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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

  • NMDAR2A

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 Benign Epilepsy With Centrotemporal Spikes. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling. Gene Ontology (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

  • Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28105280). Sensitivity to glutamate and channel kinetics depend on the subunit composition; channels containing GRIN1 and GRIN2A have higher sensitivity to glutamate and faster kinetics than channels formed by GRIN1 and GRIN2B (PubMed:26919761, PubMed:26875626). Contributes to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning (By similarity).

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

GeneHancer (GH) Regulatory Elements for GRIN2A Gene

Promoters and enhancers for GRIN2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J010180 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 667.7 +1.2 1242 3.7 HDGF RB1 ZNF2 KLF5 IRF4 RAD21 ETS1 EGR1 SCRT2 ZNF143 GRIN2A GC16P010176
GH16J010120 Enhancer 0.8 ENCODE dbSUPER 39.1 +61.4 61408 2.7 CTCF MAFG RAD21 MAFF ZNF316 FOS ATF7 MAFK EMSY GRIN2A LOC105371076 GC16M010114 GC16P010176
GH16J010129 Enhancer 0.5 dbSUPER 32 +52.9 52855 2.5 ARNT ATF7 PLRG1 DPF2 ATF2 GRIN2A GC16M010114 GC16P010176
GH16J010126 Enhancer 0.4 FANTOM5 ENCODE 33.8 +56.4 56374 1 GRIN2A ATF7IP2 GC16M010114 GC16P010176
GH16J010256 Enhancer 1.2 Ensembl ENCODE 10 -74.1 -74108 2 FOXA2 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 ZNF143 RUNX3 NFKBIZ ENSG00000256013 GRIN2A LOC105371078 ATF7IP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRIN2A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GRIN2A gene promoter:
  • NRSF form 2
  • NRSF form 1
  • deltaCREB
  • CREB
  • IRF-1

Genomic Locations for GRIN2A Gene

Genomic Locations for GRIN2A Gene
chr16:9,753,404-10,183,364
(GRCh38/hg38)
Size:
429,961 bases
Orientation:
Minus strand
chr16:9,847,265-10,276,611
(GRCh37/hg19)
Size:
429,347 bases
Orientation:
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:
    Q12879-NMDE1_HUMAN
    Recommended name:
    Glutamate receptor ionotropic, NMDA 2A
    Protein Accession:
    Q12879
    Secondary Accessions:
    • O00669
    • Q17RZ6

    Protein attributes for GRIN2A Gene

    Size:
    1464 amino acids
    Molecular mass:
    165283 Da
    Quaternary structure:
    • Heterotetramer. Forms heterotetrameric channels composed of two zeta subunits (GRIN1), and two epsilon subunits (GRIN2A, GRIN2B, GRIN2C or GRIN2D) (in vitro) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28105280). Can also form heterotetrameric channels that contain at least one zeta subunit (GRIN1), at least one epsilon subunit, plus GRIN3A or GRIN3B. In vivo, the subunit composition may depend on the expression levels of the different subunits. Found in a complex with GRIN1, GRIN3A and PPP2CB (By similarity). Found in a complex with GRIN1 and GRIN3B (By similarity). Interacts with AIP1 (By similarity). Interacts with HIP1 and NETO1. 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). Interacts with PDZ domains of PATJ and DLG4. Interacts with LRFN2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for GRIN2A Gene

    Alternative splice isoforms for GRIN2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRIN2A Gene

Post-translational modifications for GRIN2A Gene

  • Glycosylation at isoforms=2541, isoforms=2444, Asn443, isoforms=2380, Asn340, and isoforms=275
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for GRIN2A (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

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

Suggested Antigen Peptide Sequences for GRIN2A Gene

Graphical View of Domain Structure for InterPro Entry

Q12879

UniProtKB/Swiss-Prot:

NMDE1_HUMAN :
  • Contains an N-terminal domain, a ligand-binding domain and a transmembrane domain. Agonist binding to the extracellular ligand-binding domains triggers channel gating.
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2A/GRIN2A subfamily.
Domain:
  • Contains an N-terminal domain, a ligand-binding domain and a transmembrane domain. Agonist binding to the extracellular ligand-binding domains triggers channel gating.
  • A hydrophobic region that gives rise to the prediction of a transmembrane span does not cross the membrane, but is part of a discontinuously helical region that dips into the membrane and is probably part of the pore and of the selectivity filter.
Family:
  • 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

UniProtKB/Swiss-Prot Function:
Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28105280). Sensitivity to glutamate and channel kinetics depend on the subunit composition; channels containing GRIN1 and GRIN2A have higher sensitivity to glutamate and faster kinetics than channels formed by GRIN1 and GRIN2B (PubMed:26919761, PubMed:26875626). Contributes to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning (By similarity).
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

Phenotypes From GWAS Catalog for GRIN2A Gene

Gene Ontology (GO) - Molecular Function for GRIN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004970 ionotropic glutamate receptor activity IEA --
GO:0004972 NMDA glutamate receptor activity TAS 17526495
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005216 ion channel activity IEA --
GO:0005234 extracellularly glutamate-gated 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

miRNA for GRIN2A Gene

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

COMPARTMENTS
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 TAS,IEA --
GO:0005887 integral component of plasma membrane TAS,IDA 26875626
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:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
genes like me logo Genes that share ontologies with GRIN2A: view

Drugs & Compounds for GRIN2A Gene

(147) Drugs for GRIN2A Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, 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 185
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, antagonist, Target 254
Meperidine Approved Pharma Target, antagonist 67
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 251

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>3</sup>H]MK-801
CGS19755
Antagonist
MK-801
Channel blocker
trifluoroacetic acid
  • Acide trifluoroacetique
  • CF3COOH
  • Perfluoroacetic acid
  • Trifluoressigsaeure
  • Trifluoroacetate
76-05-1

(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
genes like me logo Genes that share compounds with GRIN2A: view

Transcripts for GRIN2A Gene

mRNA/cDNA 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
GRIN2A
ECgene alternative splicing isoforms for
GRIN2A

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 and MOPED for GRIN2A Gene



Protein tissue co-expression partners for GRIN2A Gene

NURSA nuclear receptor signaling pathways regulating expression of GRIN2A Gene:

GRIN2A

SOURCE GeneReport for Unigene cluster for GRIN2A Gene:

Hs.411472

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
Systems:
  • nervous
  • skeletal muscle
Regions:
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
chimpanzee
(Pan troglodytes)
Mammalia GRIN2A 34 33
  • 99.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GRIN2A 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRIN2A 34 33
  • 90.03 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grin2a 33
  • 89.18 (n)
mouse
(Mus musculus)
Mammalia Grin2a 16 34 33
  • 88.84 (n)
oppossum
(Monodelphis domestica)
Mammalia GRIN2A 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRIN2A 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRIN2A 34 33
  • 75.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRIN2A 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grin2a 33
  • 69.87 (n)
zebrafish
(Danio rerio)
Actinopterygii grin2aa 34 33
  • 69.51 (n)
OneToMany
grin2ab 34
  • 57 (a)
OneToMany
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

ENSEMBL:
Gene Tree for GRIN2A (if available)
TreeFam:
Gene Tree for GRIN2A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GRIN2A: view image

Paralogs for GRIN2A Gene

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

  • NMDE1_HUMAN
  • F5GZ52_HUMAN
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 Variation AA Info Type
rs1008542780 uncertain-significance, Epilepsy, focal, with speech disorder and with or without mental retardation 9,759,983(-) G/A/C 3_prime_UTR_variant
rs1014531 benign, Epilepsy, focal, with speech disorder and with or without mental retardation 9,761,937(-) G/A 3_prime_UTR_variant
rs1015252772 uncertain-significance, Epilepsy, focal, with speech disorder and with or without mental retardation 9,756,971(-) A/G 3_prime_UTR_variant
rs1022798673 uncertain-significance, Epilepsy, focal, with speech disorder and with or without mental retardation 9,762,881(-) C/A/T 3_prime_UTR_variant
rs1057519551 uncertain-significance, Epileptic encephalopathy 9,849,946(-) T/C coding_sequence_variant, missense_variant

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

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

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)

Additional Variant Information for GRIN2A Gene

Human Gene Mutation Database (HGMD)
GRIN2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRIN2A

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

Disorders for GRIN2A Gene

MalaCards: The human disease database

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

UniProtKB/Swiss-Prot

NMDE1_HUMAN
  • 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:27839871, ECO:0000269 PubMed:27864847, ECO:0000269 PubMed:28095420, 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}.

Additional Disease Information for GRIN2A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 44 58
  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 44 58
  3. 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 44 58
  4. 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 44 58
  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 44 58

Products for GRIN2A Gene

Sources for GRIN2A Gene