GABRG2
entrez
2566
canonical
uniprot
P18507
canonical
ensembl
ENSG00000113327
resolver
ensp
ENSP00000349000
resolver
ensp
ENSP00000354651
resolver
ensp
ENSP00000410732
resolver
ensp
ENSP00000491763
resolver
ensp
ENSP00000491909
resolver
ensp
ENSP00000492096
resolver
ensp
ENSP00000492125
resolver
ensp
ENSP00000492293
resolver
ensp
ENSP00000492581
resolver
ensp
ENSP00000492869
resolver
ensp
ENSP00000613502
resolver
enst
ENST00000361925
resolver
enst
ENST00000638552
resolver
enst
ENST00000639683
resolver
enst
ENST00000639975
resolver
enst
ENST00000640985
resolver
genesymbol
GABRG2
resolver
hgnc
HGNC:4087
resolver
uniprot
A0A1W2PQ42
resolver
uniprot
A0A1W2PQR9
resolver
uniprot
A0A1W2PR49
resolver
uniprot
A0A1W2PRN4
resolver
uniprot
A0A1X7SBZ8
resolver
uniprot
A8MWU7
resolver
uniprot
B4DSA1
resolver
uniprot
C9JAR3
resolver
uniprot
F5HB82
resolver
uniprot
Q6GRL6
resolver
uniprot
Q6PCC3
resolver
uniprot
Q9UDB3
resolver
uniprot
Q9UN15
resolver
uniprot_entry
A0A1W2PQ42_HUMAN
resolver
uniprot_entry
A0A1W2PQR9_HUMAN
resolver
uniprot_entry
A0A1W2PR49_HUMAN
resolver
uniprot_entry
A0A1W2PRN4_HUMAN
resolver
uniprot_entry
A0A1X7SBZ8_HUMAN
resolver
uniprot_entry
A8MWU7_HUMAN
resolver
uniprot_entry
GBRG2_HUMAN
resolver
uniprot_sec
B4DSA1
resolver
uniprot_sec
C9JAR3
resolver
uniprot_sec
F5HB82
resolver
uniprot_sec
Q6GRL6
resolver
uniprot_sec
Q6PCC3
resolver
uniprot_sec
Q9UDB3
resolver
uniprot_sec
Q9UN15
resolver
activity_regulation
ACTIVITY REGULATION: Allosterically activated by benzodiazepines (PubMed:16412217, PubMed:2538761, PubMed:29950725). Activated by pentobarbital (PubMed:16412217). Potentiated by etomidate, propofol, pregnanolone (PubMed:16412217). Inhibited by the antagonist bicuculline (PubMed:29950725). Inhibited by zinc ions (PubMed:27864268). Potentiated by histamine (By similarity). {ECO:0000250|UniProtKB:P22723, ECO:0000269|PubMed:16412217, ECO:0000269|PubMed:2538761, ECO:0000269|PubMed:27864268, ECO:0000269|PubMed:29950725}.
uniprot
proteins
amino_acid_sequence
MSSPNIWSTGSSVYSTPVFSQKMTVWILLLLSLYPGFTSQKSDDDYEDYASNKTWVLTPKVPEGDVTVILNNLLEGYDNKLRPDIGVKPTLIHTDMYVNSIGPVNAINMEYTIDIFFAQTWYDRRLKFNSTIKVLRLNSNMVGKIWIPDTFFRNSKKADAHWITTPNRMLRIWNDGRVLYTLRLTIDAECQLQLHNFPMDEHSCPLEFSSYGYPREEIVYQWKRSSVEVGDTRSWRLYQFSFVGLRNTTEVVKTTSGDYVVMSVYFDLSRRMGYFTIQTYIPCTLIVVLSWVSFWINKDAVPARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFSALVEYGTLHYFVSNRKPSKDKDKKKKNPLLRMFSFKAPTIDIRPRSATIQMNNATHLQERDEEYGYECLDGKDCASFFCCFEDCRTGAWRHGRIHIRIAKMDSYARIFFPTAFCLFNLVYWVSYLYL
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 74 (DEE74) [MIM:618396]: 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. DEE74 is an autosomal dominant form with onset in the first year of life. {ECO:0000269|PubMed:27864268}. Note=The gene represented in this entry is involved in disease pathogenesis.; DISEASE: Epilepsy, childhood absence 2 (ECA2) [MIM:607681]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Some individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood. {ECO:0000269|PubMed:11326275}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Febrile seizures, familial, 8 (FEB8) [MIM:607681]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. {ECO:0000269|PubMed:16924025}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Generalized epilepsy with febrile seizures plus 3 (GEFSP3) [MIM:607681]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269|PubMed:11326274, ECO:0000269|PubMed:23708187}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:16412217, PubMed:23909897, PubMed:2538761, PubMed:25489750, PubMed:27864268, PubMed:29950725, 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:29950725, PubMed:30602789). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:14993607, PubMed:16412217, PubMed:2538761, PubMed:27864268, PubMed:29950725, PubMed:30602789). Gamma-2/GABRG2-containing GABAARs are found at both synaptic and extrasynaptic sites (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 gamma-2-containing receptors contribute to the tonic GABAergic inhibition (By similarity). GABAARs function also as histamine receptor where histamine binds at the interface of two neighboring beta subunits and potentiates GABA response in a gamma-2 subunit-controlled manner (By similarity). {ECO:0000250|UniProtKB:P08219, ECO:0000250|UniProtKB:P18508, ECO:0000250|UniProtKB:P22723, ECO:0000269|PubMed:14993607, ECO:0000269|PubMed:16412217, ECO:0000269|PubMed:23909897, ECO:0000269|PubMed:2538761, ECO:0000269|PubMed:25489750, ECO:0000269|PubMed:27864268, ECO:0000269|PubMed:29950725, ECO:0000269|PubMed:30602789}.
uniprot
proteins
mass_dalton
55186
uniprot
proteins
post_translational_modification
PTM: Palmitoylated by ZDHHC3/GODZ; required for the accumulation of GABA(A) receptors at the postsynaptic membrane of inhibitory GABAergic synapses. {ECO:0000250|UniProtKB:P22723}.
uniprot
proteins
protein_family
GABRG2 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
11326274
uniprot
proteins
pubmed
11326275
uniprot
proteins
pubmed
11328646
uniprot
proteins
pubmed
14993607
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16412217
uniprot
proteins
pubmed
16924025
uniprot
proteins
pubmed
20485450
uniprot
proteins
pubmed
21714819
uniprot
proteins
pubmed
23708187
uniprot
proteins
pubmed
23909897
uniprot
proteins
pubmed
2538761
uniprot
proteins
pubmed
25489750
uniprot
proteins
pubmed
27864268
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
29950725
uniprot
proteins
pubmed
30602789
uniprot
proteins
pubmed
8382267
uniprot
proteins
pubmed
9892355
uniprot
proteins
sequence_length
475
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynaptic cell membrane {ECO:0000269|PubMed:2538761}; Multi-pass membrane protein {ECO:0000269|PubMed:30602789, ECO:0007744|PDB:6I53}. Cell membrane {ECO:0000269|PubMed:2538761, ECO:0000269|PubMed:27864268}; Multi-pass membrane protein {ECO:0000269|PubMed:30602789, ECO:0007744|PDB:6I53}. Cell projection, dendrite {ECO:0000250|UniProtKB:P22723}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:P18508}.
uniprot
proteins
transmembrane_region
TRANSMEM 276..296; /note="Helical"; /evidence="ECO:0000269|PubMed:30602789, ECO:0007744|PDB:6I53"; TRANSMEM 303..322; /note="Helical"; /evidence="ECO:0000269|PubMed:30602789, ECO:0007744|PDB:6I53"; TRANSMEM 335..359; /note="Helical"; /evidence="ECO:0000269|PubMed:30602789, ECO:0007744|PDB:6I53"; TRANSMEM 452..472; /note="Helical"; /evidence="ECO:0000269|PubMed:30602789, ECO:0007744|PDB:6I53
uniprot
proteins