Dopamine receptor D5.

See also

• GABAA receptor

Further reading

• "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". The Journal of Biological Chemistry 267 (20): 14470–14476. July 1992. doi:10.1016/S0021-9258(19)49736-6. PMID 1321150. 
• "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". Proceedings of the National Academy of Sciences of the United States of America 89 (13): 5857–5861. July 1992. doi:10.1073/pnas.89.13.5857. PMID 1321425. Bibcode: 1992PNAS...89.5857W. 
• "Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology". Nature 338 (6216): 582–585. April 1989. doi:10.1038/338582a0. PMID 2538761. Bibcode: 1989Natur.338..582P. 
• "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): 528–533. October 1994. doi:10.1006/geno.1994.1539. PMID 7851879. 
• "Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33". European Journal of Human Genetics 4 (4): 199–204. 1997. doi:10.1159/000472199. PMID 8875185. 
• "GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton". Nature 397 (6714): 69–72. January 1999. doi:10.1038/16264. PMID 9892355. 
• "theta, a novel gamma-aminobutyric acid type A receptor subunit". Proceedings of the National Academy of Sciences of the United States of America 96 (17): 9891–9896. August 1999. doi:10.1073/pnas.96.17.9891. PMID 10449790. Bibcode: 1999PNAS...96.9891B. 
• "Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors". Nature 403 (6767): 274–280. January 2000. doi:10.1038/35002014. PMID 10659839. Bibcode: 2000Natur.403..274L. 
• "First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene". Nature Genetics 28 (1): 46–48. May 2001. doi:10.1038/88254. PMID 11326274. 
• "Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures". Nature Genetics 28 (1): 49–52. May 2001. doi:10.1038/88259. PMID 11326275. 
• "Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2". DNA Sequence 11 (5): 373–382. 2001. doi:10.3109/10425170009033988. PMID 11328646. 
• "Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus". American Journal of Human Genetics 70 (2): 530–536. February 2002. doi:10.1086/338710. PMID 11748509. 
• "Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors". Journal of Neurochemistry 80 (5): 815–823. March 2002. doi:10.1046/j.0022-3042.2002.00762.x. PMID 11948245. 
• "A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions". Archives of Neurology 59 (7): 1137–1141. July 2002. doi:10.1001/archneur.59.7.1137. PMID 12117362. 
• "Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling". Biochimica et Biophysica Acta (BBA) - Biomembranes 1565 (1): 91–96. September 2002. doi:10.1016/S0005-2736(02)00512-6. PMID 12225856. 
• "Biochemical identification of the binding domain in the GABA(A) receptor-associated protein (GABARAP) mediating dimer formation". Neuropharmacology 43 (4): 476–481. September 2002. doi:10.1016/S0028-3908(02)00165-X. PMID 12367594. 
• "Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly". Neuropharmacology 43 (4): 482–491. September 2002. doi:10.1016/S0028-3908(02)00160-0. PMID 12367595. 
• "Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy". Neuroscience Letters 332 (2): 75–78. October 2002. doi:10.1016/S0304-3940(02)00805-4. PMID 12384214. 
• "Interaction of calcineurin and type-A GABA receptor gamma 2 subunits produces long-term depression at CA1 inhibitory synapses". The Journal of Neuroscience 23 (3): 826–836. February 2003. doi:10.1523/JNEUROSCI.23-03-00826.2003. PMID 12574411. 
• "GABARAP and GABA(A) receptor clustering". Neuron 33 (1): 4–6. January 2002. doi:10.1016/s0896-6273(01)00569-4. PMID 11779472. 

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