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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GRIN2D
glutamate ionotropic receptor NMDA type subunit 2D
Chromosome 19 Β· 19q13.33
NCBI Gene: 2906Ensembl: ENSG00000105464.5HGNC: HGNC:4588UniProt: O15399
97PubMed Papers
21Diseases
28Drugs
15Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelReceptorTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
monoatomic cation transmembrane transportNMDA glutamate receptor activityplasma membraneglutamate-gated receptor activitydevelopmental and epileptic encephalopathy, 46Alzheimer diseaseParkinson diseaseinfluenza
✦AI Summary

GRIN2D encodes the GluN2D subunit of N-methyl-D-aspartate receptors (NMDARs), heterotetrameric ligand-gated cation channels with high calcium permeability and voltage-dependent magnesium block 1. Channel activation requires L-glutamate binding to GluN2D, glycine or D-serine binding to GluN1, plus membrane depolarization to relieve magnesium inhibition 1. GluN2D confers distinctive electrophysiological properties including unique activation/deactivation kinetics and pH sensitivity, contributing to learning, memory, and neuronal development 1. Pathogenic GRIN2D variants cause developmental and epileptic encephalopathy (DEE), a severe early-onset neurological disorder characterized by spontaneous seizures, motor deficits, and cognitive impairment 2. Notably, patients with GRIN2D-related DEE show refractoriness to conventional antiepileptic drugs, including ketamine, necessitating alternative approaches such as perampanel and memantine 123. Gain-of-function mutations, particularly the recurrent de novo p.Val667Ile variant, represent potential precision medicine targets 4. Beyond neurology, GRIN2D expression in pancreatic cancer and gastric cancer cells mediates glutamate-driven proliferation and metabolic reprogramming through calcium signaling, suggesting broader disease relevance 56.

Sources cited
1
GluN2D subunit structure, function in NMDARs, unique electrophysiological properties, and association with developmental and epileptic encephalopathy
PMID: 31918992
2
Mouse model demonstrates GRIN2D gain-of-function mutations cause seizures, motor deficits, and abnormal brain oscillations; limited response to ketamine but responsiveness to memantine and phenytoin
PMID: 40277233
3
GRIN2D gain-of-function mutations in epilepsy represent targets for precision medicine and stratified therapeutic approaches
PMID: 28212175
4
GRIN2D mutations in developmental and epileptic encephalopathy show drug resistance to conventional anticonvulsants; perampanel demonstrates therapeutic benefit
PMID: 36567197
5
GRIN2D expression in pancreatic cancer cells mediates glutamate-driven tumor growth through neuron-cancer pseudo-synaptic signaling
PMID: 41005304
6
GRIN2D promotes glycolysis and malignant behavior in gastric cancer through calcium signaling and metabolic reprogramming
PMID: 39546079
Disease Associationsβ“˜21
developmental and epileptic encephalopathy, 46Open Targets
0.75Strong
Alzheimer diseaseOpen Targets
0.61Moderate
Parkinson diseaseOpen Targets
0.60Moderate
influenzaOpen Targets
0.60Moderate
infectionOpen Targets
0.59Moderate
alcohol dependenceOpen Targets
0.59Moderate
major depressive disorderOpen Targets
0.59Moderate
dementiaOpen Targets
0.58Moderate
cerebral atherosclerosisOpen Targets
0.56Moderate
postencephalitic Parkinson diseaseOpen Targets
0.56Moderate
secondary Parkinson diseaseOpen Targets
0.56Moderate
genetic developmental and epileptic encephalopathyOpen Targets
0.55Moderate
epilepsyOpen Targets
0.53Moderate
depressive disorderOpen Targets
0.53Moderate
PainOpen Targets
0.53Moderate
TinnitusOpen Targets
0.40Moderate
SeizureOpen Targets
0.40Weak
schizophreniaOpen Targets
0.39Weak
cancerOpen Targets
0.39Weak
bipolar disorderOpen Targets
0.38Weak
Developmental and epileptic encephalopathy 46UniProt
Pathogenic Variants15
NM_000836.4(GRIN2D):c.2041A>G (p.Met681Val)Pathogenic
not provided|Developmental and epileptic encephalopathy, 46
β˜…β˜…β˜†β˜†2023β†’ Residue 681
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile)Pathogenic
Developmental and epileptic encephalopathy, 46
β˜…β˜…β˜†β˜†2022β†’ Residue 667
NM_000836.4(GRIN2D):c.2530A>C (p.Asn844His)Likely pathogenic
Developmental and epileptic encephalopathy, 46
β˜…β˜†β˜†β˜†2025β†’ Residue 844
NM_000836.4(GRIN2D):c.1762ATG[1] (p.Met589del)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 589
NM_000836.4(GRIN2D):c.2082T>A (p.Ser694Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 694
NM_000836.4(GRIN2D):c.2024C>A (p.Ala675Asp)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 675
NM_000836.4(GRIN2D):c.1997C>T (p.Ala666Val)Pathogenic
Developmental and epileptic encephalopathy, 46
β˜…β˜†β˜†β˜†2022β†’ Residue 666
NM_000836.4(GRIN2D):c.2330C>T (p.Thr777Ile)Likely pathogenic
Developmental and epileptic encephalopathy, 46
β˜…β˜†β˜†β˜†2022β†’ Residue 777
NM_000836.4(GRIN2D):c.2511C>A (p.Ser837Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 837
NM_000836.4(GRIN2D):c.2029C>G (p.Leu677Val)Likely pathogenic
Developmental and epileptic encephalopathy, 46
β˜…β˜†β˜†β˜†2020β†’ Residue 677
NM_000836.4(GRIN2D):c.2033C>A (p.Ala678Asp)Likely pathogenic
Developmental and epileptic encephalopathy, 46
β˜…β˜†β˜†β˜†2019β†’ Residue 678
NM_000836.4(GRIN2D):c.1718C>T (p.Ser573Phe)Pathogenic
Developmental and epileptic encephalopathy, 46
β˜…β˜†β˜†β˜†2019β†’ Residue 573
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn)Likely pathogenic
Developmental and epileptic encephalopathy, 46
β˜…β˜†β˜†β˜†2018β†’ Residue 449
NM_000836.4(GRIN2D):c.2043G>C (p.Met681Ile)Pathogenic
Developmental and epileptic encephalopathy, 46
β˜†β˜†β˜†β˜†2020β†’ Residue 681
NM_000836.4(GRIN2D):c.2080A>C (p.Ser694Arg)Pathogenic
Developmental and epileptic encephalopathy, 46
β˜†β˜†β˜†β˜†2020β†’ Residue 694
View on ClinVar β†—
Drug Targets28
ACAMPROSATEApproved
Glutamate [NMDA] receptor antagonist
alcohol dependence
ACAMPROSATE CALCIUMApproved
Glutamate [NMDA] receptor antagonist
alcohol dependence
AMANTADINEApproved
Matrix protein 2 inhibitor
influenza
AMANTADINE HYDROCHLORIDEApproved
Matrix protein 2 inhibitor
influenza
APIMOSTINELPhase II
Glutamate [NMDA] receptor partial agonist
major depressive disorder
AV-101Phase III
Glutamate [NMDA] receptor antagonist
pulmonary arterial hypertension
AZD8108Phase I
Glutamate [NMDA] receptor antagonist
CNS-5161Phase II
Glutamate [NMDA] receptor blocker
neuropathic pain
DELUCEMINEPhase I
Glutamate [NMDA] receptor antagonist
depressive disorder
ESKETAMINEApproved
Glutamate [NMDA] receptor negative allosteric modulator
major depressive disorder
ESKETAMINE HYDROCHLORIDEApproved
Glutamate [NMDA] receptor negative allosteric modulator
major depressive disorder
FELBAMATEApproved
Glutamate [NMDA] receptor antagonist
epilepsy
GW468816Phase II
Glutamate [NMDA] receptor antagonist
nicotine dependence
INDANTADOLPhase II
Glutamate [NMDA] receptor antagonist
neuropathic pain
KETAMINEApproved
Glutamate [NMDA] receptor negative allosteric modulator
KETAMINE HYDROCHLORIDEPhase III
Glutamate [NMDA] receptor negative allosteric modulator
cancer
LANICEMINEPhase II
Glutamate [NMDA] receptor blocker
major depressive disorder
MEMANTINEApproved
Glutamate [NMDA] receptor negative allosteric modulator
Alzheimer disease
MEMANTINE HYDROCHLORIDEApproved
Glutamate [NMDA] receptor negative allosteric modulator
Alzheimer disease
NEBOGLAMINEPhase II
Glutamate [NMDA] receptor positive allosteric modulator
cocaine dependence
NERAMEXANEPhase III
Neuronal acetylcholine receptor; alpha9/alpha10 antagonist
Alzheimer disease
NERAMEXANE MESYLATEPhase III
Neuronal acetylcholine receptor; alpha9/alpha10 antagonist
Tinnitus
ORPHENADRINEApproved
Glutamate [NMDA] receptor antagonist
Parkinson disease
ORPHENADRINE CITRATEApproved
Glutamate [NMDA] receptor antagonist
Pain
ORPHENADRINE HYDROCHLORIDEApproved
Histamine H1 receptor antagonist
Parkinson disease
PERZINFOTELPhase II
Glutamate [NMDA] receptor antagonist
diabetic neuropathy
RALFINAMIDEPhase III
Glutamate [NMDA] receptor antagonist
neuropathic pain
RAPASTINELPhase III
Glutamate [NMDA] receptor partial agonist
major depressive disorder
Related Genes
P2RX3Protein interaction99%P2RX1Protein interaction98%P2RX4Protein interaction98%P2RX6Protein interaction97%P2RX7Protein interaction95%NOS1Protein interaction95%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
31%
Lung
27%
Heart
22%
Ovary
22%
Liver
22%
Gene Interaction Network
Click a node to explore
GRIN2DP2RX3P2RX1P2RX4P2RX6P2RX7NOS1
PROTEIN STRUCTURE
Preparing viewer…
PDB9D37 Β· 3.34 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.64LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.48 [0.37–0.64]
RankingsWhere GRIN2D stands among ~20K protein-coding genes
  • #4,940of 20,598
    Most Researched97 Β· top quartile
  • #122of 1,025
    FDA-Approved Drug Targets13 Β· top quartile
  • #2,450of 5,498
    Most Pathogenic Variants15
  • #4,599of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedGRIN2D
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment.
PMID: 28212175
Curr Opin Neurol Β· 2017
1.00
2
Sensory neurons drive pancreatic cancer progression through glutamatergic neuron-cancer pseudo-synapses.
PMID: 41005304
Cancer Cell Β· 2025
0.90
3
Transgenerational transmission of aspartame-induced anxiety and changes in glutamate-GABA signaling and gene expression in the amygdala.
PMID: 36459641
Proc Natl Acad Sci U S A Β· 2022
0.80
4
PMID: 35914066
0.70
5
A mouse model of GRIN2D developmental and epileptic encephalopathy recapitulates the human disease.
PMID: 40277233
Brain Β· 2026
0.60