GRIN2D

Chr 19

glutamate ionotropic receptor NMDA type subunit 2D

Also known as: DEE46, EB11, EIEE46, GluN2D, NMDAR2D, NR2D

NCBI Gene: 2906ENSG00000105464UniProt: O15399

N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). [provided by RefSeq, Mar 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 46

Clinical highlights

Gene-disease validity (ClinGen)
complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
32
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.17
LOEUF· LoF intol.
GOF*
Mechanism· G2P
📖
GeneReview available — GRIN2D
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.17LOEUF
pLI 1.000
Z-score 5.39
OE 0.05 (0.02–0.17)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
4.85Z-score
OE missense 0.44 (0.40–0.49)
266 obs / 600.2 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.05 (0.02–0.17)
0≤0.351.4
Missense OE?0.44 (0.40–0.49)
0≤0.61.4
Synonymous OE?0.84
0≤1.21.6
LoF obs/exp: 2 / 37.8Missense obs/exp: 266 / 600.2Syn Z: 2.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GRIN2D · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

VCEP specificationsGRIN DisordersPilot
Panel ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients