GLRA2
entrez
2742
canonical
uniprot
P23416
canonical
ensembl
ENSG00000101958
resolver
ensp
ENSP00000218075
resolver
ensp
ENSP00000347123
resolver
genesymbol
GLRA2
resolver
hgnc
HGNC:4327
resolver
uniprot
A8K0J6
resolver
uniprot
B2R6I8
resolver
uniprot
B7Z4F5
resolver
uniprot
J3KQ59
resolver
uniprot
Q53YX7
resolver
uniprot
Q6ICQ0
resolver
uniprot
Q99862
resolver
uniprot_entry
GLRA2_HUMAN
resolver
uniprot_sec
A8K0J6
resolver
uniprot_sec
B2R6I8
resolver
uniprot_sec
B7Z4F5
resolver
uniprot_sec
J3KQ59
resolver
uniprot_sec
Q53YX7
resolver
uniprot_sec
Q6ICQ0
resolver
uniprot_sec
Q99862
resolver
activity_regulation
ACTIVITY REGULATION: Channel opening is triggered by extracellular glycine (PubMed:15302677, PubMed:16144831, PubMed:2155780, PubMed:23895467, PubMed:34473954). Channel opening is also triggered by taurine and beta-alanine (PubMed:15302677). Inhibited by strychnine (PubMed:15302677, PubMed:2155780, PubMed:34473954). Inhibited by picrotoxin (PubMed:15302677). Channel activity is potentiated by 10-100 uM Zn(2+) (PubMed:15302677, PubMed:16144831, PubMed:23895467). Channel activity is marginally increased by 50 mM ethanol; it is strongly increased by a combination of 0.5 uM Zn(2+) and 50 mM ethanol (PubMed:23895467). Channel activity is inhibited by 100-1000 uM Zn(2+) (PubMed:15302677). {ECO:0000269|PubMed:15302677, ECO:0000269|PubMed:16144831, ECO:0000269|PubMed:2155780, ECO:0000269|PubMed:23895467, ECO:0000269|PubMed:34473954}.
uniprot
proteins
amino_acid_sequence
MNRQLVNILTALFAFFLETNHFRTAFCKDHDSRSGKQPSQTLSPSDFLDKLMGRTSGYDARIRPNFKGPPVNVTCNIFINSFGSVTETTMDYRVNIFLRQQWNDSRLAYSEYPDDSLDLDPSMLDSIWKPDLFFANEKGANFHDVTTDNKLLRISKNGKVLYSIRLTLTLSCPMDLKNFPMDVQTCTMQLESFGYTMNDLIFEWLSDGPVQVAEGLTLPQFILKEEKELGYCTKHYNTGKFTCIEVKFHLERQMGYYLIQMYIPSLLIVILSWVSFWINMDAAPARVALGITTVLTMTTQSSGSRASLPKVSYVKAIDIWMAVCLLFVFAALLEYAAVNFVSRQHKEFLRLRRRQKRQNKEEDVTRESRFNFSGYGMGHCLQVKDGTAVKATPANPLPQPPKDGDAIKKKFVDRAKRIDTISRAAFPLAFLIFNIFYWITYKIIRHEDVHKK
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked, syndromic, Pilorge type (MRXSP) [MIM:301076]: A disorder characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities. Variable features include motor incoordination, seizures, and ocular abnormalities. Disease onset is in infancy, and severity is highly variable. {ECO:0000269|PubMed:20479760, ECO:0000269|PubMed:26370147, ECO:0000269|PubMed:28588452, ECO:0000269|PubMed:35294868}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Subunit of heteromeric glycine-gated chloride channels (PubMed:15302677, PubMed:16144831, PubMed:2155780, PubMed:23895467, PubMed:25445488, PubMed:26370147, PubMed:34473954). Plays a role in synaptic plasticity (By similarity). Contributes to the generation of inhibitory postsynaptic currents, and is involved in the down-regulation of neuronal excitability (PubMed:25445488). Plays a role in cellular responses to ethanol (PubMed:23895467). {ECO:0000250|UniProtKB:Q7TNC8, ECO:0000269|PubMed:15302677, ECO:0000269|PubMed:16144831, ECO:0000269|PubMed:2155780, ECO:0000269|PubMed:23895467, ECO:0000269|PubMed:25445488, ECO:0000269|PubMed:34473954}.
uniprot
proteins
mass_dalton
52002
uniprot
proteins
mutagenesis
MUTAGEN 350; /note="R->A,K,I: No effect on the kinetics of inhibitory post-synaptic currents."; /evidence="ECO:0000269|PubMed:28588452
uniprot
proteins
protein_family
GLRA2 sub-subfamily
uniprot
proteins
protein_family
Glycine receptor (TC 1.A.9.3) subfamily
uniprot
proteins
protein_family
Ligand-gated ion channel (TC 1.A.9) family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15302677
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16144831
uniprot
proteins
pubmed
20479760
uniprot
proteins
pubmed
2155780
uniprot
proteins
pubmed
23895467
uniprot
proteins
pubmed
25445488
uniprot
proteins
pubmed
26370147
uniprot
proteins
pubmed
28588452
uniprot
proteins
pubmed
34473954
uniprot
proteins
pubmed
35294868
uniprot
proteins
pubmed
8973915
uniprot
proteins
pubmed
9674912
uniprot
proteins
sequence_length
452
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynaptic cell membrane {ECO:0000250|UniProtKB:Q7TNC8}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P23415}. Synapse {ECO:0000250|UniProtKB:Q7TNC8}. Cell membrane {ECO:0000269|PubMed:15302677, ECO:0000269|PubMed:16144831, ECO:0000269|PubMed:2155780, ECO:0000269|PubMed:23895467, ECO:0000269|PubMed:25445488, ECO:0000269|PubMed:26370147}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P23415}. Cell projection {ECO:0000250|UniProtKB:Q7TNC8}.
uniprot
proteins
transmembrane_region
TRANSMEM 257..278; /note="Helical; Name=1"; /evidence="ECO:0000250|UniProtKB:P23415"; TRANSMEM 284..304; /note="Helical; Name=2"; /evidence="ECO:0000250|UniProtKB:P23415"; TRANSMEM 316..336; /note="Helical; Name=3"; /evidence="ECO:0000250|UniProtKB:P23415"; TRANSMEM 421..441; /note="Helical; Name=4"; /evidence="ECO:0000250|UniProtKB:P23415
uniprot
proteins