gamma-aminobutyric acid type A receptor subunit alpha2
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownalcohol dependence
genetic developmental and epileptic encephalopathy
Seizure
epilepsy
major depressive disorder
insomnia
migraine disorder
anxiety disorder
panic disorder
Agitation
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Gamma-aminobutyric acid receptor subunit alpha-2
Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:10449790, PubMed:29961870, PubMed:31032849). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interfaces (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:10449790). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission (By similarity). The alpha-2 subunit exhibits synaptogenic activity together with beta-2 and very little to no activity together with beta-3, the gamma-2 subunit being necessary but not sufficient to induce rapid synaptic contacts formation (By similarity)
Curated MONDO disease pages that list GABRA2 among their top associated genes.
GABRA2 · P47869
Mean pLDDT
83.3/ 100
Confident
451 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
