Human Gene GABRA3 (uc010ntk.1) Description and Page Index
Description: Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA. RefSeq Summary (NM_000808): GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.180828.1, SRR1660803.154983.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000370314.9/ ENSP00000359337.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chrX:151,335,634-151,619,831 Size: 284,198 Total Exon Count: 10 Strand: - Coding Region Position: hg19 chrX:151,336,700-151,533,042 Size: 196,343 Coding Exon Count: 9
depressive disorder, major Henkel, V. et al. 2004, The gamma amino butyric acid (GABA) receptor alpha-3 subunit gene polymorphism in unipolar depressive disorder: A genetic association study, American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Apr;126(1):82-7.
[PubMed 15048654]
The results of our study indicate that GABRA 3 gene might also be involved in the genetic pathophysiology of unipolar major depressive disorder (at least in female patients), even if the findings do not support a predominant role of GABRA 3.
multiple sclerosis Gade-Andavolu R et al. 1998, Association between the gamma-aminobutyric acid A3 receptor gene and multiple sclerosis., Archives of neurology. 1998 Apr;55(4):513-6.
[PubMed 9561979]
These results suggest the GABRA3 gene may be a risk factor for MS. As with the DRD2 gene, the effect may be mediated through its regulation of prolactin release.
Generated from 1000 Genomes Phase1 variants (help). Note the association of SNP alleles within a haplotype is statistically imputed rather than directly observed in most cases.
Restricted to 0 non-synonymous, common variant sites with a frequency of occurrence of at least 1%.
0 non-reference haplotypes were found using common variants.
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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Protein Domain and Structure Information
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Orthologous Genes in Other Species
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Descriptions from all associated GenBank mRNAs
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Biochemical and Signaling Pathways
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Other Names for This Gene
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Gene Model Information
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Methods, Credits, and Use Restrictions
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