GABRA2
entrez
2555
canonical
uniprot
P47869
canonical
ensembl
ENSG00000151834
resolver
ensp
ENSP00000348897
resolver
ensp
ENSP00000371033
resolver
ensp
ENSP00000421300
resolver
ensp
ENSP00000423840
resolver
ensp
ENSP00000427603
resolver
ensp
ENSP00000444409
resolver
ensp
ENSP00000533622
resolver
ensp
ENSP00000533623
resolver
ensp
ENSP00000533627
resolver
ensp
ENSP00000630151
resolver
enst
ENST00000507069
resolver
enst
ENST00000515082
resolver
genesymbol
GABRA2
resolver
hgnc
HGNC:4076
resolver
uniprot
A0A0S2Z3G0
resolver
uniprot
A8K0U7
resolver
uniprot
B7Z1H8
resolver
uniprot
E9PBQ7
resolver
uniprot
G5E9Z6
resolver
uniprot
Q59G14
resolver
uniprot_entry
A0A0S2Z3G0_HUMAN
resolver
uniprot_entry
E9PBQ7_HUMAN
resolver
uniprot_entry
G5E9Z6_HUMAN
resolver
uniprot_entry
GBRA2_HUMAN
resolver
uniprot_sec
A8K0U7
resolver
uniprot_sec
B7Z1H8
resolver
uniprot_sec
Q59G14
resolver
activity_regulation
ACTIVITY REGULATION: Activated by pentobarbital (By similarity). Inhibited by the antagonist bicuculline (By similarity). {ECO:0000250|UniProtKB:P10063}.
uniprot
proteins
amino_acid_sequence
MKTKLNIYNMQFLLFVFLVWDPARLVLANIQEDEAKNNITIFTRILDRLLDGYDNRLRPGLGDSITEVFTNIYVTSFGPVSDTDMEYTIDVFFRQKWKDERLKFKGPMNILRLNNLMASKIWTPDTFFHNGKKSVAHNMTMPNKLLRIQDDGTLLYTMRLTVQAECPMHLEDFPMDAHSCPLKFGSYAYTTSEVTYIWTYNASDSVQVAPDGSRLNQYDLLGQSIGKETIKSSTGEYTVMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKSVVNDKKKEKASVMIQNNAYAVAVANYAPNLSKDPVLSTISKSATTPEPNKKPENKPAEAKKTFNSVSKIDRMSRIVFPVLFGTFNLVYWATYLNREPVLGVSP
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 78 (DEE78) [MIM:618557]: A form of epileptic encephalopathy, a heterogeneous group of severe early-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. DEE78 is an autosomal dominant form characterized by onset of refractory seizures in the first days or months of life. Clinical features include severe developmental delay, hypotonia, microcephaly, cortical visual impairment and profound intellectual disability. Some patients manifest a less severe phenotype characterized by pharmacoresponsive epilepsy, autism spectrum disorder and moderate intellectual disability. {ECO:0000269|PubMed:29422393, ECO:0000269|PubMed:29961870, ECO:0000269|PubMed:31032849}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:P10063, ECO:0000250|UniProtKB:P14867, ECO:0000250|UniProtKB:P26048, ECO:0000269|PubMed:10449790, ECO:0000269|PubMed:29961870, ECO:0000269|PubMed:31032849}.
uniprot
proteins
mass_dalton
51326
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000250|UniProtKB:P26048}.
uniprot
proteins
protein_family
GABRA2 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
10449790
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15024690
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
29422393
uniprot
proteins
pubmed
29961870
uniprot
proteins
pubmed
31032849
uniprot
proteins
pubmed
8391122
uniprot
proteins
sequence_length
451
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynaptic cell membrane {ECO:0000250|UniProtKB:P26048}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000250|UniProtKB:P26048}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:P23576}. Cell projection, dendrite {ECO:0000250|UniProtKB:P26048}.
uniprot
proteins
transmembrane_region
TRANSMEM 250..270; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 281..300; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 312..332; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 421..441; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins