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Aliases for GRIN2A Gene

Aliases for GRIN2A Gene

  • Glutamate Ionotropic Receptor NMDA Type Subunit 2A 2 3
  • Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2A 2 3 5
  • 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
  • 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 mental retardation. 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 landau-kleffner syndrome. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Alzheimer's disease. GO annotations related to this gene include calcium channel activity and ionotropic glutamate receptor activity. An important paralog of this gene is GRIN2D.

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

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GRIN2A on UCSC Golden Path with GeneCards custom track

Genomic Location for GRIN2A Gene

Chromosome:
16
Start:
9,753,404 bp from pter
End:
10,183,364 bp from pter
Size:
429,961 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:
    • 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, INADL 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

    UniProtKB/Swiss-Prot:

neXtProt entry for GRIN2A Gene

Proteomics data for GRIN2A Gene at MOPED

Post-translational modifications for GRIN2A Gene

  • Glycosylation at Asn 75, Asn 340, Asn 380, Asn 443, Asn 444, and Asn 541
  • Modification sites at PhosphoSitePlus

Other Protein References for GRIN2A Gene

Antibody Products

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

No data available for DME Specific Peptides for GRIN2A Gene

Domains & Families for GRIN2A Gene

Gene Families for GRIN2A Gene

Suggested Antigen Peptide Sequences for GRIN2A Gene

Graphical View of Domain Structure for InterPro Entry

Q12879

UniProtKB/Swiss-Prot:

NMDE1_HUMAN :
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2A/GRIN2A subfamily.
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

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.
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for GRIN2A Gene COMPARTMENTS Subcellular localization image for GRIN2A gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
extracellular 3
nucleus 2
cytoskeleton 1
cytosol 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GRIN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008021 synaptic vesicle IEA --
GO:0009986 cell surface ISS --
GO:0014069 postsynaptic density IEA --
GO:0016021 integral component of membrane IEA --
GO:0017146 NMDA selective glutamate receptor complex IDA 10480938
genes like me logo Genes that share ontologies with GRIN2A: view

Pathways & Interactions for GRIN2A Gene

SuperPathways for GRIN2A Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF 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:0000186 activation of MAPKK activity TAS --
GO:0001964 startle response IEA --
GO:0001975 response to amphetamine IEA --
GO:0006810 transport TAS 8768735
genes like me logo Genes that share ontologies with GRIN2A: view

Drugs & Compounds for GRIN2A Gene

(71) 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 173
Glycine Approved Nutra Full agonist, Agonist, antagonist, Target Endogenous potentiator, co-transmitter 197
Meperidine Approved Pharma Target, antagonist 66
Ketamine Approved Pharma Channel blocker, antagonist 480

(11) Additional Compounds for GRIN2A Gene - From: Novoseek, IUPHAR, Tocris, 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
  • Kyselina trifluoroctova
  • Perfluoroacetic acid
  • Trifluoracetic acid
76-05-1
cis-ACPD
477331-06-9

(5) Tocris Compounds for GRIN2A Gene

Compound Action Cas Number
cis-ACPD Potent NMDA agonist. Also group II mGluR agonist 477331-06-9
D-Aspartic acid NMDA agonist 1783-96-6
Homoquinolinic acid Selective, potent NMDA agonist 490-75-5
L-Aspartic acid NMDA agonist 56-84-8
NMDA Selective NMDA agonist 6384-92-5

(8) 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
Felbamate 25451-15-4
Flupirtine maleate 75507-68-5
Memantine hydrochloride NMDA receptor antagonist 41100-52-1
MK-801 (Dizocilpine) 77086-21-6
genes like me logo Genes that share compounds with GRIN2A: view

Transcripts for GRIN2A Gene

Unigene Clusters for GRIN2A Gene

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

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 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



SOURCE GeneReport for Unigene cluster for GRIN2A Gene Hs.411472

genes like me logo Genes that share expression patterns with GRIN2A: view

Protein tissue co-expression partners for GRIN2A Gene

Primer Products

In Situ Assay Products

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
dog
(Canis familiaris)
Mammalia GRIN2A 35
  • 90.03 (n)
  • 94.81 (a)
GRIN2A 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grin2a 35
  • 88.84 (n)
  • 95.29 (a)
Grin2a 16
Grin2a 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GRIN2A 35
  • 99.5 (n)
  • 99.52 (a)
GRIN2A 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grin2a 35
  • 89.18 (n)
  • 95.29 (a)
cow
(Bos Taurus)
Mammalia GRIN2A 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GRIN2A 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRIN2A 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRIN2A 35
  • 75.51 (n)
  • 81.34 (a)
GRIN2A 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRIN2A 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grin2a 35
  • 69.87 (n)
  • 74.49 (a)
zebrafish
(Danio rerio)
Actinopterygii grin2aa 35
  • 69.51 (n)
  • 69.58 (a)
grin2aa 36
  • 68 (a)
OneToMany
grin2ab 36
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nmdar2 37
  • 31 (a)
Species with no ortholog for GRIN2A:
  • 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)

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
VAR_010938 -
VAR_065899 Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
VAR_067725 -
VAR_067726 -
VAR_067727 -

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

Variant ID Type Subtype PubMed ID
nsv518585 CNV Loss 19592680
esv2713954 CNV Deletion 23290073
esv1678363 CNV Deletion 17803354
esv1747191 CNV Deletion 17803354
esv2672524 CNV Deletion 23128226
esv2422500 CNV Duplication 17116639
nsv905333 CNV Loss 21882294
dgv805e1 CNV Complex 17122850
nsv905334 CNV Loss 21882294
esv2435196 CNV Insertion 19546169
nsv513445 CNV Insertion 21212237
esv2671380 CNV Deletion 23128226
esv1005648 CNV Loss 20482838
esv271104 CNV Insertion 20981092
esv274276 CNV Insertion 20981092
nsv833138 CNV Loss 17160897
nsv9345 CNV Gain 18304495
nsv525725 CNV Loss 19592680
nsv905335 CNV Gain 21882294
nsv9346 CNV Gain 18304495

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

HapMap Linkage Disequilibrium report
GRIN2A
Human Gene Mutation Database (HGMD)
GRIN2A

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

Disorders for GRIN2A Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards

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

No data available for Genatlas for GRIN2A Gene

Publications for GRIN2A Gene

  1. NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific manner. (PMID: 17569088) Arning L. … Epplen J.T. (Hum. Genet. 2007) 3 23 48 67
  2. Further characterization of the molecular interaction between PSD-95 and NMDA receptors: the effect of the NR1 splice variant and evidence for modulation of channel gating. (PMID: 12068077) Rutter A.R. … Stephenson F.A. (J. Neurochem. 2002) 3 25 26
  3. Coexpression of postsynaptic density-95 protein with NMDA receptors results in enhanced receptor expression together with a decreased sensitivity to L-glutamate. (PMID: 11080203) Rutter A.R. … Stephenson F.A. (J. Neurochem. 2000) 23 25 26
  4. Functional (GT)n polymorphisms in promoter region of N-methyl-d-aspartate receptor 2A subunit (GRIN2A) gene affect hippocampal and amygdala volumes. (PMID: 20070378) Inoue H. … Kasai K. (Genes Brain Behav. 2010) 3 23
  5. Mechanisms of HIV-tat-induced phosphorylation of N-methyl-D-aspartate receptor subunit 2A in human primary neurons: implications for neuroAIDS pathogenesis. (PMID: 20448061) King J.E. … Berman J.W. (Am. J. Pathol. 2010) 3 23

Products for GRIN2A Gene

Sources for GRIN2A Gene

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