|
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
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GRIN2A
|
|
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
gptkb:NMDA_receptors
|
|
gptkbp:bfsLayer
|
7
|