GABRA2

Gamma-aminobutyric acid (GABA) A receptor, alpha 2
Identifiers
Symbol(s)	GABRA2;
External IDs	OMIM: 137140 MGI: 95614 Homologene: 20217
Gene ontology Molecular Function: • GABA-A receptor activity • ion channel activity • extracellular ligand-gated ion channel activity • chloride channel activity • benzodiazepine receptor activity • chloride ion binding Cellular Component: • integral to plasma membrane • postsynaptic membrane Biological Process: • regulation of neurotransmitter levels • ion transport • chloride transport • gamma-aminobutyric acid signaling pathway
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	2555	14395
Ensembl	ENSG00000151834	ENSMUSG00000000560
Uniprot	P47869	Q544G1
Refseq	NM_000807 (mRNA) NP_000798 (protein)	XM_001002037 (mRNA) XP_001002037 (protein)
Location	Chr 4: 45.95 - 46.09 Mb	Chr 5: 71.24 - 71.37 Mb
Pubmed search	[1]	[2]

Gamma-aminobutyric acid (GABA) A receptor, alpha 2, also known as GABRA2, is a human 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. PMID 15024690.
• 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. PMID 12477932.
• 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. PMID 10449790.
• Russek SJ (1999). "Evolution of GABA(A) receptor diversity in the human genome.". Gene 227 (2): 213-22. 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

Template:Membrane-protein-stub This article incorporates text from the United States National Library of Medicine, which is in the public domain.