GABRA2

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Gamma-aminobutyric acid (GABA) A receptor, alpha 2
Identifiers
Symbol(s) GABRA2;
External IDs OMIM: 137140 MGI: 95614 HomoloGene: 20217
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.[1]

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.[1]

Contents

[edit] See also

[edit] References

  1. ^ a b Entrez Gene: GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2.

[edit] 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. 

[edit] External links


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