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Gene Review

GABRG2  -  gamma-aminobutyric acid (GABA) A receptor,...

Homo sapiens

Synonyms: CAE2, ECA2, GABA(A) receptor subunit gamma-2, GEFSP3, Gamma-aminobutyric acid receptor subunit gamma-2
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Disease relevance of GABRG2

  • Although missense mutations in the GABA(A) receptor gamma2 subunits (GABRG2) gene have recently been detected in two families with typical absence seizures, no study has been carried out to clarify the relationship between atypical absence and GABA(A) receptors [1].
  • We now report a K289M mutation in the GABA(A) receptor gamma2-subunit gene (GABRG2) that segregates in a family with a phenotype closely related to GEFS+ (ref. 8), an autosomal dominant disorder associating febrile seizures and generalized epilepsy previously linked to mutations in sodium channel genes [2].
  • OBJECTIVE: To assess the role of GABRG2 in the genetic predisposition to idiopathic absence epilepsies [3].

High impact information on GABRG2

  • We found that the mutation in GABRG2 (encoding the gamma2-subunit) abolished in vitro sensitivity to diazepam, raising the possibility that endozepines do in fact exist and have a physiological role in preventing seizures [4].
  • Using panels of chromosome-specific natural deletion hybrids, we have further localized the gamma 1 gene (GABRG1) to 4p14-q21.1 and the gamma 2 gene (GABRG2) to 5q31.1-q33 [5].
  • RH mapping eliminated the candidate genes GABRA1 and GABRG2, which encode GABA-A receptor components, by showing that they are telomeric to the target region [6].
  • HeLa cell nuclear extract contained a protein that specifically binds to CAE1 and CAE2 and recognized by anti-ZNF143 antibody [7].
  • A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions [3].

Chemical compound and disease context of GABRG2


Biological context of GABRG2


Anatomical context of GABRG2

  • Gephyrin and GABRG2 immunoreactivities in the striatum and hippocampus of the ChAc-model mice were significantly higher than those in the wild types [13].

Associations of GABRG2 with chemical compounds


Other interactions of GABRG2

  • Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures [1].
  • CONCLUSIONS: The most frequently observed phenotypes matched those reported in families with mutations of the SCN1A, SCN1B, and GABRG2 genes [11].
  • A comparison of homozygous subjects carrying either the G/G or A/A genotype of the GABRG2 polymorphism consistently revealed an even stronger difference in the effect-size (ANOVA: F=11.13; df=1; P=0.002) [15].
  • 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 [15].
  • The environment and childhood asthma (ECA) study in Oslo: ECA-1 and ECA-2 [16].

Analytical, diagnostic and therapeutic context of GABRG2

  • PCR was used to identify the C/T and A/G polymorphisms of the GABRG2 gene on chromosome 5q33 [10].
  • Mutational screening of GABRG2 genes was performed by denaturing high performance liquid chromatography (DHPLC) and direct sequencing of DNA fragments showing a variant chromatogram [17].
  • This finding partly replicates a recent case-control study of GABRG2 in METH use disorder, and thus indicates that GABRG2 may be one of the susceptibility genes of METH use disorder [14].


  1. Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures. Ito, M., Ohmori, I., Nakahori, T., Ouchida, M., Ohtsuka, Y. Neurosci. Lett. (2005) [Pubmed]
  2. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Baulac, S., Huberfeld, G., Gourfinkel-An, I., Mitropoulou, G., Beranger, A., Prud'homme, J.F., Baulac, M., Brice, A., Bruzzone, R., LeGuern, E. Nat. Genet. (2001) [Pubmed]
  3. A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Kananura, C., Haug, K., Sander, T., Runge, U., Gu, W., Hallmann, K., Rebstock, J., Heils, A., Steinlein, O.K. Arch. Neurol. (2002) [Pubmed]
  4. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Wallace, R.H., Marini, C., Petrou, S., Harkin, L.A., Bowser, D.N., Panchal, R.G., Williams, D.A., Sutherland, G.R., Mulley, J.C., Scheffer, I.E., Berkovic, S.F. Nat. Genet. (2001) [Pubmed]
  5. 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. Wilcox, A.S., Warrington, J.A., Gardiner, K., Berger, R., Whiting, P., Altherr, M.R., Wasmuth, J.J., Patterson, D., Sikela, J.M. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  6. Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q. Ryan, S.G., Dixon, M.J., Nigro, M.A., Kelts, K.A., Markand, O.N., Terry, J.C., Shiang, R., Wasmuth, J.J., O'Connell, P. Am. J. Hum. Genet. (1992) [Pubmed]
  7. Transcriptional regulation of the mouse cytosolic chaperonin subunit gene Ccta/t-complex polypeptide 1 by selenocysteine tRNA gene transcription activating factor family zinc finger proteins. Kubota, H., Yokota, S., Yanagi, H., Yura, T. J. Biol. Chem. (2000) [Pubmed]
  8. A novel GABRG2 mutation associated with febrile seizures. Audenaert, D., Schwartz, E., Claeys, K.G., Claes, L., Deprez, L., Suls, A., Van Dyck, T., Lagae, L., Van Broeckhoven, C., Macdonald, R.L., De Jonghe, P. Neurology (2006) [Pubmed]
  9. Further evidence for clustering of human GABAA receptor subunit genes: localization of the alpha 6-subunit gene (GABRA6) to distal chromosome 5q by linkage analysis. Hicks, A.A., Bailey, M.E., Riley, B.P., Kamphuis, W., Siciliano, M.J., Johnson, K.J., Darlison, M.G. Genomics (1994) [Pubmed]
  10. Association analysis of gamma 2 subunit of gamma- aminobutyric acid type A receptor polymorphisms with febrile seizures. Chou, I.C., Peng, C.T., Huang, C.C., Tsai, J.J., Tsai, F.J., Tsai, C.H. Pediatr. Res. (2003) [Pubmed]
  11. Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. Bonanni, P., Malcarne, M., Moro, F., Veggiotti, P., Buti, D., Ferrari, A.R., Parrini, E., Mei, D., Volzone, A., Zara, F., Heron, S.E., Bordo, L., Marini, C., Guerrini, R. Epilepsia (2004) [Pubmed]
  12. Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy. Lu, J., Chen, Y., Zhang, Y., Pan, H., Wu, H., Xu, K., Liu, X., Jiang, Y., Bao, X., Ding, K., Shen, Y., Wu, X. Neurosci. Lett. (2002) [Pubmed]
  13. Chorein deficiency leads to upregulation of gephyrin and GABA(A) receptor. Kurano, Y., Nakamura, M., Ichiba, M., Matsuda, M., Mizuno, E., Kato, M., Izumo, S., Sano, A. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  14. Haplotype association between GABAA receptor gamma2 subunit gene (GABRG2) and methamphetamine use disorder. Nishiyama, T., Ikeda, M., Iwata, N., Suzuki, T., Kitajima, T., Yamanouchi, Y., Sekine, Y., Iyo, M., Harano, M., Komiyama, T., Yamada, M., Sora, I., Ujike, H., Inada, T., Furukawa, T., Ozaki, N. Pharmacogenomics J. (2005) [Pubmed]
  15. 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]
  16. The environment and childhood asthma (ECA) study in Oslo: ECA-1 and ECA-2. Lødrup Carlsen, K.C. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology. (2002) [Pubmed]
  17. No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. Madia, F., Gennaro, E., Cecconi, M., Buti, D., Capovilla, G., Dalla Bernardina, B., Elia, M., Ferrari, A., Fontana, E., Gaggero, R., Giannotta, M., Giordano, L., Granata, T., La Selva, L., Luisa Lispi, M., Santucci, M., Vanadia, F., Veggiotti, P., Vigliano, P., Viri, M., Dagna Bricarelli, F., Bianchi, A., Zara, F. Epilepsy Res. (2003) [Pubmed]
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