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Aliases for GRIN2A Gene

Aliases for GRIN2A Gene

  • Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2A 2 3
  • NMDAR2A 3 4 6
  • N-Methyl D-Aspartate Receptor Subtype 2A 3 4
  • GluN2A 3 4
  • FESD 3 6
  • NR2A 3 4
  • LKS 3 6
  • 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

External Ids for GRIN2A Gene

Previous Symbols for GRIN2A Gene

  • NMDAR2A

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 Receptor, Ionotropic, N-Methyl D-Aspartate 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 Ras signaling pathway and Ras signaling pathway. GO annotations related to this gene include calcium channel activity and N-methyl-D-aspartate selective 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 one or more NR2 (A-D) or NR3 (A-B) subunits. The ligand-gated channel is permeable to cations including Ca2+, and at resting membrane potentials NMDA receptors are inactive due to a voltage-dependent blockade of the channel pore by Mg2+. NMDA receptor activation, which requires binding of glutamate and glycine, leads to an influx of Ca2+ into the postsynaptic region where it activates several signaling cascades, including pathways leading to the induction of long-term potentiation (LTP) and depression (LTD). NMDA receptors have a critical role in excitatory synaptic transmission and plasticity in the CNS. They govern a range of physiological conditions including neurological disorders caused by excitotoxic neuronal injury, psychiatric disorders and neuropathic pain syndromes.

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

Genomic Location for GRIN2A Gene

Start:
9,753,408 bp from pter
End:
10,182,754 bp from pter
Size:
429,347 bases
Orientation:
Minus strand

Genomic View for GRIN2A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GRIN2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRIN2A Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn75, Asn340, Asn380, Asn443, Asn444, and Asn541

Other Protein References for GRIN2A Gene

No data available for DME Specific Peptides for GRIN2A Gene

Domains for GRIN2A Gene

Gene Families for GRIN2A Gene

HGNC:
  • GRI :Ligand-gated ion channels / Glutamate receptors, ionotropic
  • GR :Glutamate receptors
IUPHAR :

Suggested Antigen Peptide Sequences for GRIN2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q12879

UniProtKB/Swiss-Prot:

NMDE1_HUMAN
Family:
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2A/GRIN2A subfamily.:
    • Q12879
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

Gene Ontology (GO) - Molecular Function for GRIN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004970 ionotropic glutamate receptor activity --
GO:0004972 N-methyl-D-aspartate selective glutamate receptor activity IBA --
GO:0005234 extracellular-glutamate-gated ion channel activity IBA --
GO:0005261 cation channel activity --
GO:0005262 calcium channel activity IEA --
genes like me logo Genes that share ontologies with GRIN2A: view

Phenotypes for GRIN2A Gene

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

Animal Models for GRIN2A Gene

MGI Knock Outs for GRIN2A:

miRNA for GRIN2A Gene

miRTarBase miRNAs that target GRIN2A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
cytoskeleton 2
extracellular 2
nucleus 2
endoplasmic reticulum 1
peroxisome 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 --
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

Pathways for GRIN2A Gene

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

Gene Ontology (GO) - Biological Process for GRIN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001964 startle response IEA --
GO:0001975 response to amphetamine IEA --
GO:0006810 transport TAS 8768735
GO:0006816 calcium ion transport --
GO:0007215 glutamate receptor signaling pathway TAS 8768735
genes like me logo Genes that share ontologies with GRIN2A: view

Compounds for GRIN2A Gene

(5) Tocris Compounds for GRIN2A Gene

Compound Action Cas Number
(+)-MK 801 maleate Non-competitive NMDA antagonist, acts at ion channel site [77086-22-7]
D-AP5 Potent, selective NMDA antagonist. More active form of DL-AP5 (Cat. No. 0105) [79055-68-8]
DL-AP5 Potent, selective NMDA antagonist [76326-31-3]
DL-AP5 Sodium salt Sodium salt of DL-AP5 (Cat. No. 0105) [1303993-72-7]
QNZ 46 NR2C/NR2D-selective NMDA receptor non-competitive antagonist [1237744-13-6]

(3) HMDB Compounds for GRIN2A Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Loperamide
  • Apo-Loperamide
53179-11-6
Magnesium
  • Magnesium
7439-95-4

(7) Drugbank Compounds for GRIN2A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Felbamate
25451-15-4 target antagonist
Glycine
  • 2-Aminoacetic acid
56-40-6 target antagonist
Halothane
  • 2-Bromo-2-Chloro-1,1,1-Trifluoroethane
151-67-7 target antagonist
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target
Memantine
  • Memantina [INN-Spanish]
19982-08-2 target antagonist

(35) IUPHAR Ligand for GRIN2A Gene

Ligand Type Action Affinity Pubmed IDs
5,7-dichlorokynurenic acid Antagonist Antagonist 3.7
phencyclidine Channel blocker None
[3H]CGP39653 None None
LY233053 Antagonist Antagonist
D-aspartate Agonist Agonist
L701324 Antagonist Antagonist
glycine Agonist Agonist
Mg2+ Antagonist Antagonist
MK-801 Channel blocker None
CGP37849 Antagonist Antagonist
[3H]glycine None None
d-AP5 Antagonist Antagonist
(RS)-(tetrazol-5-yl)glycine Agonist Full agonist
[3H]CGS19755 None None
[3H]CGP61594 None None
[3H]CPP None None
L-aspartate Agonist Agonist
ketamine Channel blocker None
conantokin-G Antagonist Antagonist
CGS19755 Antagonist Antagonist
NVP-AAM077 Antagonist Antagonist
d-CCPene Antagonist Antagonist
D-serine Agonist Agonist
UBP141 Antagonist Antagonist
[3H]MDL105519 None None
homoquinolinic acid Agonist Full agonist
(+)-HA966 Agonist Partial agonist
L689560 Antagonist Antagonist
memantine Channel blocker None
N1-dansyl-spermine Channel blocker None
amantidine Channel blocker None
NMDA Agonist Full agonist
[3H]L689560 None None
[3H]MK-801 None None
GV196771A Antagonist Antagonist

(15) Novoseek inferred chemical compound relationships for GRIN2A Gene

Compound -log(P) Hits PubMed IDs
nmda 89.3 126
glutamate 73.5 23
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid 57.8 1
kainate 54.4 3
gaba 25.2 2
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) (7.8), Brain - Cortex (7.7), Brain - Anterior cingulate cortex (BA24) (7.1), and Brain - Hippocampus (4.6).

Integrated Proteomics: protein expression 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 expressions 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 35
  • 99.5 (n)
  • 99.52 (a)
GRIN2A 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GRIN2A 36
  • 93 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia GRIN2A 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRIN2A 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grin2a 35
  • 89.18 (n)
  • 95.29 (a)
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

Selected 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 MAF
rs42207 -- 10,179,511(+) TTCTT(C/T)CAGAA intron-variant
rs168866 -- 10,159,999(+) ACAGA(C/T)TCTTC intron-variant
rs183161 -- 10,158,585(+) attca(A/G)ccatg intron-variant
rs194355 -- 10,157,934(+) TTATC(A/G)TAAGT intron-variant
rs194356 -- 10,160,380(+) ATGGG(A/T)TGTAG intron-variant

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

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

(1) OMIM Diseases for GRIN2A Gene (138253)

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}.

(8) Novoseek inferred disease relationships for GRIN2A Gene

Disease -log(P) Hits PubMed IDs
schizophrenia 45.3 22
bipolar disorder 29.9 4
attention-deficit hyperactivity disorder 27.7 1
huntington disease 26.6 3
alcoholism 13.8 4

Relevant External Links for GRIN2A

Genetic Association Database (GAD)
GRIN2A
Human Genome Epidemiology (HuGE) Navigator
GRIN2A
genes like me logo Genes that share disorders with GRIN2A: view

Publications for GRIN2A Gene

  1. Human N-methyl-D-aspartate receptor modulatory subunit hNR2A: cloning and sequencing of the cDNA and primary structure of the protein. (PMID: 8061049) Foldes R.L. … Kamboj R.K. (Biochim. Biophys. Acta 1994) 3 4 23
  2. A microsatellite repeat in the promoter of the N-methyl-D-aspartate receptor 2A subunit (GRIN2A) gene suppresses transcriptional activity and correlates with chronic outcome in schizophrenia. (PMID: 12724619) Itokawa M. … Yoshikawa T. (Pharmacogenetics 2003) 3 23 48
  3. Extended analyses support the association of a functional (GT)n polymorphism in the GRIN2A promoter with Japanese schizophrenia. (PMID: 15774266) Iwayama-Shigeno Y. … Yoshikawa T. (Neurosci. Lett. 2005) 3 23 48
  4. Analysis of correlation between serum D-serine levels and functional promoter polymorphisms of GRIN2A and GRIN2B genes. (PMID: 16266783) Iwayama Y. … Yoshikawa T. (Neurosci. Lett. 2006) 3 23 48
  5. 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. (Biol. Psychiatry 2006) 3 23 48

Products for GRIN2A Gene

  • antibodies-online peptides for GRIN2A
  • antibodies-online antibodies for GRIN2A
  • antibodies-online kits for GRIN2A

Sources for GRIN2A Gene

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