Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:NR2D
N-methyl-D-aspartate receptor subunit epsilon-4 |
| gptkbp:associatedWith |
gptkb:NMDA_receptor
neurodevelopmental disorders |
| gptkbp:encodes |
Glutamate receptor ionotropic, NMDA 2D subunit
|
| gptkbp:Entrez_Gene_ID |
2904
ENSG00000166736 |
| gptkbp:expressedIn |
brain
|
| gptkbp:function |
synaptic transmission
glutamate-gated ion channel activity |
| gptkbp:HGNC_ID |
4587
|
| https://www.w3.org/2000/01/rdf-schema#label |
GRIN2D
|
| gptkbp:locatedOnChromosome |
19q13.33
|
| gptkbp:mutationAssociatedWith |
intellectual disability
Epilepsy |
| gptkbp:OMIM |
138297
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Grin2d
|
| gptkbp:product |
NR2D subunit
|
| gptkbp:UniProtID |
Q14957
|
| gptkbp:bfsParent |
gptkb:NMDA_receptor
gptkb:NMDA_receptors |
| gptkbp:bfsLayer |
7
|