AlphaFold predicted structure
GABRB3 · P28472

Mean pLDDT
80.1/ 100
Confident
473 residues
Confidence breakdown
- Very high(≥ 90)62%
- Confident(70–90)12%
- Low(50–70)7%
- Very low(< 50)20%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
gamma-aminobutyric acid type A receptor subunit beta3
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknowndevelopmental and epileptic encephalopathy, 43
epilepsy
childhood absence epilepsy
Lennox-Gastaut syndrome
Seizure
insomnia
major depressive disorder
migraine disorder
panic disorder
Agitation
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Gamma-aminobutyric acid receptor subunit beta-3
Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:18514161, PubMed:22243422, PubMed:22303015, PubMed:24909990, PubMed:26950270, PubMed:30602789). 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:24909990, PubMed:30140029, PubMed:30602789). GABAARs containing beta-3/GABRB3 subunit are found at both synaptic and extrasynaptic sites (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:14993607, PubMed:22303015, PubMed:26950270, PubMed:30602789). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission (PubMed:22303015, PubMed:26950270). GABAARs containing alpha-1 and beta-3 subunits exhibit synaptogenic activity; the gamma-2 subunit being necessary but not sufficient to induce rapid synaptic contacts formation (PubMed:25489750). Extrasynaptic beta-3 receptors contribute to the tonic GABAergic inhibition (By similarity). GABAARs containing alpha-1, beta-3 and epsilon subunits may also permit spontaneous chloride channel activity while preserving the structural information required for GABA-gated openings (By similarity). Beta-containing GABAARs 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:18281286, PubMed:24909990, PubMed:35355020). Plays an important role in somatosensation and in the production of antinociception (By similarity)
Curated MONDO disease pages that list GABRB3 among their top associated genes.
GABRB3 · P28472

Mean pLDDT
80.1/ 100
Confident
473 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0