Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:NR2A
NMDAR2A Glutamate receptor, ionotropic, N-methyl D-aspartate 2A |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Landau-Kleffner_syndrome
gptkb:Rolandic_epilepsy epilepsy epilepsy-aphasia spectrum disorders |
| gptkbp:clinicalTrialPhase |
genetic testing available
|
| gptkbp:discoveredIn |
1992
|
| gptkbp:encodes |
Glutamate receptor ionotropic, NMDA 2A (NR2A)
|
| gptkbp:Entrez_Gene_ID |
2890
ENSG00000183454 |
| gptkbp:evolutionaryConservation |
highly conserved among vertebrates
|
| gptkbp:expressedIn |
brain
high in cortex and hippocampus |
| gptkbp:function |
synaptic transmission
learning and memory glutamate-gated ion channel activity |
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:4586
|
| gptkbp:inheritance |
autosomal dominant
de novo |
| gptkbp:interactsWith |
gptkb:GRIN1
gptkb:GRIN2B gptkb:DLG4 |
| gptkbp:length |
1464 amino acids
|
| gptkbp:locatedOnChromosome |
16p13.2
|
| gptkbp:molecularWeight |
164 kDa
|
| gptkbp:mutationAssociatedWith |
nonsense
missense neurodevelopmental disorders frameshift splice site |
| gptkbp:OMIM |
138253
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Grin2a
|
| gptkbp:partOf |
NMDA receptor complex
|
| gptkbp:pathway |
gptkb:long-term_potentiation
calcium signaling pathway neuroactive ligand-receptor interaction glutamatergic synapse |
| gptkbp:product |
NMDA receptor subunit epsilon-1
|
| gptkbp:regulates |
activity-dependent
|
| gptkbp:subcellularLocation |
postsynaptic membrane
|
| gptkbp:UniProtID |
Q12879
|
| gptkbp:bfsParent |
gptkb:NMDA_receptor
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
GRIN2A
|