GRIN2D (O15399) variants and mutations

GRIN2D (also known as O15399) is a human protein-coding gene encoding a glutamate receptor ionotropic, NMDA 2D protein. The GluN2D subunit of NMDA glutamate receptors, calcium-permeable channels involved in excitatory synaptic signaling. Variants can cause developmental and epileptic encephalopathy. This analysis covers 2,005 GRIN2D variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes developmental and epileptic encephalopathy, 46, Alzheimer disease, and Parkinson disease. Example GRIN2D variants include M1I, R2S, and R2G.

Variant analysis overview

Gene: GRIN2D
Protein: O15399
UniProt accession: O15399
Organism: Homo sapiens
Variants analyzed: 2005
Variant scope: all variants
Completed: 2026-10-09

Variant and mutation evidence

Variant composition: 1,593 unspecified-consequence records; 345 missense variants; 121 synonymous variants; 33 frameshift variants; 9 in-frame deletions; 2 in-frame insertions; 11 stop-gained variants; 2 substitution
Prediction scores: 1,966 variants have prediction scores (98% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: developmental and epileptic encephalopathy, 46, Alzheimer disease, Parkinson disease, major depressive disorder, Orthomyxoviridae infectious disease, infection, depressive disorder, alcohol dependence, dementia, secondary Parkinson disease, cerebral atherosclerosis, postencephalitic Parkinson disease.

Protein structure and variant hotspots

Protein features: 3 transmembrane segments; 6 binding sites; 8 post-translational modification sites.
Structural context: 47 variants have structural context.
PTM context: 11 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Diseases linked to GRIN2D

Notable GRIN2D variants

Examples include M1I, R2S, R2G, R2C, R2H, R2L, R2R, G3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

GRIN2D analysis run — GRIN2D (2,005 variants) — completed 2026-10-09