GABRA6

Summary

Gene Symbol: GABRA6
Description: gamma-aminobutyric acid type A receptor alpha6 subunit
Alias: gamma-aminobutyric acid receptor subunit alpha-6, GABA subunit A receptor alpha 6, GABA(A) receptor subunit alpha-6, GABA(A) receptor, alpha 6, gamma-aminobutyric acid (GABA) A receptor, alpha 6
Species: human
Products:     GABRA6

Top Publications

  1. Pham X, Sun C, Chen X, van den Oord E, Neale M, Kendler K, et al. Association study between GABA receptor genes and anxiety spectrum disorders. Depress Anxiety. 2009;26:998-1003 pubmed publisher
    ..We analyzed data from 26 single nucleotide polymorphisms (SNPs) from four GABA receptor genes: GABRA2, GABRA3, GABRA6, and GABRG2...
  2. Kobayashi Y, Akiyoshi J, Kanehisa M, Ichioka S, Tanaka Y, Tsuru J, et al. Lack of polymorphism in genes encoding mGluR 7, mGluR 8, GABA(A) receptor alfa-6 subunit and nociceptin/orphanin FQ receptor and panic disorder. Psychiatr Genet. 2007;17:9 pubmed
  3. Lee Y, Wang H, Chiu H, Huang S, Liao S, Chen M, et al. GABRA6 genetic polymorphism is associated with the risk of functional heartburn in Chinese. J Gastroenterol Hepatol. 2007;22:227-33 pubmed
    Polymorphisms of GABA(A)alpha6 (GABRA6)-1521 and IL-1beta-511 have been linked with susceptibility to stress and gastric acid secretion...
  4. Loh E, Tang N, Lee D, Liu S, Stadlin A. Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:439-43 pubmed
    ..Single nucleotide polymorphisms (SNPs) of the GABAA receptor subunits GABRB2, GABRA6, GABRA1, and GABRG2 were examined in 178 male Han Chinese heroin-dependent and 170 male control subjects...
  5. Han D, Bolo N, Daniels M, Lyoo I, Min K, Kim C, et al. Craving for alcohol and food during treatment for alcohol dependence: modulation by T allele of 1519T>C GABAAalpha6. Alcohol Clin Exp Res. 2008;32:1593-9 pubmed publisher
    ..The T allele of the 1519T>C GABA(A)alpha6 gene may be one of the modulating factors associated with changes in craving for alcohol and food during treatment of patients with alcohol dependence. ..
  6. Hirose S. Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy. Prog Brain Res. 2014;213:55-85 pubmed publisher
    ..or genetic variations of the genes encoding the α1, α6, β2, β3, γ2, or δ subunits (GABRA1, GABRA6, GABRB2, GABRB3, GABRG2, and GABRD, respectively) have been associated with human epilepsy, both with and without ..
  7. Feng W, Mei S, Han J, Zhu L, Yu Y, Gao B, et al. Lack of association between valproic acid response and polymorphisms of its metabolism, transport, and receptor genes in children with focal seizures. Neurol Sci. 2019;40:523-528 pubmed publisher
    ..Three variants, rs9313892 (GABRA6, G > A, OR = 2.73, 95% CI 1.00 to 7.48, P = 0.051), rs4921195 (GABRA6, T > C, OR = 2...
  8. Sahni S, Tickoo M, Gupta R, Vaswani M, Ambekar A, Grover T, et al. Association of serotonin and GABA pathway gene polymorphisms with alcohol dependence: A preliminary study. Asian J Psychiatr. 2019;39:169-173 pubmed publisher
    ..002) and rs3219151 with quantity (p = 0.0001). High frequency of GABRA6 rs3219151 TT genotype in AD and its association with lower age at first use, higher intake/day, and higher ..
  9. Ament S, Szelinger S, Glusman G, Ashworth J, Hou L, Akula N, et al. Rare variants in neuronal excitability genes influence risk for bipolar disorder. Proc Natl Acad Sci U S A. 2015;112:3576-81 pubmed publisher
    ..Four uncommon coding and regulatory variants also showed significant association, including a missense variant in GABRA6. Targeted sequencing of 26 of these candidate genes in an additional 3,014 cases and 1,717 controls confirmed rare ..

More Information

Publications41

  1. Trucco E, Hicks B, Villafuerte S, Nigg J, Burmeister M, Zucker R. Temperament and externalizing behavior as mediators of genetic risk on adolescent substance use. J Abnorm Psychol. 2016;125:565-75 pubmed publisher
    ..SLC6A4, 5-HTTLPR), dopaminergic (DRD4, u-VNTR), noradrenergic (SLC6A2, rs36021), and GABAergic (GABRA2, rs279858; GABRA6, rs3811995) genes were examined given prior support for associations with temperament, externalizing behavior, and ..
  2. Russek S. Evolution of GABA(A) receptor diversity in the human genome. Gene. 1999;227:213-22 pubmed
  3. Prasad D, Shaheen U, Satyanarayana U, Prabha T, Jyothy A, Munshi A. Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy. Epilepsy Res. 2014;108:1267-73 pubmed publisher
    ..The present study was carried out with an aim to evaluate the association of GABRA6 (rs3219151) T>C and Syn II (rs37733634) A>G gene polymorphisms with IGE...
  4. Craddock N, Jones L, Jones I, Kirov G, Green E, Grozeva D, et al. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. Mol Psychiatry. 2010;15:146-53 pubmed publisher
    ..Our method of phenotype refinement may be useful in studies of other complex psychiatric and non-psychiatric disorders. ..
  5. Gong Y, Wu C, Xu J, Feng G, Xing Q, Fu W, et al. Polymorphisms in microRNA target sites influence susceptibility to schizophrenia by altering the binding of miRNAs to their targets. Eur Neuropsychopharmacol. 2013;23:1182-9 pubmed publisher
    ..We found that rs3219151 (C>T, GABRA6) showed significant decreased risk for schizophrenia (OR=0.8121, p=0.008, p(adjust)=0.03)...
  6. Peran M, Hooper H, Rayner S, Stephenson F, Salas R. GABAA receptor alpha1 and alpha6 subunits mediate cell surface anchoring in cultured cells. Neurosci Lett. 2004;364:67-70 pubmed
    ..We show that the alpha1 and alpha6 subunits immobilize recombinant GABAAR in transfected cells. This is consistent with the immobility of native receptors in CG cells, which express alpha1 and alpha6. ..
  7. Ren H, Guan L, Zhao L, Lin Y, Wang Y, Yang Z, et al. Contribution of genes in the GABAergic pathway to bipolar disorder and its executive function deficit in the Chinese Han population. Am J Med Genet B Neuropsychiatr Genet. 2017;: pubmed publisher
    ..GABRP, GG for rs11636988 and rs8024256 in GABRB3 and GAGG for rs2197414, rs4921195, rs13188991, and rs11956731 in GABRA6, with p values of 0.0038, 0.044, 0.0176, and 0.0267, respectively, on 10,000 permutations)...
  8. Uhart M, McCaul M, Oswald L, Choi L, Wand G. GABRA6 gene polymorphism and an attenuated stress response. Mol Psychiatry. 2004;9:998-1006 pubmed
    ..the influence of the T1521C single nucleotide polymorphism (SNP) in the GABA(A)alpha6 receptor subunit gene (GABRA6) on the hormonal and autonomic responses to psychological stress induced by the Trier Social Stress Test (TSST)...
  9. Hicks A, Bailey M, Riley B, Kamphuis W, Siciliano M, Johnson K, et al. 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. Genomics. 1994;20:285-8 pubmed
    ..We report here a microsatellite polymorphism within the human alpha 6-subunit gene (GABRA6)...
  10. Kumari R, Lakhan R, Kalita J, Garg R, Misra U, Mittal B. Potential role of GABAA receptor subunit; GABRA6, GABRB2 and GABRR2 gene polymorphisms in epilepsy susceptibility and pharmacotherapy in North Indian population. Clin Chim Acta. 2011;412:1244-8 pubmed publisher
    ..We investigated the possible associations of single nucleotide polymorphisms (SNPs) present in GABRA6 c. 1512 T>C, GABRB2 c. 1412 C>T, and GABRR2 c...
  11. Yang L, Xu T, Zhang K, Wei Z, Li X, Huang M, et al. The essential role of hippocampal alpha6 subunit-containing GABAA receptors in maternal separation stress-induced adolescent depressive behaviors. Behav Brain Res. 2016;313:135-143 pubmed publisher
    ..quantitative PCR and Western blot approaches, we found that alpha6 subunit-containing GABAA receptors (Gabra6-containing GABAA Rs) were expressed on hippocampal interneurons of adolescent rats...
  12. Bedford F, Kittler J, Muller E, Thomas P, Uren J, Merlo D, et al. GABA(A) receptor cell surface number and subunit stability are regulated by the ubiquitin-like protein Plic-1. Nat Neurosci. 2001;4:908-16 pubmed
    ..Our study identifies a previously unknown role for Plic-1, a modulation of GABA(A) receptor cell surface number, which suggests that Plic-1 facilitates accumulation of these receptors in dendritic membranes. ..
  13. Rosmond R, Bouchard C, Bjorntorp P. Association between a variant at the GABA(A)alpha6 receptor subunit gene, abdominal obesity, and cortisol secretion. Ann N Y Acad Sci. 2002;967:566-70 pubmed
    ..the potential impact of a T-to-C substitution at nucleotide 1519 of the GABA(A)alpha6 receptor subunit gene (GABRA6) on obesity and obesity-related phenotypes as well as circulating hormones, including salivary cortisol, in 284 ..
  14. Chang Y, Sun H, Fann C, Chang C, Liao Z, Huang J, et al. Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han. Mol Psychiatry. 2002;7:828-9 pubmed
  15. Hernandez C, Gurba K, Hu N, Macdonald R. The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6?22 and 6?2 GABA(A) receptor channel gating and expression. J Physiol. 2011;589:5857-78 pubmed publisher
  16. Arias B, Aguilera M, Moya J, Saiz P, Villa H, Ibáñez M, et al. The role of genetic variability in the SLC6A4, BDNF and GABRA6 genes in anxiety-related traits. Acta Psychiatr Scand. 2012;125:194-202 pubmed publisher
    ..gene (SLC6A4), the brain-derived neurotrophic factor gene (BDNF) and the GABA(A) ?(6) receptor subunit gene (GABRA6) with anxiety-related traits and to explore putative gene-gene interactions in a Spanish healthy sample...
  17. Tögel M, Mossier B, Fuchs K, Sieghart W. 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. 1994;269:12993-8 pubmed
    ..These data indicate that gamma 3-subunits can combine with most alpha-subunits to form a multiplicity of GABAA receptors with distinct pharmacology. ..
  18. Park C, Park S, Lee C, Sohn J, Hahn G, Kim B. Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population. J Korean Med Sci. 2006;21:533-8 pubmed
  19. Duncan C, Webster M, Rothmond D, Bahn S, Elashoff M, Shannon Weickert C. Prefrontal GABA(A) receptor alpha-subunit expression in normal postnatal human development and schizophrenia. J Psychiatr Res. 2010;44:673-81 pubmed publisher
  20. Foley P, Loh E, Innes D, Williams S, Tannenberg A, Harper C, et al. Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians. Ann N Y Acad Sci. 2004;1025:39-46 pubmed
    ..047), GABAA-beta2 1412C/C (P = .01), or EAAT2 603G/A (P = .022) genotypes. Combined DRD2TaqI A or B with GABAA-beta2 or EAAT2 G603A genotypes may have a concerted influence in the predisposition to alcoholism. ..
  21. Inoue A, Akiyoshi J, Muronaga M, Masuda K, Aizawa S, Hirakawa H, et al. Association of TMEM132D, COMT, and GABRA6 genotypes with cingulate, frontal cortex and hippocampal emotional processing in panic and major depressive disorder. Int J Psychiatry Clin Pract. 2015;19:192-200 pubmed publisher
    ..132D (TMEM132D), catechol-O-methyltransferase (COMT), and gamma-aminobutyric acid (GABA) receptor alpha 6 subunit (GABRA6) genotypes with cingulate, frontal cortex and hippocampal emotional processing in panic disorder (PD) and major ..
  22. Green E, Grozeva D, Moskvina V, Hamshere M, Jones I, Jones L, et al. Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:1347-9 pubmed publisher
    ..Here we provide suggestive evidence implicating a sixth member of the gene family, GABRR1 (gene-wide P = 0.0058; experiment-wide corrected significance P = 0.052). ..
  23. Sen S, Villafuerte S, Nesse R, Stoltenberg S, Hopcian J, Gleiberman L, et al. Serotonin transporter and GABAA alpha 6 receptor variants are associated with neuroticism. Biol Psychiatry. 2004;55:244-9 pubmed
    ..These findings support a role for the serotonin transporter and GABA(A) alpha6 subunit in depression-related traits. ..
  24. Rosmond R, Bouchard C, Bjorntorp P. Allelic variants in the GABA(A)alpha6 receptor subunit gene (GABRA6) is associated with abdominal obesity and cortisol secretion. Int J Obes Relat Metab Disord. 2002;26:938-41 pubmed
    ..We examined the potential impact of a 1519T>C polymorphism in the GABA(A)alpha6 receptor subunit (GABRA6) gene on obesity and obesity-related phenotypes as well as circulating hormones, including salivary cortisol in ..
  25. Petryshen T, Middleton F, Tahl A, Rockwell G, Purcell S, Aldinger K, et al. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. Mol Psychiatry. 2005;10:1074-88, 1057 pubmed
    ..association approach to investigate a group of gamma-aminobutyric acid (GABA) A receptor subunit genes (GABRA1, GABRA6, GABRB2, GABRG2, and GABRP) within our linkage peak...
  26. Gonda X, Sarginson J, Eszlari N, Petschner P, Toth Z, Baksa D, et al. A new stress sensor and risk factor for suicide: the T allele of the functional genetic variant in the GABRA6 gene. Sci Rep. 2017;7:12887 pubmed publisher
    Low GABA transmission has been reported in suicide, and GABRA6 rs3219151 T allele has been associated with greater physiological and endocrine stress response in previous studies...
  27. Wang W, Stock R, Gronostajski R, Wong Y, Schachner M, Kilpatrick D. A role for nuclear factor I in the intrinsic control of cerebellar granule neuron gene expression. J Biol Chem. 2004;279:53491-7 pubmed
    ..The alpha6 subunit of the gamma-aminobutyric acid type A (GABA(A)) receptor (GABRA6) is preferentially expressed in cerebellar granule neurons and is part of an intrinsic program directing their ..
  28. Ooteman W, Naassila M, Koeter M, Verheul R, Schippers G, Houchi H, et al. Predicting the effect of naltrexone and acamprosate in alcohol-dependent patients using genetic indicators. Addict Biol. 2009;14:328-37 pubmed publisher
    ..Significant matching effects were found for polymorphisms at the DRD2, GABRA6 and GABRB2 gene. In addition, a trend was found for the OPRM1 polymorphism...
  29. Lynch M, Manly J, Cicchetti D. A multilevel prediction of physiological response to challenge: Interactions among child maltreatment, neighborhood crime, endothelial nitric oxide synthase gene (eNOS), and GABA(A) receptor subunit alpha-6 gene (GABRA6). Dev Psychopathol. 2015;27:1471-87 pubmed publisher
    ..polymorphisms of the endothelial nitric oxide synthase gene (eNOS) and GABA(A) receptor subunit alpha-6 gene (GABRA6). One hundred eighty-six children were recruited at age 4...
  30. Lucht M, Barnow S, Schroeder W, Grabe H, Finckh U, John U, et al. Negative perceived paternal parenting is associated with dopamine D2 receptor exon 8 and GABA(A) alpha 6 receptor variants: an explorative study. Am J Med Genet B Neuropsychiatr Genet. 2006;141B:167-72 pubmed
    ..Similarly, the Pro385Ser variant of GABRA6, the polymorphic gene for GABA(A) receptor alpha6 subunit, has been associated with alcohol- and depression-..
  31. Zeng Q, Yang X, Zhang J, Liu A, Yang Z, Liu X, et al. Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. J Hum Genet. 2018;63:9-18 pubmed publisher
    ..9%). A total of 42 families had PRRT2 mutations, 9 had KCNQ2 mutations, 8 had SCN2A mutations, and 1 had a GABRA6 mutation. In total three of four BFNE families were detected with KCNQ2 mutations...
  32. Hadingham K, Garrett E, Wafford K, Bain C, Heavens R, Sirinathsinghji D, et al. Cloning of cDNAs encoding the human gamma-aminobutyric acid type A receptor alpha 6 subunit and characterization of the pharmacology of alpha 6-containing receptors. Mol Pharmacol. 1996;49:253-9 pubmed
    ..This observation demonstrates definitively that efficacy of benzodiazepine compounds cannot be generalized across receptor subtypes and may also help explain some of the behavioral effects that have been reported for these compounds. ..