GABRB3

Summary

Gene Symbol: GABRB3
Description: gamma-aminobutyric acid type A receptor beta3 subunit
Alias: ECA5, EIEE43, gamma-aminobutyric acid receptor subunit beta-3, GABA-alpha receptor beta-2 subunit, GABAA receptor beta-3 subunit, gamma-aminobutyric acid (GABA) A receptor, beta 3, gamma-aminobutyric acid A receptor beta 3
Species: human
Products:     GABRB3

Top Publications

  1. Young R, Lawford B, Feeney G, Ritchie T, Noble E. Alcohol-related expectancies are associated with the D2 dopamine receptor and GABAA receptor beta3 subunit genes. Psychiatry Res. 2004;127:171-83 pubmed
    ..of alcohol dependence, including alleles of the D2 dopamine receptor (DRD2) and the GABAA receptor beta3 subunit (GABRB3) genes...
  2. Samaco R, Hogart A, LaSalle J. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet. 2005;14:483-92 pubmed
    ..hypothesis that MECP2 deficiency may affect the level of expression of UBE3A and neighboring autism candidate gene GABRB3 without necessarily affecting imprinted expression...
  3. Saras A, Gisselmann G, Vogt Eisele A, Erlkamp K, Kletke O, Pusch H, et al. Histamine action on vertebrate GABAA receptors: direct channel gating and potentiation of GABA responses. J Biol Chem. 2008;283:10470-5 pubmed publisher
    ..We show here for the first time that histamine modulates heteromultimeric GABA(A) receptors and may thus represent an endogenous ligand for an allosteric site. ..
  4. Kirkness E, Fraser C. A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type A receptor beta 3 subunit (GABRB3). J Biol Chem. 1993;268:4420-8 pubmed
    ..The promoter element was shown to bind Sp1 and at least one other unidentified nuclear factor. ..
  5. Meguro M, Mitsuya K, Sui H, Shigenami K, Kugoh H, Nakao M, et al. Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer. Hum Mol Genet. 1997;6:2127-33 pubmed
    ..Using this system, we first demonstrated that human GABAAreceptor subunit genes, GABRB3 , GABRA5 and GABRG3 , were expressed exclusively from the paternal allele and that E6-AP (E6-associated protein or ..
  6. Buxbaum J, Silverman J, Smith C, Greenberg D, Kilifarski M, Reichert J, et al. Association between a GABRB3 polymorphism and autism. Mol Psychiatry. 2002;7:311-6 pubmed
    ..linkage and association, and a marker (155CA-2) in the gamma-aminobutyric acid type-A receptor beta3 subunit gene (GABRB3) has been associated in one study(2) but not others...
  7. Kim S, Kim J, Park M, Cho I, Yoo H. Association of GABRB3 polymorphisms with autism spectrum disorders in Korean trios. Neuropsychobiology. 2006;54:160-5 pubmed
    ..The association and linkage study for the gamma-aminobutyric acid type A receptor beta3 subunit gene (GABRB3), located within the chromosome 15q11-q13 autism candidate region, and ASD have been evaluated...
  8. Minuk G, Zhang M, Gong Y, Minuk L, Dienes H, Pettigrew N, et al. Decreased hepatocyte membrane potential differences and GABAA-beta3 expression in human hepatocellular carcinoma. Hepatology. 2007;45:735-45 pubmed
  9. Lachance Touchette P, Martin C, Poulin C, Gravel M, Carmant L, Cossette P. Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy. Epilepsia. 2010;51:1894-7 pubmed publisher
    Mutations in the GABRB3 have been recently associated with childhood absence epilepsy (CAE) in families from Honduras and Mexico...

More Information

Publications131 found, 100 shown here

  1. Buhr A, Bianchi M, Baur R, Courtet P, Pignay V, Boulenger J, et al. Functional characterization of the new human GABA(A) receptor mutation beta3(R192H). Hum Genet. 2002;111:154-60 pubmed
    ..The mutation beta3(R192H) might, therefore, be linked to this condition. The intron/exon boundaries of the alpha1 subunit gene were also established and three additional variants were found in the alpha1 and beta3 genes. ..
  2. Gurba K, Hernandez C, Hu N, Macdonald R. GABRB3 mutation, G32R, associated with childhood absence epilepsy alters ?1?3?2L ?-aminobutyric acid type A (GABAA) receptor expression and channel gating. J Biol Chem. 2012;287:12083-97 pubmed publisher
    ..Our results suggest both a mechanism for mutation-induced hyperexcitability and a novel role for the ?3 subunit N-terminal ?-helix in receptor assembly and gating. ..
  3. Urak L, Feucht M, Fathi N, Hornik K, Fuchs K. A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. Hum Mol Genet. 2006;15:2533-41 pubmed
    ..In a previous study of our group, an association between the GABA(A) receptor beta3 subunit (GABRB3) gene and CAE was shown...
  4. Hogart A, Nagarajan R, Patzel K, Yasui D, LaSalle J. 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Hum Mol Genet. 2007;16:691-703 pubmed
    ..is a complex locus containing imprinted genes as well as a cluster of three GABA(A) receptor subunit (GABR) genes-GABRB3, GABRA5 and GABRG3...
  5. Tanaka M, Olsen R, Medina M, Schwartz E, Alonso M, Duron R, et al. Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet. 2008;82:1249-61 pubmed publisher
    ..We screened for mutations in the GABA(A) receptor (GABAR) beta 3 subunit gene (GABRB3) in 48 probands and families with remitting CAE...
  6. Conner B, Hellemann G, Ritchie T, Noble E. Genetic, personality, and environmental predictors of drug use in adolescents. J Subst Abuse Treat. 2010;38:178-90 pubmed publisher
    ..genes (ANKK1 TaqI A, DRD2 C957T, DRD4 7R, COMT Val/Met substitution, and SLC6A3 9R) and a GABAergic gene (GABRB3), all combinations of genes, a count of the number of hypodopaminergic genotypes, personality traits, ..
  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
    ..associated with BDI (TA and AG for rs3815762 and rs4868029 in 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...
  8. Mastrangelo M. Lennox-Gastaut Syndrome: A State of the Art Review. Neuropediatrics. 2017;48:143-151 pubmed publisher
    ..genomic hybridization associated with late-onset cases or pathogenic mutations involving genes, such as GABRB3, ALG13, SCN8A, STXBP1, DNM1, FOXG1, or CHD2...
  9. Martinez M, Duarte C, Stohn J, Karaczyn A, Wu Z, DeMambro V, et al. Thyroid hormone influences brain gene expression programs and behaviors in later generations by altering germ line epigenetic information. Mol Psychiatry. 2018;: pubmed publisher
    ..Some of them were candidates for neurodevelopmental disorders in humans including Nrg3, Nrxn1, Gabrb3, Gabra5, Apba2, Grik3, Reln, Nsd1, Pcdh8, En1, and Elavl2...
  10. Ghafouri Fard S, Taheri M, Omrani M, Daaee A, Mohammad Rahimi H, Kazazi H. Application of Single-Nucleotide Polymorphisms in the Diagnosis of Autism Spectrum Disorders: A Preliminary Study with Artificial Neural Networks. J Mol Neurosci. 2019;: pubmed publisher
    ..within retinoic acid-related orphan receptor alpha (RORA), gamma-aminobutyric acid type A receptor beta3 subunit (GABRB3), synaptosomal-associated protein 25 (SNAP25) and metabotropic glutamate receptor 7 (GRM7) genes...
  11. Shukla P, Meena A, Rao R, Rao R. Deletion of TLR-4 attenuates fetal alcohol exposure-induced gene expression and social interaction deficits. Alcohol. 2018;73:73-78 pubmed publisher
    ..Frontal cortex mRNA expression of autistic candidate genes (Ube3a, Gabrb3, Mecp2) and inflammatory cytokine genes (IL-1β, IL-6, TNF-α) were measured by RT-qPCR...
  12. Zhu X, Yao Y, Li X, Dong J, Zhang A. Alteration of GABAergic signaling is associated with anxiety-like behavior in temporal lobe epilepsy mice. Prog Neuropsychopharmacol Biol Psychiatry. 2019;93:141-148 pubmed publisher
    ..by a decrease in GABAergic interneurons and an increase in GABA type A receptor (GABAAR) β3 subunit (GABRB3) expression in the hippocampus...
  13. Mahdavi M, Kheirollahi M, Riahi R, Khorvash F, Khorrami M, Mirsafaie M. Meta-Analysis of the Association between GABA Receptor Polymorphisms and Autism Spectrum Disorder (ASD). J Mol Neurosci. 2018;65:1-9 pubmed publisher
    ..case-control studies involving 1408 cases and 2846 healthy controls were analyzed, namely, 8 studies for GABRB3 SNPs as well as 4 studies for GABRA5 and GABRG3 polymorphisms...
  14. Yoo H, Chung S, Hong J, Kim B, Cho S. Microsatellite marker in gamma - aminobutyric acid - a receptor beta 3 subunit gene and autism spectrum disorders in Korean trios. Yonsei Med J. 2009;50:304-6 pubmed publisher
    This study aimed to identify the association between gamma-aminobutyric acid-A (GABA-A) receptor subunit beta3 (GABRB3) gene and autism spectrum disorders (ASD) in Korea. Fifty-eight children with ASD [47 boys (81.0%), 5.5 +/- 4...
  15. Li S, Luo Z, Lu B, Xia S, Li C, Guan X, et al. Protective effects of lycopene on kainic acid-induced seizures. Epilepsy Res. 2019;151:1-6 pubmed publisher
    ..LCP suppressed the upregulation of gabrb2 and gabrb3 induced by KA, whereas it enhanced the expression of gabrb1...
  16. Davies P, Hanna M, Hales T, Kirkness E. Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit. Nature. 1997;385:820-3 pubmed
    ..The expression pattern of this subunit in the brain suggests a new target for manipulation of neuronal pathways within the basal ganglia. ..
  17. Miller P, Aricescu A. Crystal structure of a human GABAA receptor. Nature. 2014;512:270-5 pubmed publisher
    ..These results offer new insights into the signalling mechanisms of pentameric ligand-gated ion channels and enhance current understanding of GABAergic neurotransmission. ..
  18. Liu J, Tong L, Song S, Niu Y, Li J, Wu X, et al. Novel and de novo mutations in pediatric refractory epilepsy. Mol Brain. 2018;11:48 pubmed publisher
    ..Other novel mutations detected in unclassified epilepsy patients involve the SCN8A, CACNA1A, GABRB3, GABRA1, IQSEC2, TSC1, VRK2, ATP1A2, PCDH19, SLC9A6 and CHD2 genes...
  19. Saliba R, Pangalos M, Moss S. The ubiquitin-like protein Plic-1 enhances the membrane insertion of GABAA receptors by increasing their stability within the endoplasmic reticulum. J Biol Chem. 2008;283:18538-44 pubmed publisher
    ..Thus, Plic-1 may play a significant role in regulating the strength of synaptic inhibition by increasing the stability of GABA(A)Rs within the secretory pathway and thereby promoting their insertion into the neuronal plasma membrane. ..
  20. Trump N, McTague A, Brittain H, Papandreou A, Meyer E, Ngoh A, et al. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. J Med Genet. 2016;53:310-7 pubmed publisher
    ..Mutations in EHMT1, GABRB3, LGI1, MBD5, PIGA, UBE3A and ZEB2 were each found in single patients...
  21. Wang L, Li J, Shuang M, Lu T, Wang Z, Zhang T, et al. Association study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han population. Transl Psychiatry. 2018;8:152 pubmed publisher
    ..Val233Met) and rs201427468 (p.Pro365Ser) in GABRG3 and six rare variants in GABRB3 in autistic patients. Among these variants, rs201602655 (p...
  22. Funato N, Yanagisawa H. Deletion of the T-box transcription factor gene, Tbx1, in mice induces differential expression of genes associated with cleft palate in humans. Arch Oral Biol. 2018;95:149-155 pubmed publisher
    ..chain 3 (Myh3) and nebulin (Neb), were downregulated and gamma-aminobutyric acid type A receptor beta 3 subunit (Gabrb3) was upregulated...
  23. Pirker S, Schwarzer C, Czech T, Baumgartner C, Pockberger H, Maier H, et al. Increased expression of GABA(A) receptor beta-subunits in the hippocampus of patients with temporal lobe epilepsy. J Neuropathol Exp Neurol. 2003;62:820-34 pubmed
    ..Our data indicate pronounced adaptive changes in the expression of these GABA(A) receptor subunits related to seizure activity and indicate altered assembly of GABA(A) receptors in TLE. ..
  24. Scapoli L, Martinelli M, Pezzetti F, Carinci F, Bodo M, Tognon M, et al. Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate. Hum Genet. 2002;110:15-20 pubmed
    ..five different candidate genes, including those for the beta3 subunit of the gamma-aminobutyric acid receptor (GABRB3), glutamic acid decarboxylase 1 (GAD1), retinoic acid receptor alpha (RARA), transforming growth factor beta3 (..
  25. Hsu C, Lin P, Lin H, Lai C, Yang C, Lin S, et al. Altered Expression of Imprinted Genes in Squamous Cell Carcinoma of the Head and Neck. Anticancer Res. 2016;36:2251-8 pubmed
    ..2 (IGF2); solute carrier family 22 member 3 (SLC22A3); and gamma-aminobutyric acid type A receptor beta3 subunit (GABRB3) was observed. Down-regulation of PPP1R9A (p<0.05) and GABRB3 (p<0...
  26. Wang H, Jeffries J, Wang T. Genetic and Developmental Perspective of Language Abnormality in Autism and Schizophrenia: One Disease Occurring at Different Ages in Humans?. Neuroscientist. 2016;22:119-31 pubmed publisher
    ..We found many functional genes, for example, FOXP2, COMT, GABRB3, and DISC1, are actually implicated in both of them...
  27. Aarabi M, San Gabriel M, Chan D, Behan N, Caron M, Pastinen T, et al. High-dose folic acid supplementation alters the human sperm methylome and is influenced by the MTHFR C677T polymorphism. Hum Mol Genet. 2015;24:6301-13 pubmed publisher
    ..genes involved in cancer and neurobehavioral disorders including CBFA2T3, PTPN6, COL18A1, ALDH2, UBE4B, ERBB2, GABRB3, CNTNAP4 and NIPA1...
  28. Glatt K, Glatt H, Lalande M. Structure and organization of GABRB3 and GABRA5. Genomics. 1997;41:63-9 pubmed
    The genes encoding the gamma-aminobutyric acid (GABA) type-A receptor subunits beta 3 (GABRB3), alpha 5 (GABRA5), and gamma 3 (GABRG3) map to chromosome 15q11-q13...
  29. Ashley Koch A, Mei H, Jaworski J, Ma D, Ritchie M, Menold M, et al. An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder. Ann Hum Genet. 2006;70:281-92 pubmed
    ..We applied our paradigm to genotype data from three GABAA receptor subunit genes (GABRB3, GABRA5, and GABRG3) on chromosome 15 in 470 Caucasian autism families...
  30. Namkoong K, Cheon K, Kim J, Jun J, Lee J. Association study of dopamine D2, D4 receptor gene, GABAA receptor beta subunit gene, serotonin transporter gene polymorphism with children of alcoholics in Korea: a preliminary study. Alcohol. 2008;42:77-81 pubmed publisher
    ..several researchers reported that the COAs might be associated with the GABA A receptor beta3 subunit gene (GABRB3) and serotonin transporter gene (5-HTTLPR)...
  31. Hirose S. Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy. Prog Brain Res. 2014;213:55-85 pubmed publisher
    ..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 febrile seizures...
  32. Rollero S, Mouret J, Sanchez I, Camarasa C, Ortiz Julien A, Sablayrolles J, et al. Key role of lipid management in nitrogen and aroma metabolism in an evolved wine yeast strain. Microb Cell Fact. 2016;15:32 pubmed publisher
    ..An evolved strain, Affinityâ„¢ ECA5, overproducing esters, was recently obtained...
  33. Childs B, Bohlscheid J, Edwards C. Impact of available nitrogen and sugar concentration in musts on alcoholic fermentation and subsequent wine spoilage by Brettanomyces bruxellensis. Food Microbiol. 2015;46:604-9 pubmed publisher
    ..S. cerevisiae ECA5 (low nitrogen requirement) or Uvaferm 228 (high nitrogen requirement) were inoculated at 10(5) cfu/mL while B...
  34. Charych E, Yu W, Miralles C, Serwanski D, Li X, Rubio M, et al. The brefeldin A-inhibited GDP/GTP exchange factor 2, a protein involved in vesicular trafficking, interacts with the beta subunits of the GABA receptors. J Neurochem. 2004;90:173-89 pubmed
    ..The results are consistent with the hypotheses that the interaction of BIG2 with the GABA(A)R beta subunits plays a role in the exocytosis and trafficking of assembled GABA(A)R to the cell surface. ..
  35. Adewumi O, Aflatoonian B, Ahrlund Richter L, Amit M, Andrews P, Beighton G, et al. Characterization of human embryonic stem cell lines by the International Stem Cell Initiative. Nat Biotechnol. 2007;25:803-16 pubmed
    ..as well as the strongly developmentally regulated genes NANOG, POU5F1 (formerly known as OCT4), TDGF1, DNMT3B, GABRB3 and GDF3...
  36. 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. ..
  37. Liu M, Fitzgibbon M, Wang Y, Reilly J, Qian X, O BRIEN T, et al. Ulk4 regulates GABAergic signaling and anxiety-related behavior. Transl Psychiatry. 2018;8:43 pubmed publisher
    ..and Nos3, as well as significant upregulation of GABA receptors, including Gabra1, Gabra3, Gabra4, Gabra5, and Gabrb3. This is the first evidence that Ulk4 plays a major role in regulating GABAergic signaling and anxiety-like ..
  38. Wielders C, Van Nierop P, Vormer T, Foijer F, Verheij J, Lodder J, et al. RNAi screening of subtracted transcriptomes reveals tumor suppression by taurine-activated GABAA receptors involved in volume regulation. PLoS ONE. 2018;13:e0196979 pubmed publisher
    ..We found that taurine-responsive GABAA receptor subunits, including GABRA5 and GABRB3, were induced during the arrest of non-transformed anchor-deprived MEFs and prevented anchorless proliferation...
  39. Noroozi R, Taheri M, Ghafouri Fard S, Bidel Z, Omrani M, Moghaddam A, et al. Meta-analysis of GABRB3 Gene Polymorphisms and Susceptibility to Autism Spectrum Disorder. J Mol Neurosci. 2018;65:432-437 pubmed publisher
    Several lines of evidence have suggested that the GABA receptor subunit β3 (GABRB3) gene is a genetic contributor in the autism spectrum disorder (ASD)...
  40. 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
    ..Diagnostic Criteria (RDC) schizoaffective disorder, bipolar type) with gene-wide significance at GABRB1, GABRA4, GABRB3, GABRA5, and GABRR3...
  41. Tochigi M, Kato C, Koishi S, Kawakubo Y, Yamamoto K, Matsumoto H, et al. No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population. J Hum Genet. 2007;52:985-9 pubmed
    The gamma-aminobutyric acid (GABA) receptor genes GABRB3, GABRA5, and GABRG3 located on chromosome 15q11-q13 have been major candidates for susceptibility genes for autism, a neurodevelopmental disorder with a complex genetic etiology...
  42. Hamdan F, Srour M, Capo Chichi J, Daoud H, Nassif C, Patry L, et al. De novo mutations in moderate or severe intellectual disability. PLoS Genet. 2014;10:e1004772 pubmed publisher
    ..A total of 12 likely pathogenic DNMs were identified in genes previously associated with ID (ARID1B, CHD2, FOXG1, GABRB3, GATAD2B, GRIN2B, MBD5, MED13L, SETBP1, TBR1, TCF4, WDR45), resulting in a diagnostic yield of ∼29%...
  43. Provenzano G, Sgadò P, Genovesi S, Zunino G, Casarosa S, Bozzi Y. Hippocampal dysregulation of FMRP/mGluR5 signaling in engrailed-2 knockout mice: a model of autism spectrum disorders. Neuroreport. 2015;26:1101-5 pubmed publisher
    ..exploited En2(-/-) mice to investigate hippocampal expression of FMRP, mGluR5, and GABA(A) receptor β3 subunit (GABRB3)...
  44. Leng S, Liu Y, Weissfeld J, Thomas C, Han Y, Picchi M, et al. 15q12 variants, sputum gene promoter hypermethylation, and lung cancer risk: a GWAS in smokers. J Natl Cancer Inst. 2015;107: pubmed publisher
    ..5×10(-9)). Rs73371737 reduced GABRB3 expression in lung cells and increased risk for smoking-induced chronic mucous hypersecretion...
  45. Orefice L, Zimmerman A, Chirila A, Sleboda S, Head J, Ginty D. Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs. Cell. 2016;166:299-313 pubmed publisher
    ..We report that mice harboring mutations in Mecp2, Gabrb3, Shank3, and Fmr1 genes associated with ASDs in humans exhibit altered tactile discrimination and ..
  46. Dan B, Boyd S. Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis. Neuropediatrics. 2003;34:169-76 pubmed
    ..1) deficient recruitment of functional GABA (A) receptors related to reduced UBE3A gene expression in all cases and (2) decreased amount of beta3 sub-unit in these receptors related to reduced GABRB3 gene expression in deletion cases.
  47. Kothur K, Holman K, Farnsworth E, Ho G, Lorentzos M, Troedson C, et al. Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure. 2018;59:132-140 pubmed publisher
    ..Pathogenic/likely pathogenic variants were found in ALDH7A1 (2), CACNA1A (1), CDKL5 (3), FOXG1 (2), GABRB3 (1), GRIN2A (1), KCNQ2 (4), KCNQ3 (1), PRRT2 (1), SCN1A (6), SCN2A (2), SCN8A (2), SYNGAP1 (1), UBE3A (2) and WWOX ..
  48. Konishi T, Luo H, Calvillo M, Mayo M, Lin K, Wan Y. ADH1B*1, ADH1C*2, DRD2 (-141C Ins), and 5-HTTLPR are associated with alcoholism in Mexican American men living in Los Angeles. Alcohol Clin Exp Res. 2004;28:1145-52 pubmed
    ..049 for TaqI B1 allele). Together, the data reveal unique genetic patterns in Mexican Americans that may be in part responsible for the heightened risk for alcoholism and alcohol-associated health problems in this population. ..
  49. Feusner J, Ritchie T, Lawford B, Young R, Kann B, Noble E. GABA(A) receptor beta 3 subunit gene and psychiatric morbidity in a post-traumatic stress disorder population. Psychiatry Res. 2001;104:109-17 pubmed
    ..As the major allele at this gene locus (GABRB3) was G1, the alleles were divided into G1 and non-G1 groups...
  50. Sesarini C, Costa L, Naymark M, Grañana N, Cajal A, García Coto M, et al. Evidence for interaction between markers in GABA(A) receptor subunit genes in an Argentinean autism spectrum disorder population. Autism Res. 2014;7:162-6 pubmed publisher
    ..Single-nucleotide polymorphisms (SNP) located within the GABA receptor (GABAR) subunit genes GABRA1, GABRG2, GABRB3, and GABRD were screened...
  51. Wagstaff J, Chaillet J, Lalande M. The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. Genomics. 1991;11:1071-8 pubmed
    A cDNA encoding the human GABAA receptor beta 3 subunit has been isolated from a brain cDNA library and its nucleotide sequence has been determined...
  52. Chiara D, Dostalova Z, Jayakar S, Zhou X, Miller K, Cohen J. Mapping general anesthetic binding site(s) in human ?1?3 ?-aminobutyric acid type A receptors with [³H]TDBzl-etomidate, a photoreactive etomidate analogue. Biochemistry. 2012;51:836-47 pubmed publisher
    ..Etomidate-inhibitable photolabeling of ?3Met-227 in ?M1 by [³H]TDBzl-etomidate and [³H]azietomidate also provides evidence of a homologous etomidate binding site at the ?3-?3 subunit interface in the ?1?3 GABA(A)R...
  53. Mercer A, Palarz K, Tabatadze N, Woolley C, Raman I. Sex differences in cerebellar synaptic transmission and sex-specific responses to autism-linked Gabrb3 mutations in mice. elife. 2016;5: pubmed publisher
    ..The cerebellum expresses several autism-linked genes, including GABRB3, which encodes GABAA receptor ?3 subunits and is among the maternal alleles deleted in Angelman syndrome...
  54. Yang S, Guo X, Dong X, Han Y, Gao L, Su Y, et al. GABAA receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders. Sci Rep. 2017;7:3290 pubmed publisher
    GABAA receptor subunit genes GABRB3, GABRA5, and GABRG3 located on chromosome 15q11-q13 have been implicated in the etiology of autistic spectrum disorders (ASD)...
  55. Li S, Kumar T P, Joshee S, Kirschstein T, Subburaju S, Khalili J, et al. Endothelial cell-derived GABA signaling modulates neuronal migration and postnatal behavior. Cell Res. 2017;: pubmed publisher
    ..With the use of two new endothelial cell specific conditional mouse models of the GABA pathway (Gabrb3?Tie2-Cre and Vgat?Tie2-Cre), we show that partial or complete loss of GABA release from ..
  56. Orenstein N, Goldberg Stern H, Straussberg R, Bazak L, Weisz Hubshman M, Kropach N, et al. A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder. Eur J Paediatr Neurol. 2018;22:516-524 pubmed publisher
    ..de novo mutations in genes encoding different subunits of the GABAA receptor (GABRB1, GABRA1, GABRG2, GABRB3) with autosomal dominant epileptic disorders, we conclude that a de novo mutation in GABRA2 is likely to cause ..
  57. Bergen S, Fanous A, Walsh D, O Neill F, Kendler K. Polymorphisms in SLC6A4, PAH, GABRB3, and MAOB and modification of psychotic disorder features. Schizophr Res. 2009;109:94-7 pubmed publisher
    ..transporter (SLC6A4), monoamine oxidase B (MAOB), and the gamma-aminobutyric acid A receptor beta-3 subunit (GABRB3)] for their impact on five schizophrenia symptom factors: delusions, hallucinations, mania, depression, and ..
  58. Macdonald R, Kang J, Gallagher M. Mutations in GABAA receptor subunits associated with genetic epilepsies. J Physiol. 2010;588:1861-9 pubmed publisher
    Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile ..
  59. von Deimling M, Häsler R, Steinbach V, Holterhus P, von Spiczak S, Stephani U, et al. Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern. Epilepsy Res. 2017;132:84-90 pubmed publisher
    ..Previously known genes including GABRA1, GABRB3, GABRG2, and RCN2 showed evidence for up- or down-regulation in individual experiments, but were not reliable ..
  60. Hernandez C, Zhang Y, Hu N, Shen D, Shen W, Liu X, et al. GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy. Sci Rep. 2017;7:15903 pubmed publisher
    ..and structural simulations for three de novo missense mutations in the GABAA receptor β3 subunit gene (GABRB3) identified in patients with early-onset epileptic encephalopathy (EOEE) and profound developmental delay...
  61. Knoll J, Cheng S, Lalande M. Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region. Nat Genet. 1994;6:41-6 pubmed
    ..paternal early/maternal late at D15S63, D15S10 and the gamma-aminobutyric acid receptor beta 3 subunit gene (GABRB3); and maternal early/paternal late at the more distal gamma-aminobutyric acid receptor alpha 5 subunit gene (..
  62. Waldvogel H, Baer K, Gai W, Gilbert R, Rees M, Mohler H, et al. Differential localization of GABAA receptor subunits within the substantia nigra of the human brain: an immunohistochemical study. J Comp Neurol. 2008;506:912-29 pubmed
  63. Filézio M, Bagordakis E, de Aquino S, Pereira Messetti A, Martelli Junior H, Swerts M, et al. Polymorphisms in GABRB3 and oral clefting in the Brazilian population. DNA Cell Biol. 2013;32:125-9 pubmed publisher
    The aim of this study was to evaluate the influence of the ?-aminobutyric acid receptor type A ?-3 subunit (GABRB3) polymorphisms in patients with nonsyndromic cleft lip and/or palate (NSCL/P)...
  64. Janve V, Hernandez C, Verdier K, Hu N, Macdonald R. Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. Ann Neurol. 2016;79:806-825 pubmed publisher
    ..identified 4 de novo mutations in the γ-aminobutyric acid type A (GABAA ) receptor β3 subunit gene GABRB3 and 1 in the β1 subunit gene GABRB1 in children with one of the epileptic encephalopathies (EEs) Lennox-Gastaut ..
  65. Sinnett D, Wagstaff J, Glatt K, Woolf E, Kirkness E, Lalande M. High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients. Am J Hum Genet. 1993;52:1216-29 pubmed
    ..In order to determine the genomic organization of the GABAA receptor beta 3 subunit gene (GABRB3) and alpha 5 subunit gene (GABRA5) in chromosome 15q11-q13, we have constructed a high-..
  66. Johnson S, Haun R. The gamma-aminobutyric acid A receptor pi subunit is overexpressed in pancreatic adenocarcinomas. JOP. 2005;6:136-42 pubmed
    ..In contrast, none of the normal pancreatic tissues analyzed displayed high levels of expression. The expression of the GABAA receptor pi subunit may thus play an important role in the pathogenesis of pancreatic cancer. ..
  67. Sun J, Jayathilake K, Zhao Z, Meltzer H. Investigating association of four gene regions (GABRB3, MAOB, PAH, and SLC6A4) with five symptoms in schizophrenia. Psychiatry Res. 2012;198:202-6 pubmed publisher
    Recently, microsatellite polymorphisms have been reported to be associated with four genes, GABRB3, MAOB, PAH, and SLC6A4, and their relationships have been tested to five symptom factors: hallucinations, delusions, negative symptoms, ..
  68. Møller R, Wuttke T, Helbig I, Marini C, Johannesen K, Brilstra E, et al. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. Neurology. 2017;88:483-492 pubmed publisher
    To examine the role of mutations in GABRB3 encoding the ?3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and ..
  69. Fallahsharoudi A, de Kock N, Johnsson M, Bektic L, Ubhayasekera S, Bergquist J, et al. QTL mapping of stress related gene expression in a cross between domesticated chickens and ancestral red junglefowl. Mol Cell Endocrinol. 2017;446:52-58 pubmed publisher
    ..In the adrenal tissue, we identified eQTL for the genes NR0B1, RGS4, DBH, MAOA, GRIN1, GABRB2, GABRB3, and HSF1. None of the found eQTL were significant predictors of corticosterone levels...
  70. Chen Y, Xu L, Xie H, Xu T, Fu H, Zhang S, et al. Identification of differentially expressed genes response to TCDD in rat brain after long-term low-dose exposure. J Environ Sci (China). 2017;62:92-99 pubmed publisher
    ..Candidate biomarker genes such as egr1, gad2, gabrb3, abca1, ccr5 and pycard may be toxicological targets for dioxin...
  71. Bouthour W, Leroy F, Emmanuelli C, Carnaud M, Dahan M, Poncer J, et al. A human mutation in Gabrg2 associated with generalized epilepsy alters the membrane dynamics of GABAA receptors. Cereb Cortex. 2012;22:1542-53 pubmed publisher
    ..Alteration of the membrane diffusion of neurotransmitter receptors therefore represents a new mechanism in human epilepsy. ..
  72. Pan B, Lian J, Huang X, Deng C. Aripiprazole Increases the PKA Signalling and Expression of the GABAA Receptor and CREB1 in the Nucleus Accumbens of Rats. J Mol Neurosci. 2016;59:36-47 pubmed publisher
    ..The mRNA levels of Gabrb1, Gabrb2, Gabrb3 and Creb1, and their protein expression were measured by qRT-PCR and Western blots, respectively...
  73. Dang V, Surampalli A, Manzardo A, Youn S, Butler M, Gold J, et al. Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3). Cytogenet Genome Res. 2016;150:29-34 pubmed publisher
    ..The deletion extended beyond the GABRB3 gene but was proximal to the usual distal breakpoint (BP3) within the 15q11q13 region, and GABRA5, GABRG3, and ..
  74. Inoue H, Kayano S, Aoki Y, Kure S, Yamada A, Hata A, et al. Association of the GABRB3 gene with nonsyndromic oral clefts. Cleft Palate Craniofac J. 2008;45:261-6 pubmed publisher
    ..normal embryonic, and particularly facial, development and gamma-aminobutyric acid receptor type A beta-3 subunit (GABRB3) knockout mice have been shown to have cleft palate...
  75. Levran O, Peles E, Randesi M, Correa Da Rosa J, Ott J, Rotrosen J, et al. Glutamatergic and GABAergic susceptibility loci for heroin and cocaine addiction in subjects of African and European ancestry. Prog Neuropsychopharmacol Biol Psychiatry. 2016;64:118-23 pubmed publisher
    ..In addition, SNPs GABRB3 rs7165224; DBI rs12613135; GAD1 SNPs rs2058725, rs1978340, rs2241164; and GRIN2A rs1650420 were previously ..
  76. Konishi T, Calvillo M, Leng A, Lin K, Wan Y. Polymorphisms of the dopamine D2 receptor, serotonin transporter, and GABA(A) receptor beta(3) subunit genes and alcoholism in Mexican-Americans. Alcohol. 2004;32:45-52 pubmed
    ..Our findings indicate that the DRD2 -141C Ins allele and the 5-HTTLPR S allele are genetic risk factors for alcoholism in Mexican-Americans, and that smoking modulates the association between genetic risk factors and alcoholism. ..
  77. Morkūniené A, Steponaviciūt D, Utkus A, Kucinskas V. Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania. J Appl Genet. 2007;48:89-91 pubmed
    ..Twenty biallelic and microsatellite DNA markers in the strong candidate loci TGFA, TGFB3, GABRB3, RARA, and BCL3 were analysed for allelic association with the NS-OFC phenotype in 112 nuclear families (proband + ..
  78. Jayakar S, Zhou X, Chiara D, Dostalova Z, Savechenkov P, Bruzik K, et al. Multiple propofol-binding sites in a ?-aminobutyric acid type A receptor (GABAAR) identified using a photoreactive propofol analog. J Biol Chem. 2014;289:27456-68 pubmed publisher
    ..These results establish that AziPm as well as propofol bind to the homologous intersubunit sites in the GABAAR transmembrane domain that binds etomidate or R-mTFD-MPAB with high affinity. ..
  79. Delahanty R, Zhang Y, Bichell T, Shen W, Verdier K, Macdonald R, et al. Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation. Cell Rep. 2016;17:3115-3124 pubmed publisher
    ..b>GABRB3 is located in the 15q11-13 region flanked by UBE3A, GABRA5, GABRG3, and OCA2...
  80. Słopień A, Rajewski A, Budny B, Czerski P. [Evaluation of q11-q13 locus of chromosome 15 aberrations and polymorphisms in the B3 subunit of the GABA-A receptor gene (GABRB3) in autistic patients]. Psychiatr Pol. 2002;36:779-91 pubmed
    ..especially locus q11-q13 of chromosome 15 and polymorphisms in the g-aminobutyric acid receptor subunit B3 gene (GABRB3) and genetic aetiology of autistic disorder...
  81. Baroni T, Bellucci C, Lilli C, Pezzetti F, Carinci F, Becchetti E, et al. Retinoic acid, GABA-ergic, and TGF-beta signaling systems are involved in human cleft palate fibroblast phenotype. Mol Med. 2006;12:237-45 pubmed
    ..Moreover, we demonstrated for the first time that GABA receptor (GABRB3) mRNA expression was upregulated in human CLP-SP fibroblasts...
  82. Yang X, Pan G, Li W, Zhang L, Wu B, Wang H, et al. [Analysis of gene mutation of early onset epileptic spasm with unknown reason]. Zhonghua Er Ke Za Zhi. 2017;55:813-817 pubmed publisher
    ..Nine cases had point mutations, involving SCN2A, ARX, UNC80, KCNQ2, and GABRB3. Except one case of mutations in GABRB3 gene have been reported, all the other cases had new mutations...
  83. Sarto I, Wabnegger L, Dögl E, Sieghart W. Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly. Neuropharmacology. 2002;43:482-91 pubmed
    ..Finally, it was demonstrated that the sequences investigated cause a selective assembly with certain subunits only and thus influence subunit arrangement within GABA(A) receptors. ..
  84. Hosie A, Dunne E, Harvey R, Smart T. Zinc-mediated inhibition of GABA(A) receptors: discrete binding sites underlie subtype specificity. Nat Neurosci. 2003;6:362-9 pubmed
    ..We found that the characteristically low Zn2+ sensitivity of GABA(A) receptors containing the gamma2 subunit results from disruption to two of the three sites after receptor subunit co-assembly. ..
  85. Trudell J. Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling. Biochim Biophys Acta. 2002;1565:91-6 pubmed
    ..In addition to predicting the most likely inter-subunit arrangement, the model predicts which residues form the GABA and benzodiazepine binding sites. ..
  86. Fatemi S, Reutiman T, Folsom T, Thuras P. GABA(A) receptor downregulation in brains of subjects with autism. J Autism Dev Disord. 2009;39:223-30 pubmed publisher
    ..expression of four GABA(A) receptor subunits and observed significant reductions in GABRA1, GABRA2, GABRA3, and GABRB3 in parietal cortex (Brodmann's Area 40 (BA40)), while GABRA1 and GABRB3 were significantly altered in cerebellum, ..
  87. Vieira A, Howe A, Murray J. Studies of gamma-aminobutyric acid type A receptor beta3 (GABRB3) and glutamic acid decarboxylase 67 (GAD67) with oral clefts. Am J Med Genet A. 2008;146A:2828-30 pubmed publisher
  88. Sidorkiewicz M, Brocka M, Bronis M, Grek M, Jozwiak B, Piekarska A, et al. The altered expression of ?1 and ?3 subunits of the gamma-aminobutyric acid A receptor is related to the hepatitis C virus infection. Eur J Clin Microbiol Infect Dis. 2012;31:1537-42 pubmed publisher
    ..The modulation of ?1 and ?3 GABA A receptors subunits expression in PBMCs may be associated with ongoing or past HCV infection. ..
  89. Huang C, Cheng M, Tsai H, Lai C, Chen C. Genetic analysis of GABRB3 at 15q12 as a candidate gene of schizophrenia. Psychiatr Genet. 2014;24:151-7 pubmed publisher
    ..The study aimed to investigate whether the GABRB3 gene mapped to 15q12 was associated with schizophrenia...
  90. Chen C, Huang C, Liao D. Association analysis of GABRB3 promoter variants with heroin dependence. PLoS ONE. 2014;9:e102227 pubmed publisher
    b>GABRB3 encoding the ?3 subunit of GABAA receptor has been implicated in multiple neuropsychiatric disorders, including substance abuse...
  91. Hashimoto T, Arion D, Unger T, Maldonado Avilés J, Morris H, Volk D, et al. Alterations in GABA-related transcriptome in the dorsolateral prefrontal cortex of subjects with schizophrenia. Mol Psychiatry. 2008;13:147-61 pubmed
    ..In concert with previous findings, these data suggest that working memory dysfunction in schizophrenia is mediated by altered GABA neurotransmission in certain DLPFC microcircuits. ..
  92. 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
    ..6 x 10(-5)) with association signals also at GABRA4, GABRB3, GABRA5 and GABRR3...