AlphaFold predicted structure
GRIN2B · Q13224
Mean pLDDT
60.7/ 100
Low
1,484 residues
Confidence breakdown
- Very high(≥ 90)18%
- Confident(70–90)29%
- Low(50–70)9%
- Very low(< 50)44%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
GRIN2B
Chr 12p13.1glutamate ionotropic receptor NMDA type subunit 2B
- Aliases:
- GluN2B, NR2B
- MANE:
- ENST00000609686.4
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMalformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
intellectual disability, autosomal dominant 6
0.77developmental and epileptic encephalopathy, 27
0.74Alzheimer disease
0.63Parkinson disease
0.63complex neurodevelopmental disorder
0.62infantile spasms
0.61influenza
0.60infection
0.60major depressive disorder
0.60depressive disorder
0.60
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Glutamate receptor ionotropic, NMDA 2B
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:24272827, PubMed:24863970, PubMed:26875626, PubMed:26919761, PubMed:27839871, PubMed:28095420, PubMed:28126851, PubMed:38538865, PubMed:8768735). Participates in synaptic plasticity for learning and memory formation by contributing to the long-term depression (LTD) of hippocampus membrane currents (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:24272827, PubMed:24863970, PubMed:26875626, PubMed:26919761, PubMed:27839871, PubMed:28095420, PubMed:28126851, PubMed:38538865, 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:28095420, PubMed:28126851, PubMed:38538865, PubMed:8768735). In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death (By similarity)
Diseases associated with GRIN2B
Curated MONDO disease pages that list GRIN2B among their top associated genes.