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GeneE
25 sources retrieved ยท Most recent: April 2026 ยท Index updated 14 days ago
โ“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
Chromosome 16 ยท 16p13.2
NCBI Gene: 2903Ensembl: ENSG00000183454.19HGNC: HGNC:4585UniProt: A0A890YTL4
287PubMed Papers
21Diseases
31Drugs
294Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneIon ChannelReceptorTransporter
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
โœ“ Experimental GO Evidenceโœ“ Swiss-Prot Reviewed
NMDA glutamate receptor activityresponse to ethanolsodium ion transmembrane transportplasma membraneLandau-Kleffner syndromeRolandic epilepsyearly-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationmajor depressive disorder
โœฆAI Summary

GRIN2A encodes the GluN2A subunit of N-methyl-D-aspartate (NMDA) receptors, heterotetrameric ligand-gated cation channels with high calcium permeability and voltage-dependent magnesium block 1. Channel activation requires L-glutamate binding to GluN2A, glycine/D-serine binding to GluN1, and membrane depolarization to relieve Mg2+ inhibition 2. GluN2A confers distinct kinetic properties including differential activation, deactivation, desensitization, pH sensitivity, and calcium permeability 3. NMDA receptors mediate synaptic plasticity underlying learning and memory through long-term potentiation 2. GRIN2A dysfunction is implicated in schizophrenia through both common and rare variants 45. Ultra-rare coding variants confer substantial schizophrenia risk (odds ratios 3-50), supporting glutamatergic system dysfunction in pathogenesis 4. Common variants concentrate in genes expressed in central nervous system neurons 5. Pathogenic GRIN2A variants cause developmental and epileptic encephalopathy with speech-language features 6. Transmembrane domain missense variants typically produce gain-of-function effects and severe phenotypes, while amino-terminal/ligand-binding domain variants and null mutations cause loss-of-function with milder phenotypes 6. L-serine treatment shows therapeutic promise for loss-of-function variants, improving adaptive behavior, motor function, and quality of life in children 7. GRIN2A variants demonstrate overlap with autism, epilepsy, and neurodevelopmental disorders, revealing convergence of common and rare variant pathways 4.

Sources cited
1
GRIN2A encodes NMDA receptor subunit with high calcium permeability and voltage-dependent Mg2+ block
PMID: 20890276
2
NMDA channel activation requires L-glutamate binding to GluN2A, co-agonist binding to GluN1, and membrane depolarization; participates in synaptic plasticity and long-term potentiation
PMID: 23933818
3
GluN2A subunit confers differential kinetic properties including activation, deactivation, desensitization, and calcium permeability
PMID: 26875626
4
Ultra-rare GRIN2A coding variants confer substantial schizophrenia risk (odds ratios 3-50); glutamatergic dysfunction supports schizophrenia pathogenesis
PMID: 35396579
5
GRIN2A identified as likely causal gene in genome-wide schizophrenia association study; expressed in excitatory and inhibitory CNS neurons
PMID: 35396580
6
GRIN2A mutations cause developmental encephalopathy with speech features and epilepsy; transmembrane domain variants cause gain-of-function with severe phenotypes; amino-terminal/ligand-binding domain variants and null mutations cause loss-of-function with milder phenotypes
PMID: 30544257
7
L-serine treatment improves adaptive behavior, motor function, and quality of life in children with GRIN2A loss-of-function variants
PMID: 38380699
8
GRIN2A variants associated with schizophrenia pathophysiology; rare and common variants both implicate NR2A NMDA receptor hypofunction
PMID: 37736757
Disease Associationsโ“˜21
Landau-Kleffner syndromeOpen Targets
0.84Strong
Rolandic epilepsyOpen Targets
0.72Strong
early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationOpen Targets
0.69Moderate
major depressive disorderOpen Targets
0.66Moderate
Parkinson diseaseOpen Targets
0.62Moderate
self-limited epilepsy with centrotemporal spikesOpen Targets
0.62Moderate
Alzheimer diseaseOpen Targets
0.62Moderate
schizophreniaOpen Targets
0.61Moderate
SeizureOpen Targets
0.61Moderate
CoughOpen Targets
0.60Moderate
epilepsyOpen Targets
0.60Moderate
Nasal congestionOpen Targets
0.60Moderate
common coldOpen Targets
0.60Moderate
HeadacheOpen Targets
0.60Moderate
infectionOpen Targets
0.60Moderate
seasonal allergic rhinitisOpen Targets
0.60Moderate
influenzaOpen Targets
0.60Moderate
FeverOpen Targets
0.60Moderate
pharyngitisOpen Targets
0.60Moderate
Rolandic epilepsy - speech dyspraxiaOpen Targets
0.60Moderate
Epilepsy, focal, with speech disorder and with or without impaired intellectual developmentUniProt
Pathogenic Variants294
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His)Pathogenic
Landau-Kleffner syndrome|not provided|Epilepsy
โ˜…โ˜…โ˜†โ˜†2026โ†’ Residue 518
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr)Pathogenic
Landau-Kleffner syndrome|not provided
โ˜…โ˜…โ˜†โ˜†2026โ†’ Residue 776
NM_001134407.3(GRIN2A):c.1007+1G>TPathogenic
Self-limited epilepsy with centrotemporal spikes|Landau-Kleffner syndrome|GRIN2A-Related Disorders
โ˜…โ˜…โ˜†โ˜†2025
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter)Pathogenic
Landau-Kleffner syndrome|not provided
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 681
NM_001134407.3(GRIN2A):c.1507C>T (p.Gln503Ter)Pathogenic
not provided|Landau-Kleffner syndrome|Neoplasm
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 503
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr)Pathogenic
Landau-Kleffner syndrome
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 817
NM_001134407.3(GRIN2A):c.1007+1G>APathogenic
Landau-Kleffner syndrome|Self-limited epilepsy with centrotemporal spikes|not provided|Abnormal cerebral morphology|Seizure
โ˜…โ˜…โ˜†โ˜†2025
NM_001134407.3(GRIN2A):c.2453C>T (p.Ala818Val)Pathogenic
Landau-Kleffner syndrome|not provided
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 818
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser)Pathogenic
Inborn genetic diseases|Landau-Kleffner syndrome|GRIN2A-related complex neurodevelopmental disorder
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 614
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met)Pathogenic
Landau-Kleffner syndrome|not provided|Seizure
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 531
NM_001134407.3(GRIN2A):c.1673G>C (p.Trp558Ser)Pathogenic
Landau-Kleffner syndrome|not provided
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 558
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val)Pathogenic
Landau-Kleffner syndrome
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 649
NM_001134407.3(GRIN2A):c.4021dup (p.Ser1341fs)Pathogenic
not provided|Landau-Kleffner syndrome
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 1341
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)Pathogenic
not provided|Landau-Kleffner syndrome|Inborn genetic diseases
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 716
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu)Pathogenic
Landau-Kleffner syndrome
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 818
NM_001134407.3(GRIN2A):c.1532C>T (p.Ser511Leu)Pathogenic
Landau-Kleffner syndrome|not provided
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 511
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn)Pathogenic
not provided|Landau-Kleffner syndrome|Seizure
โ˜…โ˜…โ˜†โ˜†2024โ†’ Residue 731
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg)Pathogenic
Self-limited epilepsy with centrotemporal spikes|not provided|Landau-Kleffner syndrome
โ˜…โ˜…โ˜†โ˜†2024โ†’ Residue 436
NM_001134407.3(GRIN2A):c.2168+1G>CPathogenic
Landau-Kleffner syndrome|Epilepsy
โ˜…โ˜…โ˜†โ˜†2024
NM_001134407.3(GRIN2A):c.742_748del (p.Leu248fs)Pathogenic
not provided|Landau-Kleffner syndrome
โ˜…โ˜…โ˜†โ˜†2024โ†’ Residue 248
View on ClinVar โ†—
Drug Targets31
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
DEXTROMETHORPHANApproved
Sigma opioid receptor agonist
Cough
DEXTROMETHORPHAN HYDROBROMIDEApproved
Sigma opioid receptor agonist
common cold
DEXTROMETHORPHAN POLISTIREXApproved
Sigma opioid receptor agonist
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
DLG2Protein interaction100%DLG3Protein interaction100%DLG4Protein interaction100%P2RX3Protein interaction99%P2RX1Protein interaction98%GRID2Protein interaction98%
Tissue Expression6 tissues
Brain
100%
Heart
25%
Bone Marrow
1%
Ovary
1%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
GRIN2ADLG2DLG3DLG4P2RX3P2RX1GRID2
PROTEIN STRUCTURE
Preparing viewerโ€ฆ
PDB5H8F ยท 1.81 ร… ยท X-ray
View on RCSB โ†—
Constraintโ“˜
LOEUFโ“˜
0.27Highly Constrained
pLIโ“˜
1.00Intolerant
Observed/Expected LoF0.18 [0.13โ€“0.27]
RankingsWhere GRIN2A stands among ~20K protein-coding genes
  • #1,246of 20,598
    Most Researched287 ยท top 10%
  • #93of 1,025
    FDA-Approved Drug Targets16 ยท top 10%
  • #211of 5,498
    Most Pathogenic Variants294 ยท top 5%
  • #898of 17,882
    Most Constrained (LOEUF)0.27 ยท top 10%
Genes detectedGRIN2A
Sources retrieved25 papers
Response timeโ€”
๐Ÿ“„ Sources
25โ–ผ
1
Mapping genomic loci implicates genes and synaptic biology in schizophrenia.
PMID: 35396580
Nature ยท 2022
1.00
2
Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment.
PMID: 28212175
Curr Opin Neurol ยท 2017
0.90
3
Rare coding variants in ten genes confer substantial risk for schizophrenia.
PMID: 35396579
Nature ยท 2022
0.80
4
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
PMID: 30544257
Brain ยท 2019
0.70
5
GRIN2A: one gene, many phenotypes.
PMID: 41876267
Trends Genet ยท 2026
0.64