GRIN2D
entrez
2906
canonical
uniprot
O15399
canonical
ensembl
ENSG00000105464
resolver
ensp
ENSP00000263269
resolver
ensp
ENSP00000581321
resolver
enst
ENST00000263269
resolver
enst
ENST00000911262
resolver
genesymbol
GRIN2D
resolver
genesymbol_syn
GluN2D
resolver
genesymbol_syn
NMDAR2D
resolver
hgnc
HGNC:4588
resolver
uniprot
Q59G17
resolver
uniprot_entry
NMDE4_HUMAN
resolver
uniprot_entry
Q59G17_HUMAN
resolver
amino_acid_sequence
MRGAGGPRGPRGPAKMLLLLALACASPFPEEAPGPGGAGGPGGGLGGARPLNVALVFSGPAYAAEAARLGPAVAAAVRSPGLDVRPVALVLNGSDPRSLVLQLCDLLSGLRVHGVVFEDDSRAPAVAPILDFLSAQTSLPIVAVHGGAALVLTPKEKGSTFLQLGSSTEQQLQVIFEVLEEYDWTSFVAVTTRAPGHRAFLSYIEVLTDGSLVGWEHRGALTLDPGAGEAVLSAQLRSVSAQIRLLFCAREEAEPVFRAAEEAGLTGSGYVWFMVGPQLAGGGGSGAPGEPPLLPGGAPLPAGLFAVRSAGWRDDLARRVAAGVAVVARGAQALLRDYGFLPELGHDCRAQNRTHRGESLHRYFMNITWDNRDYSFNEDGFLVNPSLVVISLTRDRTWEVVGSWEQQTLRLKYPLWSRYGRFLQPVDDTQHLTVATLEERPFVIVEPADPISGTCIRDSVPCRSQLNRTHSPPPDAPRPEKRCCKGFCIDILKRLAHTIGFSYDLYLVTNGKHGKKIDGVWNGMIGEVFYQRADMAIGSLTINEERSEIVDFSVPFVETGISVMVARSNGTVSPSAFLEPYSPAVWVMMFVMCLTVVAVTVFIFEYLSPVGYNRSLATGKRPGGSTFTIGKSIWLLWALVFNNSVPVENPRGTTSKIMVLVWAFFAVIFLASYTANLAAFMIQEEYVDTVSGLSDRKFQRPQEQYPPLKFGTVPNGSTEKNIRSNYPDMHSYMVRYNQPRVEEALTQLKAGKLDAFIYDAAVLNYMARKDEGCKLVTIGSGKVFATTGYGIALHKGSRWKRPIDLALLQFLGDDEIEMLERLWLSGICHNDKIEVMSSKLDIDNMAGVFYMLLVAMGLSLLVFAWEHLVYWRLRHCLGPTHRMDFLLAFSRGMYSCCSAEAAPPPAKPPPPPQPLPSPAYPAPRPAPGPAPFVPRERASVDRWRRTKGAGPPGGAGLADGFHRYYGPIEPQGLGLGLGEARAAPRGAAGRPLSPPAAQPPQKPPPSYFAIVRDKEPAEPPAGAFPGFPSPPAPPAAAATAVGPPLCRLAFEDESPPAPARWPRSDPESQPLLGPGAGGAGGTGGAGGGAPAAPPPCRAAPPPCPYLDLEPSPSDSEDSESLGGASLGGLEPWWFADFPYPYAERLGPPPGRYWSVDKLGGWRAGSWDYLPPRSGPAAWHCRHCASLELLPPPRHLSCSHDGLDGGWWAPPPPPWAAGPLPRRRARCGCPRSHPHRPRASHRTPAAAAPHHHRHRRAAGGWDLPPPAPTSRSLEDLSSCPRAAPARRLTGPSRHARRCPHAAHWGPPLPTASHRRHRGGDLGTRRGSAHFSSLESEV
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 46 (DEE46) [MIM:617162]: 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. {ECO:0000269|PubMed:27616483}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:26875626, PubMed:27616483, PubMed:28126851, PubMed:9489750). Participates in synaptic plasticity for learning and memory formation (By similarity). Channel activation requires binding of the neurotransmitter L-glutamate to the GluN2 subunit, glycine or D-serine binding to the GluN1 subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:26875626, PubMed:27616483, PubMed:28126851, PubMed:9489750). NMDARs mediate simultaneously the potassium efflux and the influx of calcium and sodium (By similarity). Each GluN2 subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, Ca2(+) permeability, and binding to allosteric modulators (PubMed:26875626, PubMed:28095420, PubMed:28126851, PubMed:9489750). {ECO:0000250|UniProtKB:P35438, ECO:0000250|UniProtKB:Q14957, ECO:0000269|PubMed:26875626, ECO:0000269|PubMed:27616483, ECO:0000269|PubMed:28095420, ECO:0000269|PubMed:28126851, ECO:0000269|PubMed:9489750}.
uniprot
proteins
mass_dalton
143752
uniprot
proteins
mutagenesis
MUTAGEN 580; /note="P->R: Changed glutamate-gated calcium ion channel activity characterized by increased glutamate and glycine potency."; /evidence="ECO:0000269|PubMed:28095420"; MUTAGEN 845; /note="M->V: Increased glutamate and glycine agonist potency."; /evidence="ECO:0000269|PubMed:28126851
uniprot
proteins
protein_family
Glutamate-gated ion channel (TC 1.A.10.1) family
uniprot
proteins
protein_family
NR2D/GRIN2D subfamily
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
22833210
uniprot
proteins
pubmed
26875626
uniprot
proteins
pubmed
27616483
uniprot
proteins
pubmed
28095420
uniprot
proteins
pubmed
28126851
uniprot
proteins
pubmed
36959261
uniprot
proteins
pubmed
9489750
uniprot
proteins
sequence_length
1336
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26875626, ECO:0000269|PubMed:28126851, ECO:0000269|PubMed:9489750}; Multi-pass membrane protein. Postsynaptic cell membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 583..604; /note="Helical"; /evidence="ECO:0000269|PubMed:36959261"; TRANSMEM 654..674; /note="Helical"; /evidence="ECO:0000269|PubMed:36959261"; TRANSMEM 844..867; /note="Helical"; /evidence="ECO:0000269|PubMed:36959261
uniprot
proteins