Gene: GABRA2

Alternate names for this Gene: EIEE78

Gene 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4p12

Description of this Gene: gamma-aminobutyric acid type A receptor subunit alpha2

Type of Gene: protein-coding

rs147028191 in GABRA2 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs11943905 in GABRA2 gene and Epilepsy, Generalized PMID 30531953 2018 Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.

rs1025852 in GABRA2 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.