Description: Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA. RefSeq Summary (NM_198903): This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr5:161,494,648-161,582,545 Size: 87,898 Total Exon Count: 11 Strand: + Coding Region Position: hg19 chr5:161,495,006-161,580,374 Size: 85,369 Coding Exon Count: 11
ID:F5HB82_HUMAN DESCRIPTION: SubName: Full=Gamma-aminobutyric acid receptor subunit gamma-2; SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) family. CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
alcohol dependence Chang YT et al. 2002, Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han., Molecular psychiatry. 2002 ;7(8):828-9.
[PubMed 12232773]
These LD findings, together with the association results, suggest that the GABRA6 and GABRA1 genes account for alcohol susceptibility in Han and exert their genetic influences in a somewhat dominant and synergistic fashion.
alcohol-dependence Loh EW et al. 1999, Association between variants at the GABAAbeta2 GABAAalpha6 and GABAAgamma2 gene cluster and alcohol dependence in a Scottish population., Molecular psychiatry. 1999 Nov;4(6):539-44.
[PubMed 10578235]
alcohol-dependence Loh EW et al. 1999, Association between variants at the GABAAbeta2 GABAAalpha6 and GABAAgamma2 gene cluster and alcohol dependence in a Scottish population., Molecular psychiatry. 1999 Nov;4(6):539-44.
[PubMed 10578235]
Our findings provide evidence for a role for the GABAA receptor subunit cluster on chromosome 5q33 in susceptibility to the alcohol dependence syndrome and Korsakoff's psychosis.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on F5HB82
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
