AlphaFold predicted structure
GABRA4 · P48169

Mean pLDDT
72.9/ 100
Confident
554 residues
Confidence breakdown
- Very high(≥ 90)48%
- Confident(70–90)13%
- Low(50–70)9%
- Very low(< 50)30%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
gamma-aminobutyric acid type A receptor subunit alpha4
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownepilepsy
migraine disorder
major depressive disorder
insomnia
panic disorder
Agitation
anxiety disorder
Anxiety
alcohol dependence
Seizure
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Gamma-aminobutyric acid receptor subunit alpha-4
Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:35355020). 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 interface(s) (PubMed:35355020). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:35355020). GABAARs containing alpha-4 are predominantly extrasynaptic, contributing to tonic inhibition in dentate granule cells and thalamic relay neurons (By similarity). Extrasynaptic alpha-4-containing GABAARs control levels of excitability and network activity (By similarity). GABAAR containing alpha-4-beta-3-delta subunits can simultaneously bind GABA and histamine where histamine binds at the interface of two neighboring beta subunits, which may be involved in the regulation of sleep and wakefulness (PubMed:35355020)
Curated MONDO disease pages that list GABRA4 among their top associated genes.
GABRA4 · P48169

Mean pLDDT
72.9/ 100
Confident
554 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0