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Gene Review

GABRB2  -  gamma-aminobutyric acid (GABA) A receptor,...

Homo sapiens

Synonyms: GABA(A) receptor subunit beta-2, Gamma-aminobutyric acid receptor subunit beta-2
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High impact information on GABRB2

  • Association of the GABRB2 1412T allele with alcohol dependence was detected in both populations (Finns, P = .01; Southwestern Native Americans, P = .008), and the GABRA6 1519T allele was associated in both Finns (P = .01) and Southwestern Native Americans (P = .03) [1].
  • The geno-PDT found significant genotypic association for HCV8262334 (in GABRA2), RS1912960 and RS2280073 (in GABRA4), and RS2617503 and RS12187676 (in GABRB2) [2].
  • Supportive evidence for association was also obtained for a previously reported GABRB2 risk haplotype [3].
  • Five SNPs in GABRB2, namely B2I7G1584T, rs1816071, rs194072, rs252944 and rs187269, were found to be significantly associated, and their haplotypes in linkage disequilibrium, with schizophrenia [4].
  • The present association study was designed to test whether EEG and ERPs are modulated by genetic variations of the human GABAA beta2 (GABRB2) and gamma2 (GABRG2) genes on chromosome 5q33 [5].

Biological context of GABRB2

  • The genotypes of three nucleotide substitution polymorphisms of the GABRA6, GABRB2, and GABRG2 genes were assessed in 349 German alcohol-dependent subjects and in 182 ethnically matched controls [6].
  • Recently, Lo et al. reported strong positive association between schizophrenia and GABRB2, demonstrated by single markers and haplotypes of five markers in introns of GABRB2, rs6556547, rs1816071, rs194072, rs252944, and rs187269 [7].
  • In this study, six SNPs in GABRB2 were genotyped for a case-control association study with the cycloid psychosis subtype of SCZ in the German population using two methods for SNP genotyping [8].
  • Mapping of the beta 2 subunit gene of the GABAA receptor (GABRB2) to human chromosome 5q34 using fluorescence in situ hybridization [9].

Other interactions of GABRB2

  • The order of the GABR subunit genes with respect to known anonymous gene loci is cen-D5S380 - D5S403 - D5S529 - GABRB2 - GABRA1/A6 - GABRG2-D 5S422-tel [10].
  • The genotypes of two nucleotide substitution polymorphisms of the GABRB2 and GABRG2 genes were assessed in 95 psychiatrically healthy subjects of German descent [5].


  1. Haplotype-based localization of an alcohol dependence gene to the 5q34 {gamma}-aminobutyric acid type A gene cluster. Radel, M., Vallejo, R.L., Iwata, N., Aragon, R., Long, J.C., Virkkunen, M., Goldman, D. Arch. Gen. Psychiatry (2005) [Pubmed]
  2. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. Ma, D.Q., Whitehead, P.L., Menold, M.M., Martin, E.R., Ashley-Koch, A.E., Mei, H., Ritchie, M.D., Delong, G.R., Abramson, R.K., Wright, H.H., Cuccaro, M.L., Hussman, J.P., Gilbert, J.R., Pericak-Vance, M.A. Am. J. Hum. Genet. (2005) [Pubmed]
  3. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. Petryshen, T.L., Middleton, F.A., Tahl, A.R., Rockwell, G.N., Purcell, S., Aldinger, K.A., Kirby, A., Morley, C.P., McGann, L., Gentile, K.L., Waggoner, S.G., Medeiros, H.M., Carvalho, C., Macedo, A., Albus, M., Maier, W., Trixler, M., Eichhammer, P., Schwab, S.G., Wildenauer, D.B., Azevedo, M.H., Pato, M.T., Pato, C.N., Daly, M.J., Sklar, P. Mol. Psychiatry (2005) [Pubmed]
  4. Association of SNPs and haplotypes in GABAA receptor beta2 gene with schizophrenia. Lo, W.S., Lau, C.F., Xuan, Z., Chan, C.F., Feng, G.Y., He, L., Cao, Z.C., Liu, H., Luan, Q.M., Xue, H. Mol. Psychiatry (2004) [Pubmed]
  5. Association analysis of GABAAbeta2 and gamma2 gene polymorphisms with event-related prefrontal activity in man. Winterer, G., Smolka, M., Samochowiec, J., Mulert, C., Ziller, M., Mahlberg, R., Wuebben, Y., Gallinat, J., Rommelspacher, H., Herrman, W.M., Sander, T. Hum. Genet. (2000) [Pubmed]
  6. Association analysis of sequence variants of GABA(A) alpha6, beta2, and gamma2 gene cluster and alcohol dependence. Sander, T., Ball, D., Murray, R., Patel, J., Samochowiec, J., Winterer, G., Rommelspacher, H., Schmidt, L.G., Loh, E.W. Alcohol. Clin. Exp. Res. (1999) [Pubmed]
  7. Positive association of the human GABA-A-receptor beta 2 subunit gene haplotype with schizophrenia in the Chinese Han population. Liu, J., Shi, Y., Tang, W., Guo, T., Li, D., Yang, Y., Zhao, X., Wang, H., Li, X., Feng, G., Gu, N., Zhu, S., Liu, H., Guo, Y., Shi, J., Sang, H., Yan, L., He, L. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
  8. Analysis of GABRB2 association with schizophrenia in German population with DNA sequencing and one-label extension method for SNP genotyping. Yu, Z., Chen, J., Shi, H., Stoeber, G., Tsang, S.Y., Xue, H. Clin. Biochem. (2006) [Pubmed]
  9. Mapping of the beta 2 subunit gene of the GABAA receptor (GABRB2) to human chromosome 5q34 using fluorescence in situ hybridization. Russek, S.J., Farb, D.H. Cell. Mol. Biol. Res. (1995) [Pubmed]
  10. Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33. Kostrzewa, M., Köhler, A., Eppelt, K., Hellam, L., Fairweather, N.D., Levy, E.R., Monaco, A.P., Müller, U. Eur. J. Hum. Genet. (1996) [Pubmed]
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