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Aliases for GRIN2A Gene

Aliases for GRIN2A Gene

  • Glutamate Ionotropic Receptor NMDA Type Subunit 2A 2 3 5
  • Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2A 2 3
  • N-Methyl D-Aspartate Receptor Subtype 2A 3 4
  • NMDAR2A 3 4
  • GluN2A 3 4
  • NR2A 3 4
  • N-Methyl-D-Aspartate Receptor Channel, Subunit Epsilon-1 3
  • Glutamate [NMDA] Receptor Subunit Epsilon-1 4
  • N-Methyl-D-Aspartate Receptor Subunit 2A 3
  • Glutamate Receptor Ionotropic, NMDA 2A 3
  • HNR2A 4
  • EPND 3
  • FESD 3
  • LKS 3

External Ids for GRIN2A Gene

Previous HGNC Symbols for GRIN2A Gene


Previous GeneCards Identifiers for GRIN2A Gene

  • GC16M009658
  • GC16M009991
  • GC16M009822
  • GC16M009762

Summaries for GRIN2A Gene

Entrez Gene Summary for GRIN2A Gene

  • This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

GeneCards Summary for GRIN2A Gene

GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A) is a Protein Coding gene. Diseases associated with GRIN2A include Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation and Epilepsy-Aphasia Spectrum. Among its related pathways are Calcium signaling pathway and RET signaling. GO annotations related to this gene include calcium channel activity and ionotropic glutamate receptor activity. An important paralog of this gene is GRIN2B.

UniProtKB/Swiss-Prot for GRIN2A Gene

  • NMDA receptor subtype of glutamate-gated ion channels possesses high calcium permeability and voltage-dependent sensitivity to magnesium. Activation requires binding of agonist to both types of subunits.

Tocris Summary for GRIN2A Gene

  • NMDA receptors are members of the ionotropic class of glutamate receptors, which also includes Kainate and AMPA receptors. NMDA receptors consist of NR1 subunits combined with NR2 (A-D) or NR3 (A-B) subunits. The ligand-gated channel is permeable to cations.

Gene Wiki entry for GRIN2A Gene

Additional gene information for GRIN2A Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRIN2A Gene

Genomics for GRIN2A Gene

Regulatory Elements for GRIN2A Gene

Enhancers for GRIN2A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H010120 0.9 ENCODE dbSUPER 39.1 +61.4 61408 2.7 CTCF MAFG RAD21 ZNF316 MAFF ATF7 FOS MAFK EMSY GRIN2A LOC105371076 GC16M010114 GC16P010176
GH16H010180 1.1 Ensembl ENCODE 17.7 +1.2 1242 3.7 HDGF RB1 ZNF2 RAD21 ETS1 EGR1 SCRT2 ZNF143 IKZF2 EGR2 GRIN2A GC16P010176
GH16H010126 0.5 FANTOM5 ENCODE 33.8 +56.4 56375 1 GRIN2A ATF7IP2 GC16M010114 GC16P010176
GH16H010129 0.5 dbSUPER 32 +52.9 52855 2.5 ARNT PLRG1 ATF7 DPF2 ATF2 GRIN2A GC16M010114 GC16P010176
GH16H010256 1.2 Ensembl ENCODE 10 -74.1 -74109 2 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 SLC30A9 ZNF143 RUNX3 SP5 ENSG00000256013 GRIN2A LOC105371078 ATF7IP2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GRIN2A on UCSC Golden Path with GeneCards custom track

Genomic Locations for GRIN2A Gene

Genomic Locations for GRIN2A Gene
429,961 bases
Minus strand

Genomic View for GRIN2A Gene

Genes around GRIN2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRIN2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRIN2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRIN2A Gene

Proteins for GRIN2A Gene

  • Protein details for GRIN2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Glutamate receptor ionotropic, NMDA 2A
    Protein Accession:
    Secondary Accessions:
    • O00669
    • Q17RZ6

    Protein attributes for GRIN2A Gene

    1464 amino acids
    Molecular mass:
    165283 Da
    Quaternary structure:
    • Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B). Found in a complex with GRIN1 and GRIN3B. Found in a complex with GRIN1, GRIN3A and PPP2CB. Interacts with PDZ domains of AIP1, PATJ and DLG4. Interacts with HIP1 and NETO1 (By similarity). Interacts with LRFN2. Interacts with SNX27 (via PDZ domain); the interaction is required for recycling to the plasma membrane when endocytosed and prevent degradation in lysosomes (By similarity).

    Three dimensional structures from OCA and Proteopedia for GRIN2A Gene

    Alternative splice isoforms for GRIN2A Gene


neXtProt entry for GRIN2A Gene

Post-translational modifications for GRIN2A Gene

  • Glycosylation at posLast=7575, isoforms=2340, isoforms=2380, posLast=443443, isoforms=2444, and isoforms=2541
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for GRIN2A (GRIN2A/NMDAR2A)
  • Cell Signaling Technology (CST) Antibodies for GRIN2A (NMDAR2A)
  • Abcam antibodies for GRIN2A

No data available for DME Specific Peptides for GRIN2A Gene

Domains & Families for GRIN2A Gene

Gene Families for GRIN2A Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for GRIN2A Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2A/GRIN2A subfamily.
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2A/GRIN2A subfamily.
genes like me logo Genes that share domains with GRIN2A: view

Function for GRIN2A Gene

Molecular function for GRIN2A Gene

GENATLAS Biochemistry:
N-methyl D-aspartate receptor 2,epsilon 1 subunit glutamate receptor,expressed in hippocampal pyramidal cells and basal ganglia,involved in excitatory neurotransmission,in neuronal cell death and in the epileptic hyperexcitability of dysplastic cortical regions,playing a central role in verbal memory and cognitive function
UniProtKB/Swiss-Prot Function:
NMDA receptor subtype of glutamate-gated ion channels possesses high calcium permeability and voltage-dependent sensitivity to magnesium. Activation requires binding of agonist to both types of subunits.

Phenotypes From GWAS Catalog for GRIN2A Gene

Gene Ontology (GO) - Molecular Function for GRIN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IEA --
GO:0004970 ionotropic glutamate receptor activity IEA --
GO:0004972 NMDA glutamate receptor activity TAS,IEA --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005216 ion channel activity IEA --
genes like me logo Genes that share ontologies with GRIN2A: view
genes like me logo Genes that share phenotypes with GRIN2A: view

Human Phenotype Ontology for GRIN2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRIN2A Gene

MGI Knock Outs for GRIN2A:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GRIN2A Gene

Localization for GRIN2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRIN2A Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRIN2A gene
Compartment Confidence
plasma membrane 5
extracellular 3
endoplasmic reticulum 3
cytoskeleton 2
nucleus 2
mitochondrion 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GRIN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane TAS 8768735
GO:0008021 synaptic vesicle IEA --
GO:0009986 cell surface ISS --
genes like me logo Genes that share ontologies with GRIN2A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GRIN2A Gene

Pathways & Interactions for GRIN2A Gene

SuperPathways for GRIN2A Gene

SuperPathway Contained pathways
1 RET signaling
2 Post NMDA receptor activation events
3 Circadian entrainment
4 Transmission across Chemical Synapses
5 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
genes like me logo Genes that share pathways with GRIN2A: view

SIGNOR curated interactions for GRIN2A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GRIN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001964 startle response IEA --
GO:0001975 response to amphetamine IEA --
GO:0006810 transport IEA,TAS 8768735
GO:0006811 ion transport IEA --
genes like me logo Genes that share ontologies with GRIN2A: view

Drugs & Compounds for GRIN2A Gene

(146) Drugs for GRIN2A Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Felbamate Approved Pharma antagonist, Target 4
Memantine Approved, Investigational Pharma Channel blocker, antagonist, Target 184
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, antagonist, Target 243
Meperidine Approved Pharma Target, antagonist 66
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 236

(12) Additional Compounds for GRIN2A Gene - From: HMDB, IUPHAR, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Channel blocker
trifluoroacetic acid
  • Acide trifluoroacetique
  • Kyselina trifluoroctova
  • Perfluoroacetic acid
  • Trifluoracetic acid

(5) Tocris Compounds for GRIN2A Gene

Compound Action Cas Number
cis-ACPD Potent NMDA agonist. Also group II mGluR agonist 477331-06-9
HU 211 NMDA receptor antagonist; also NF-kappaB inhibitor 112924-45-5
Ibotenic acid Non-selective NMDA agonist 2552-55-8
Ifenprodil hemitartrate Non-competitive NMDA antagonist. Also sigma ligand 23210-56-2
L-Cysteinesulfinic acid NMDA and mGlu agonist 1115-65-7

(87) ApexBio Compounds for GRIN2A Gene

Compound Action Cas Number
(-)-Huperzine A NMDA receptor antagonist/AChE inhibitor 102518-79-6
(-)-MK 801 NMDA antagonist,potent and selective 121917-57-5
(+)-MK 801 Potent NMDA antagonist 70449-94-4
(+)-MK 801 Maleate Potent NMDA antagonist 77086-22-7
(±)-1-(1,2-Diphenylethyl)piperidine maleate 207461-99-2
(2R,3S)-Chlorpheg 140924-23-8
(R)-(+)-HA-966 123931-04-4
(R)-4-Carboxyphenylglycine 134052-68-9
(R)-CPP 126453-07-4
(RS)-(Tetrazol-5-yl)glycine 138199-51-6
(RS)-CPP 100828-16-8
(S)-(-)-HA-966 111821-58-0
(S)-(+)-Ketamine hydrochloride 33643-47-9
5,7-Dichlorokynurenic acid 131123-76-7
5,7-Dichlorokynurenic acid sodium salt 1184986-70-6
ACBC 22264-50-2
Arcaine sulfate 14923-17-2
CCMQ 132623-44-0
CGP 37849 127910-31-0
CGP 39551 127910-32-1
CGP 78608 hydrochloride 1135278-54-4
CGS 19755 110347-85-8
CIQ 486427-17-2
cis-ACPD 477331-06-9
Co 101244 hydrochloride 193356-17-1
Conantokin G 93438-65-4
Conantokin-R 202925-60-8
Conantokin-T 127476-26-0
D-AP5 79055-68-8
D-AP7 81338-23-0
D-CPP-ene 117414-74-1
DL-AP5 76326-31-3
DL-AP5 Sodium salt 1303993-72-7
DL-AP7 78966-69-5
DQP 1105 380560-89-4
Eliprodil 119431-25-3
Felbamate 25451-15-4
Felbamate hydrate 1177501-39-1
Flupirtine Analgesic agent 56995-20-1
Flupirtine maleate 75507-68-5
Gavestinel 153436-38-5
GLYX 13 117928-94-6
Homoquinolinic acid 490-75-5
HU 211 NMDA antagonist, novel and non-competitive 112924-45-5
Ibotenic acid 2552-55-8
Ifenprodil hemitartrate 23210-56-2
Ifenprodil Tartrate NMDA receptor antagonist 23210-58-4
Ketamine hydrochloride 1867-66-9
L-689,560 potent NMDA antagonist 139051-78-8
L-701,252 151057-13-5
L-701,324 142326-59-8
L-AP5 79055-67-7
L-Cysteinesulfinic acid 1115-65-7
LY 233053 125546-04-5
LY 235959 137433-06-8
MDL-29951 130798-51-5
Memantine hydrochloride NMDA receptor antagonist 41100-52-1
MK-801 (Dizocilpine) 77086-21-6
MNI-caged-D-aspartate 845555-94-4
MNI-caged-NMDA 1227675-52-6
N-(4-Hydroxyphenylacetyl)spermine 130210-32-1
N20C hydrochloride 1177583-87-7
NMDA (N-Methyl-D-aspartic acid) NMDA receptor agonist 6384-92-5
Norketamine hydrochloride 79499-59-5
PMPA (NMDA antagonist) 113919-36-1
PPDA 684283-16-7
PPPA 113190-92-4
QNZ 46 1237744-13-6
Quinolinic acid 89-00-9
Remacemide hydrochloride 111686-79-4
Ro 04-5595 hydrochloride 64047-73-0
Ro 25-6981 NMDA receptors blocker 169274-78-6
Ro 25-6981 Maleate NMDA receptor antagonist,potent and selective 1312991-76-6
Ro 8-4304 hydrochloride 1312991-77-7
SDZ 220-040 174575-40-7
SDZ 220-581 NMDA glutamate receptor subtype antagonist 174575-17-8
SDZ 220-581 Ammonium salt NMDA glutamate receptor antagonist 179411-94-0
SDZ 220-581 hydrochloride NMDA receptor antagonist 179411-93-9
Spermidine trihydrochloride 334-50-9
Spermine tetrahydrochloride 306-67-2
Synthalin sulfate 182285-12-7
TCN 201 852918-02-6
TCN 213 556803-08-8
TCN 237 dihydrochloride 700878-19-9
TCS 46b 302799-86-6
threo Ifenprodil hemitartrate 1312991-83-5
ZD 9379
genes like me logo Genes that share compounds with GRIN2A: view

Drug Products

Transcripts for GRIN2A Gene

Unigene Clusters for GRIN2A Gene

Glutamate receptor, ionotropic, N-methyl D-aspartate 2A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GRIN2A Gene

No ASD Table

Relevant External Links for GRIN2A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GRIN2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GRIN2A Gene

mRNA differential expression in normal tissues according to GTEx for GRIN2A Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x7.8), Brain - Cortex (x7.7), Brain - Anterior cingulate cortex (BA24) (x7.1), and Brain - Hippocampus (x4.6).

Protein differential expression in normal tissues from HIPED for GRIN2A Gene

This gene is overexpressed in Platelet (29.0), Fetal gut (20.9), and Plasma (14.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GRIN2A Gene

Protein tissue co-expression partners for GRIN2A Gene

NURSA nuclear receptor signaling pathways regulating expression of GRIN2A Gene:


SOURCE GeneReport for Unigene cluster for GRIN2A Gene:


Evidence on tissue expression from TISSUES for GRIN2A Gene

  • Nervous system(4.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GRIN2A Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with GRIN2A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for GRIN2A Gene

Orthologs for GRIN2A Gene

This gene was present in the common ancestor of animals.

Orthologs for GRIN2A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GRIN2A 33 34
  • 99.5 (n)
(Bos Taurus)
Mammalia GRIN2A 34
  • 93 (a)
(Canis familiaris)
Mammalia GRIN2A 33 34
  • 90.03 (n)
(Rattus norvegicus)
Mammalia Grin2a 33
  • 89.18 (n)
(Mus musculus)
Mammalia Grin2a 33 16 34
  • 88.84 (n)
(Monodelphis domestica)
Mammalia GRIN2A 34
  • 86 (a)
(Ornithorhynchus anatinus)
Mammalia GRIN2A 34
  • 84 (a)
(Gallus gallus)
Aves GRIN2A 33 34
  • 75.51 (n)
(Anolis carolinensis)
Reptilia GRIN2A 34
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia grin2a 33
  • 69.87 (n)
(Danio rerio)
Actinopterygii grin2aa 33 34
  • 69.51 (n)
grin2ab 34
  • 57 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nmdar2 35
  • 31 (a)
Species where no ortholog for GRIN2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GRIN2A Gene

Gene Tree for GRIN2A (if available)
Gene Tree for GRIN2A (if available)

Paralogs for GRIN2A Gene

Paralogs for GRIN2A Gene

(9) SIMAP similar genes for GRIN2A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GRIN2A: view

Variants for GRIN2A Gene

Sequence variations from dbSNP and Humsavar for GRIN2A Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs199528312 Uncertain significance, Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570] 9,938,097(+) CTCTC(A/G)CCTCC reference, missense
rs397514557 Pathogenic, Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570] 9,829,485(-) CCAAT(C/G)TGGCT reference, missense
rs397518447 Pathogenic, Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570] 9,829,585(-) AATAA(A/C)TCCGT reference, missense
rs397518450 Pathogenic, Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570] 9,834,227(-) AGAAC(C/G)ATTCA reference, missense
rs397518468 Pathogenic, Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570] 9,840,706(-) GGAAA(C/T)GGGAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GRIN2A Gene

Variant ID Type Subtype PubMed ID
nsv977899 CNV duplication 23825009
nsv9346 CNV gain 18304495
nsv9345 CNV gain 18304495
nsv833138 CNV loss 17160897
nsv571443 CNV loss 21841781
nsv525725 CNV loss 19592680
nsv518585 CNV loss 19592680
nsv513445 CNV insertion 21212237
nsv473221 CNV novel sequence insertion 20440878
nsv1131226 CNV deletion 24896259
nsv1131225 CNV deletion 24896259
nsv1115908 CNV deletion 24896259
nsv1113753 CNV deletion 24896259
nsv1112285 CNV deletion 24896259
nsv1070325 CNV deletion 25765185
nsv1069914 CNV deletion 25765185
nsv1050835 CNV loss 25217958
nsv1045882 CNV loss 25217958
nsv1043654 CNV gain 25217958
nsv1040428 CNV gain 25217958
esv3637888 CNV gain 21293372
esv3637887 CNV loss 21293372
esv3637886 CNV loss 21293372
esv3637884 CNV gain 21293372
esv3637881 CNV loss 21293372
esv3424707 CNV insertion 20981092
esv3345183 CNV insertion 20981092
esv3332949 CNV insertion 20981092
esv2758629 CNV gain+loss 17122850
esv2713954 CNV deletion 23290073
esv2672524 CNV deletion 23128226
esv2671380 CNV deletion 23128226
esv2435196 CNV insertion 19546169
esv2422500 CNV duplication 17116639
esv1747191 CNV deletion 17803354
esv1678363 CNV deletion 17803354
esv1005648 CNV loss 20482838
dgv2727n100 CNV gain 25217958

Variation tolerance for GRIN2A Gene

Residual Variation Intolerance Score: 1.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.38; 42.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRIN2A Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRIN2A Gene

Disorders for GRIN2A Gene

MalaCards: The human disease database

(28) MalaCards diseases for GRIN2A Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, focal, with speech disorder and with or without mental retardation
  • focal epilepsy with speech disorder with or without mental retardation
epilepsy-aphasia spectrum
  • acquired aphasia with epilepsy
moved to 245570
  • early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation
benign epilepsy with centrotemporal spikes
  • bcects
rolandic epilepsy-speech dyspraxia syndrome
- elite association - COSMIC cancer census association via MalaCards


  • Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]: A highly variable neurologic disorder with features ranging from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. The disorder encompasses several clinical entities, including Landau-Kleffner syndrome, epileptic encephalopathy with continuous spike and wave during slow-wave sleep, autosomal dominant rolandic epilepsy, mental retardation and speech dyspraxia, and benign epilepsy with centrotemporal spikes. {ECO:0000269 PubMed:20890276, ECO:0000269 PubMed:23033978, ECO:0000269 PubMed:23933818, ECO:0000269 PubMed:23933819, ECO:0000269 PubMed:23933820, ECO:0000269 PubMed:24504326, ECO:0000269 PubMed:24903190, ECO:0000269 PubMed:27864847, ECO:0000269 PubMed:28126851, ECO:0000269 PubMed:28182669}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving GRIN2A has been found in a family with epilepsy and neurodevelopmental defects. Translocation t(16;17)(p13.2;q11.2).
  • Note=GRIN2A somatic mutations have been frequently found in cutaneous malignant melanoma, suggesting that the glutamate signaling pathway may play a role in the pathogenesis of melanoma. {ECO:0000269 PubMed:21499247, ECO:0000269 PubMed:24455489}.

Relevant External Links for GRIN2A

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GRIN2A: view

No data available for Genatlas for GRIN2A Gene

Publications for GRIN2A Gene

  1. Systematic analysis of glutamatergic neurotransmission genes in alcohol dependence and adolescent risky drinking behavior. (PMID: 18606955) Schumann G … Mann K (Archives of general psychiatry 2008) 3 22 45 60
  2. NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific manner. (PMID: 17569088) Arning L … Epplen JT (Human genetics 2007) 3 22 45 60
  3. Analysis of correlation between serum D-serine levels and functional promoter polymorphisms of GRIN2A and GRIN2B genes. (PMID: 16266783) Iwayama Y … Yoshikawa T (Neuroscience letters 2006) 3 22 45 60
  4. Significant association between the genetic variations in the 5' end of the N-methyl-D-aspartate receptor subunit gene GRIN1 and schizophrenia. (PMID: 16476413) Zhao X … He L (Biological psychiatry 2006) 3 22 45 60
  5. Significant linkage and association between a functional (GT)n polymorphism in promoter of the N-methyl-D-aspartate receptor subunit gene (GRIN2A) and schizophrenia. (PMID: 17011703) Tang J … Xia K (Neuroscience letters 2006) 3 22 45 60

Products for GRIN2A Gene

Sources for GRIN2A Gene