GABRB2
entrez
2561
canonical
uniprot
P47870
canonical
ensembl
ENSG00000145864
resolver
ensp
ENSP00000274546
resolver
ensp
ENSP00000274547
resolver
ensp
ENSP00000377531
resolver
genesymbol
GABRB2
resolver
hgnc
HGNC:4082
resolver
uniprot
A8K115
resolver
uniprot
A8K1A0
resolver
uniprot
D1LYT0
resolver
uniprot
D1LYT1
resolver
uniprot
Q16323
resolver
uniprot
Q4FZB2
resolver
uniprot_entry
GBRB2_HUMAN
resolver
uniprot_sec
A8K115
resolver
uniprot_sec
A8K1A0
resolver
uniprot_sec
D1LYT0
resolver
uniprot_sec
D1LYT1
resolver
uniprot_sec
Q16323
resolver
uniprot_sec
Q4FZB2
resolver
activity_regulation
ACTIVITY REGULATION: Allosterically activated by benzodiazepines (PubMed:29950725). Allosterically activated by the anesthetic etomidate (By similarity). Inhibited by the antagonist bicuculline (PubMed:29950725). Potentiated by histamine (By similarity). {ECO:0000250|UniProtKB:P0C2W5, ECO:0000250|UniProtKB:P63138, ECO:0000269|PubMed:29950725}.
uniprot
proteins
amino_acid_sequence
MWRVRKRGYFGIWSFPLIIAAVCAQSVNDPSNMSLVKETVDRLLKGYDIRLRPDFGGPPVAVGMNIDIASIDMVSEVNMDYTLTMYFQQAWRDKRLSYNVIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGDDNAVTGVTKIELPQFSIVDYKLITKKVVFSTGSYPRLSLSFKLKRNIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFMALLEYALVNYIFFGRGPQRQKKAAEKAASANNEKMRLDVNKIFYKDIKQNGTQYRSLWDPTGNLSPTRRTTNYDFSLYTMDPHENILLSTLEIKNEMATSEAVMGLGDPRSTMLAYDASSIQYRKAGLPRHSFGRNALERHVAQKKSRLRRRASQLKITIPDLTDVNAIDRWSRIFFPVVFSFFNIVYWLYYVN
uniprot
proteins
disease_involvement
DISEASE: Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE2 is an autosomal dominant condition with variable age at seizure onset, ranging from early infancy to 6 years. {ECO:0000269|PubMed:25124326, ECO:0000269|PubMed:27789573, ECO:0000269|PubMed:29100083}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:19763268, PubMed:27789573, PubMed:29950725, PubMed:8264558). 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:29950725). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (By similarity). 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). GABAARs containing alpha-1 and beta-2 or -3 subunits exhibit synaptogenic activity; the gamma-2 subunit being necessary but not sufficient to induce rapid synaptic contacts formation (PubMed:23909897, PubMed:25489750). Extrasynaptic beta-2 receptors contribute to the tonic GABAergic inhibition (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 (By similarity). {ECO:0000250|UniProtKB:P08219, ECO:0000250|UniProtKB:P63138, ECO:0000269|PubMed:19763268, ECO:0000269|PubMed:23909897, ECO:0000269|PubMed:25489750, ECO:0000269|PubMed:27789573, ECO:0000269|PubMed:29950725, ECO:0000269|PubMed:8264558}.
uniprot
proteins
mass_dalton
59150
uniprot
proteins
mutagenesis
MUTAGEN 389; /note="T->A: Displays reduced current rundown following repeated receptor activation."; /evidence="ECO:0000269|PubMed:19763268
uniprot
proteins
protein_family
GABRB2 sub-subfamily
uniprot
proteins
protein_family
Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily
uniprot
proteins
protein_family
Ligand-gated ion channel (TC 1.A.9) family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16983389
uniprot
proteins
pubmed
19763268
uniprot
proteins
pubmed
23909897
uniprot
proteins
pubmed
25124326
uniprot
proteins
pubmed
25489750
uniprot
proteins
pubmed
27789573
uniprot
proteins
pubmed
29100083
uniprot
proteins
pubmed
29950725
uniprot
proteins
pubmed
7707873
uniprot
proteins
pubmed
8264558
uniprot
proteins
sequence_length
512
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynaptic cell membrane {ECO:0000250|UniProtKB:P63138}; Multi-pass membrane protein {ECO:0000269|PubMed:29950725}. Cell membrane {ECO:0000269|PubMed:19763268, ECO:0000269|PubMed:8264558}; Multi-pass membrane protein {ECO:0000269|PubMed:29950725}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:P63138}.
uniprot
proteins
transmembrane_region
TRANSMEM 242..262; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 273..292; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 311..331; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 491..511; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins