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Gene Review

GABRB3  -  gamma-aminobutyric acid (GABA) A receptor,...

Homo sapiens

Synonyms: GABA(A) receptor subunit beta-3, Gamma-aminobutyric acid receptor subunit beta-3
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Disease relevance of GABRB3


Psychiatry related information on GABRB3

  • Use of the multiallelic transmission-disequilibrium test (MTDT), for nine loci on 15q11-13, revealed linkage disequilibrium between autistic disorder and a marker in the gamma-aminobutyric acidA receptor subunit gene, GABRB3 155CA-2 (MTDT 28.63, 10 df, P=.0014) [5].
  • In conclusion, the present study indicates that in a population of PTSD patients, heterozygosity of the GABRB3 major (G1) allele confers higher levels of somatic symptoms, anxiety/insomnia, social dysfunction and depression than found in homozygosity [6].

High impact information on GABRB3

  • Uniparental disomy or hemizygous deletion of chromosome 15 results in altered allele-specific replication kinetics compared with normals, suggesting that allele-specific replication within the GABRB3/A5 region may be regulated by reciprocal imprints on the maternal and paternal chromosomes [7].
  • Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution [7].
  • Evidence of linkage was obtained with a parametric two-point linkage analysis (maximum LOD score of 5.56 at a recombination fraction of 0.001 for marker GABRB3) and was supported by multipoint analysis (maximum LOD score of 6.54 between markers D15S113 and D15S1019) [8].
  • The convergence of GABRB3 as a positional and functional candidate along with the linkage-disequilibrium data suggests the need for further investigation of the role of GABRB3 or adjacent genes in autistic disorder [5].
  • In both cases, high-resolution banding of the long arm was normal, and FISH of probes D15S11, SNRPN, D15S10, and GABRB3 indicated no loss of this material [9].

Biological context of GABRB3

  • The loss of the single gene, gabrb3, in these mice is sufficient to cause phenotypic traits that have marked similarities to the clinical features of AS, indicating that impaired expression of the GABRB3 gene in humans probably contributes to the overall phenotype of Angelman syndrome [10].
  • 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 [3].
  • GABRB3 spans 250 kb of DNA and is organized into 9 exons that range from 68 to 504 bp, while GABRA5 is encoded by 11 exons (65 to 924 bp in length) within 86 kb [3].
  • RA treatment increased RARA gene expression in both cell populations but upregulated GABRB3 mRNA expression only in N-SP cells [11].
  • Deletion of this gene (GABRB3) was found in AS and PWS patients with interstitial cytogenetic deletions [12].

Anatomical context of GABRB3

  • Moreover, we demonstrated for the first time that GABA receptor (GABRB3) mRNA expression was upregulated in human CLP-SP fibroblasts [11].
  • Several genes/transcripts (for example, GABRA5, GABRB3) had increased expression in UPD cell lines compared with deletion, but less than controls indicating paternal bias [13].
  • However, when present in lymphocytes of the cancer patients, all 3 loci change their replication mode: alleles of TP53 and D21S55 become asynchronous, whereas the early replicating allele of GABRB3 delays replication, leading to relaxation in the imprinted mode of replication [14].

Associations of GABRB3 with chemical compounds

  • As the dopaminergic and GABAergic systems have been implicated in alcohol-related behaviors, variants of the D2 dopamine receptor (DRD2) and GABA(A) receptor beta3 subunit (GABRB3) genes were determined in a population-based association study of Caucasian non-alcoholic and alcoholic subjects [15].
  • Previous studies have suggested that the serotonin transporter (5-HTT) gene and the gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene, or other genes in the 15q11-q13 region, are possibly involved in susceptibility to autism [16].

Other interactions of GABRB3


Analytical, diagnostic and therapeutic context of GABRB3


  1. 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. Sinnett, D., Wagstaff, J., Glatt, K., Woolf, E., Kirkness, E.J., Lalande, M. Am. J. Hum. Genet. (1993) [Pubmed]
  2. Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate. Scapoli, L., Martinelli, M., Pezzetti, F., Carinci, F., Bodo, M., Tognon, M., Carinci, P. Hum. Genet. (2002) [Pubmed]
  3. Structure and organization of GABRB3 and GABRA5. Glatt, K., Glatt, H., Lalande, M. Genomics (1997) [Pubmed]
  4. The human gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster in chromosome 15q11-q13 is rich in highly polymorphic (CA)n repeats. Glatt, K., Sinnett, D., Lalande, M. Genomics (1994) [Pubmed]
  5. Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Cook, E.H., Courchesne, R.Y., Cox, N.J., Lord, C., Gonen, D., Guter, S.J., Lincoln, A., Nix, K., Haas, R., Leventhal, B.L., Courchesne, E. Am. J. Hum. Genet. (1998) [Pubmed]
  6. GABA(A) receptor beta 3 subunit gene and psychiatric morbidity in a post-traumatic stress disorder population. Feusner, J., Ritchie, T., Lawford, B., Young, R.M., Kann, B., Noble, E.P. Psychiatry research. (2001) [Pubmed]
  7. Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution. LaSalle, J.M., Lalande, M. Nat. Genet. (1995) [Pubmed]
  8. A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes. Russo, L., Mariotti, P., Sangiorgi, E., Giordano, T., Ricci, I., Lupi, F., Chiera, R., Guzzetta, F., Neri, G., Gurrieri, F. Am. J. Hum. Genet. (2005) [Pubmed]
  9. The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction. Toth-Fejel, S., Olson, S., Gunter, K., Quan, F., Wolford, J., Popovich, B.W., Magenis, R.E. Am. J. Hum. Genet. (1996) [Pubmed]
  10. Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. DeLorey, T.M., Handforth, A., Anagnostaras, S.G., Homanics, G.E., Minassian, B.A., Asatourian, A., Fanselow, M.S., Delgado-Escueta, A., Ellison, G.D., Olsen, R.W. J. Neurosci. (1998) [Pubmed]
  11. Retinoic acid, GABA-ergic, and TGF-beta signaling systems are involved in human cleft palate fibroblast phenotype. Baroni, T., Bellucci, C., Lilli, C., Pezzetti, F., Carinci, F., Becchetti, E., Carinci, P., Stabellini, G., Calvitti, M., Lumare, E., Bodo, M. Mol. Med. (2006) [Pubmed]
  12. Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. Wagstaff, J., Knoll, J.H., Fleming, J., Kirkness, E.F., Martin-Gallardo, A., Greenberg, F., Graham, J.M., Menninger, J., Ward, D., Venter, J.C. Am. J. Hum. Genet. (1991) [Pubmed]
  13. Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD. Bittel, D.C., Kibiryeva, N., Talebizadeh, Z., Butler, M.G. J. Med. Genet. (2003) [Pubmed]
  14. Modification in the inherent mode of allelic replication in lymphocytes of patients suffering from renal cell carcinoma: a novel genetic alteration associated with malignancy. Dotan, Z.A., Dotan, A., Litmanovitch, T., Ravia, Y., Oniashvili, N., Leibovitch, I., Ramon, J., Avivi, L. Genes Chromosomes Cancer (2000) [Pubmed]
  15. D2 dopamine receptor and GABA(A) receptor beta3 subunit genes and alcoholism. Noble, E.P., Zhang, X., Ritchie, T., Lawford, B.R., Grosser, S.C., Young, R.M., Sparkes, R.S. Psychiatry research. (1998) [Pubmed]
  16. Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium. Maestrini, E., Lai, C., Marlow, A., Matthews, N., Wallace, S., Bailey, A., Cook, E.H., Weeks, D.E., Monaco, A.P. Am. J. Med. Genet. (1999) [Pubmed]
  17. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Samaco, R.C., Hogart, A., LaSalle, J.M. Hum. Mol. Genet. (2005) [Pubmed]
  18. Association and linkage studies of candidate genes involved in GABAergic neurotransmission in lithium-responsive bipolar disorder. Duffy, A., Turecki, G., Grof, P., Cavazzoni, P., Grof, E., Joober, R., Ahrens, B., Berghöfer, A., Müller-Oerlinghausen, B., Dvoráková, M., Libigerová, E., Vojtĕchovský, M., Zvolský, P., Nilsson, A., Licht, R.W., Rasmussen, N.A., Schou, M., Vestergaard, P., Holzinger, A., Schumann, C., Thau, K., Robertson, C., Rouleau, G.A., Alda, M. Journal of psychiatry & neuroscience : JPN. (2000) [Pubmed]
  19. Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder. Menold, M.M., Shao, Y., Wolpert, C.M., Donnelly, S.L., Raiford, K.L., Martin, E.R., Ravan, S.A., Abramson, R.K., Wright, H.H., Delong, G.R., Cuccaro, M.L., Pericak-Vance, M.A., Gilbert, J.R. J. Neurogenet. (2001) [Pubmed]
  20. 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). Kirkness, E.F., Fraser, C.M. J. Biol. Chem. (1993) [Pubmed]
  21. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Mutirangura, A., Greenberg, F., Butler, M.G., Malcolm, S., Nicholls, R.D., Chakravarti, A., Ledbetter, D.H. Hum. Mol. Genet. (1993) [Pubmed]
  22. Angelman syndrome: validation of molecular cytogenetic analysis of chromosome 15q11-q13 for deletion detection. White, L., Knoll, J.H. Am. J. Med. Genet. (1995) [Pubmed]
  23. Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy. Lü, J.J., Zhang, Y.H., Pan, H., Chen, Y.C., Liu, X.Y., Jiang, Y.W., Bao, X.H., Shen, Y., Wu, H.S., Xu, K.M., Wu, X.R. Chin. Med. J. (2004) [Pubmed]
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