GABRA2

Gamma-aminobutyric acid (GABA) A receptor, alpha 2
Identifiers
Symbols	GABRA2;
External IDs	OMIM: 137140 MGI: 95614 HomoloGene: 20217 IUPHAR: α2 GeneCards: GABRA2 Gene
Gene Ontology Molecular function • receptor activity • GABA-A receptor activity • ion channel activity • extracellular ligand-gated ion channel activity • chloride channel activity • benzodiazepine receptor activity Cellular component • plasma membrane • integral to membrane • cell junction • integral to synaptic vesicle membrane • chloride channel complex • synapse • postsynaptic membrane Biological process • regulation of neurotransmitter levels • neurotransmitter transport • gamma-aminobutyric acid signaling pathway • synaptic transmission • ion transmembrane transport • transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2555	14395
Ensembl	ENSG00000151834	ENSMUSG00000000560
UniProt	P47869	Q544G1
RefSeq (mRNA)	NM_000807.2	NM_008066.3
RefSeq (protein)	NP_000798.2	NP_032092.1
Location (UCSC)	Chr 4: 46.25 – 46.48 Mb	Chr 5: 71.35 – 71.49 Mb
PubMed search	[1]	[2]

Gamma-aminobutyric acid receptor subunit alpha-2 is a protein that in humans is encoded by the GABRA2 gene.

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified.

See also

• GABAA receptor

Further reading

• Matthews AG, Hoffman EK, Zezza N, et al. (2007). "The role of the GABRA2 polymorphism in multiplex alcohol dependence families with minimal comorbidity: within-family association and linkage analyses.". Journal of studies on alcohol and drugs 68 (5): 625–33. PMID 17690794. 
• Drgon T, D'Addario C, Uhl GR (2007). "Linkage disequilibrium, haplotype and association studies of a chromosome 4 GABA receptor gene cluster: candidate gene variants for addictions.". Am. J. Med. Genet. B Neuropsychiatr. Genet. 141 (8): 854–60. doi:10.1002/ajmg.b.30349. PMID 16894595. 
• Agrawal A, Edenberg HJ, Foroud T, et al. (2007). "Association of GABRA2 with drug dependence in the collaborative study of the genetics of alcoholism sample.". Behav. Genet. 36 (5): 640–50. doi:10.1007/s10519-006-9069-4. PMID 16622805. 
• Dick DM, Bierut L, Hinrichs A, et al. (2006). "The role of GABRA2 in risk for conduct disorder and alcohol and drug dependence across developmental stages.". Behav. Genet. 36 (4): 577–90. doi:10.1007/s10519-005-9041-8. PMID 16557364. 
• Tian H, Chen HJ, Cross TH, Edenberg HJ (2005). "Alternative splicing and promoter use in the human GABRA2 gene.". Brain Res. Mol. Brain Res. 137 (1–2): 174–83. doi:10.1016/j.molbrainres.2005.03.001. PMID 15950776. 
• Chou KC (2004). "Modelling extracellular domains of GABA-A receptors: subtypes 1, 2, 3, and 5". Biochem. Biophys. Res. Commun. 316 (3): 636–42. doi:10.1016/j.bbrc.2004.02.098. PMID 15033447. 
• Edenberg HJ, Dick DM, Xuei X, et al. (2004). "Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations". Am. J. Hum. Genet. 74 (4): 705–14. doi:10.1086/383283. PMC 1181946. PMID 15024690. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1181946. 
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=22306. 
• Russek SJ (1999). "Evolution of GABA(A) receptor diversity in the human genome". Gene 227 (2): 213–22. doi:10.1016/S0378-1119(98)00594-0. PMID 10023064. 
• Hadingham KL, Wingrove P, Le Bourdelles B, et al. (1993). "Cloning of cDNA sequences encoding human alpha 2 and alpha 3 gamma-aminobutyric acidA receptor subunits and characterization of the benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-, alpha 3-, and alpha 5-containing human gamma-aminobutyric acidA receptors". Mol. Pharmacol. 43 (6): 970–5. PMID 8391122. 
• Tögel M, Mossier B, Fuchs K, Sieghart W (1994). "gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties". J. Biol. Chem. 269 (17): 12993–8. PMID 8175718. 

External links

• MeSH GABRA2+protein,+human

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