GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2
Gene ID: 2555, updated on 2-Nov-2024Gene type: protein coding
Also known as: DEE78; EIEE78
- See all available tests in GTR for this gene
- Go to complete Gene record for GABRA2
- Go to Variation Viewer for GABRA2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Alcohol dependence | See labs |
| Developmental and epileptic encephalopathy, 78 | See labs |
| Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. GeneReviews: Not available |
Genomic context
- Location:
- 4p12
- Sequence:
- Chromosome: 4; NC_000004.12 (46243548..46390300, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GABRA2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GABRA2 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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