AlphaFold predicted structure
GRIN2A · Q12879

Mean pLDDT
60.8/ 100
Low
1,464 residues
Confidence breakdown
- Very high(≥ 90)19%
- Confident(70–90)29%
- Low(50–70)9%
- Very low(< 50)43%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
glutamate ionotropic receptor NMDA type subunit 2A
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLandau-Kleffner syndrome
Rolandic epilepsy
early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
major depressive disorder
Parkinson disease
self-limited epilepsy with centrotemporal spikes
Alzheimer disease
Seizure
depressive disorder
Cough
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Glutamate receptor ionotropic, NMDA 2A
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:20890276, PubMed:23933818, PubMed:23933819, PubMed:23933820, PubMed:24504326, PubMed:26875626, PubMed:26919761, PubMed:28242877, PubMed:36117210, PubMed:38538865, PubMed:8768735). NMDARs participate in synaptic plasticity for learning and memory formation by contributing to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning (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:23933818, PubMed:23933819, PubMed:23933820, PubMed:24504326, PubMed:26875626, PubMed:26919761, PubMed:27288002, PubMed:28095420, PubMed:28105280, PubMed:28126851, PubMed:28182669, PubMed:29644724, PubMed:38307912, PubMed:8768735). 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:26919761). Participates in the synaptic plasticity regulation through activation by the L-glutamate releaseed by BEST1, into the synaptic cleft, upon F2R/PAR-1 activation in astrocyte (By similarity)
Curated MONDO disease pages that list GRIN2A among their top associated genes.
GRIN2A · Q12879

Mean pLDDT
60.8/ 100
Low
1,464 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0