GABRA2 Chromosome 4
Gamma-aminobutyric acid type A receptor subunit alpha2
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What This Gene Does
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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
Gene Info
Gene Group
Gamma-aminobutyric acid type A receptor subunits
Locus Type
gene with protein product
Location
4p12
Ensembl
ENSG00000151834
Associated Conditions (7)
GABRA2-related disorder
Inborn genetic diseases
Developmental and epileptic encephalopathy
78
Alcohol dependence
Alcoholism
susceptibility to
Key Variants
RS1187844488
Conflicting classifications of pathogenicity
GABRA2-related disorder, GABRA2-related disorder
Health Risk
RS1200262867
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139362120
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1553895447
Conflicting classifications of pathogenicity
Health Risk
RS201337492
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2109351550
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 78, Developmental and epileptic encephalopathy
Health Risk
RS2109643293
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2475296530
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 78, Developmental and epileptic encephalopathy
Health Risk
RS2475627246
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 78, Developmental and epileptic encephalopathy
Health Risk
RS2475645750
Conflicting classifications of pathogenicity
Health Risk
RS748254534
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS767460850
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 78, Developmental and epileptic encephalopathy
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1187844488 | Health Risk | Conflicting classifications of pathogenicity | GABRA2-related disorder, GABRA2-related disorder |
| RS1200262867 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS139362120 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1553895447 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201337492 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2109351550 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 78, Developmental and epileptic encephalopathy |
| RS2109643293 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2475296530 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 78, Developmental and epileptic encephalopathy |
| RS2475627246 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 78, Developmental and epileptic encephalopathy |
| RS2475645750 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748254534 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767460850 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 78, Developmental and epileptic encephalopathy |
| RS905999861 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1577800481 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 78, Developmental and epileptic encephalopathy |
| RS2475296302 | Health Risk | Likely pathogenic | GABRA2-related disorder, GABRA2-related disorder |
| RS2476213850 | Health Risk | Likely pathogenic | — |
| RS952155068 | Health Risk | Likely pathogenic | — |
| RS1243977956 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 78, Developmental and epileptic encephalopathy |
| RS1281490675 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 78, Developmental and epileptic encephalopathy |
| RS1577975808 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 78, Developmental and epileptic encephalopathy |
| RS2109626303 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 78, Developmental and epileptic encephalopathy |
| RS2109351409 | Health Risk | Pathogenic/Likely pathogenic | Alcohol dependence, Developmental and epileptic encephalopathy, 78 |
| RS2475296327 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 78, Developmental and epileptic encephalopathy |
| RS2475626724 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS279836 | Health Risk | risk factor | Alcoholism, susceptibility to, Alcoholism |
| RS279845 | Health Risk | risk factor | Alcoholism, susceptibility to, Alcoholism |
| RS279871 | Health Risk | risk factor | Alcoholism, susceptibility to, Alcoholism |