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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GRIN2A Gene

protein-coding   GIFtS: 72
GCID: GC16M009762

glutamate receptor, ionotropic, N-methyl D-aspartate 2A


(Previous symbol: NMDAR2A)
 Explore 39 diseases affiliated with
GRIN2A via our new
 Human Malady Compendium 
Biological research products
for GRIN2A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2A1 2     N-Methyl D-Aspartate Receptor Subtype 2A2 3
NMDAR2A1 2 3 5     EPND2
GluN2A1 2 3     Glutamate Receptor Ionotropic, NMDA 2A2
Glutamate [NMDA] Receptor Subunit Epsilon-12 3     N-Methyl-D-Aspartate Receptor Channel, Subunit Epsilon-12
NR2A2 3     N-Methyl-D-Aspartate Receptor Subunit 2A2
HNR2A1     NMDA Receptor Subtype 2A2

External Ids:    HGNC: 45851   Entrez Gene: 29032   Ensembl: ENSG000001834547   OMIM: 1382535   UniProtKB: Q128793   

Export aliases for GRIN2A gene to outside databases

Previous GC identifers: GC16M009658 GC16M009991 GC16M009822


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GRIN2A:
N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate-gated ion channels. These receptors have been
shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic
transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed
of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B),
NMDAR2C (GRIN2C) and NMDAR2D (GRIN2D). Alternatively spliced transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Aug 2008)

UniProtKB/Swiss-Prot: NMDE1_HUMAN, Q12879
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

summary for GRIN2A:
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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GRIN2A gene promoter:
         CREB   deltaCREB   NRSF form 1   IRF-1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGRIN2A promoter sequence
   Search SABiosciences Chromatin IP Primers for GRIN2A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GRIN2A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.2   Ensembl cytogenetic band:  16p13.2   HGNC cytogenetic band: 16p13.2

GRIN2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GRIN2A gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M009762:  view genomic region     (about GC identifiers)

Start:
9,847,265 bp from pter      End:
10,276,611 bp from pter
Size:
429,347 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NMDE1_HUMAN, Q12879 (See protein sequence)
Recommended Name: Glutamate receptor ionotropic, NMDA 2A precursor  
Size: 1464 amino acids; 165283 Da
Subunit: 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 (By similarity)
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane;
Multi-pass membrane protein
1 PDB 3D structure from and Proteopedia for GRIN2A:
3NFL (3D)    
Secondary accessions: O00669 Q17RZ6
Alternative splicing: 2 isoforms:  Q12879-1   Q12879-2   

Explore the universe of human proteins at neXtProt for GRIN2A: NX_Q12879

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q12879

  • GRIN2A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_000824.1  NP_001127879.1  NP_001127880.1  

    ENSEMBL proteins: 
     ENSP00000379818   ENSP00000454998   ENSP00000332549   ENSP00000379820   ENSP00000385872  
     ENSP00000441572  
    Reactome Protein details: Q12879
    Human Recombinant Protein Products: 
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    Uscn Proteins for GRIN2A

    Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8768735
    GO:0009986cell surface ISS--
    GO:0014069postsynaptic density IEA--


    GRIN2A for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for GRIN2A


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GRIN2A for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR018884 NMDAR2_C
     IPR019594 Glu_rcpt_Glu/Gly-bd
     IPR001638 SBP_bac_3
     IPR001320 Iontro_glu_rcpt
     IPR001828 ANF_lig-bd_rcpt

    Graphical View of Domain Structure for InterPro Entry Q12879

    ProtoNet protein and cluster: Q12879

    2 Blocks protein families:
    IPB001320 Ionotropic glutamate receptor
    IPB001508 NMDA receptor signature


    UniProtKB/Swiss-Prot: NMDE1_HUMAN, Q12879
    Similarity: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2A/GRIN2A subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: NMDE1_HUMAN, Q12879
    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

         Genatlas biochemistry entry for GRIN2A:
    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

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    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate GRIN2A (see all 20):
    hsa-miR-579 hsa-miR-30c hsa-miR-125a-5p hsa-miR-137 hsa-miR-30d hsa-miR-519a hsa-miR-30a hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidGRIN2A 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5/14 molecular function terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004970ionotropic glutamate receptor activity ----
    GO:0004972N-methyl-D-aspartate selective glutamate receptor activity IEA--
    GO:0005234extracellular-glutamate-gated ion channel activity IEA--
    GO:0005261cation channel activity ----
    GO:0005262calcium channel activity IEA--


    GRIN2A for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for GRIN2A: Grin2atm1Nak Grin2atm1Rsp Grin2atm1Mim
         3 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Grin2a):
     behavior/neurological  integument  nervous system 

    GRIN2A for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/26 super-pathways (see all 26About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1CREB phosphorylation through the activation of CaMKII
    CREB phosphorylation through the activation of CaMKII1.00
    Unblocking of NMDA receptor, glutamate binding and activation0.68
    Ras activation uopn Ca2+ infux through NMDA receptor0.78
    2Post NMDA receptor activation events
    Post NMDA receptor activation events1.00
    CREB phosphorylation through the activation of Ras0.82
    Activation of NMDA receptor upon glutamate binding and postsynaptic events0.89
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses1.00
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling1.00
    Neurophysiological process_Glutamate regulation of Dopamine D1A receptor signaling0.98
    5Signal transduction Erk Interactions: Inhibition of Erk
    Signal transduction Erk Interactions: Inhibition of Erk1.00
    Signal transduction_Erk Interactions- Inhibition of Erk0.92

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5 EMD Millipore Pathways for GRIN2A
        Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
    Glutamic acid signaling
    Signal transduction Erk Interactions- Inhibition of Erk
    Neurophysiological process PGE2-induced pain processing
    Calcium channels

    1 R&D Systems Pathway for GRIN2A
        Synaptic Neurotransmission: Glutamatergic Excitation

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GRIN2A (see all 7)
        Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Pathogenesis of ALS
    Intracellular Calcium Signaling
    Huntington's Disease Pathway
    PEDF Induced Signaling

    2 Cell Signaling Technology (CST) Pathways for GRIN2A
        Ca, cAMP and Lipid Signaling
    Neuroscience

    3 GeneGo (Thomson Reuters) Pathways for GRIN2A
        Signal transduction Erk Interactions- Inhibition of Erk
    Neurophysiological process PGE2-induced pain processing
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling

    3 BioSystems Pathways for GRIN2A 
        Hypothetical Network for Drug Addiction
    Alzheimers Disease
    Reelin signaling pathway

    5/9        Reactome Pathways for GRIN2A (see all 9)
        Ras activation uopn Ca2+ infux through NMDA receptor
    Unblocking of NMDA receptor, glutamate binding and activation
    CREB phosphorylation through the activation of CaMKII
    Transmission across Chemical Synapses
    CREB phosphorylation through the activation of Ras


    5/7         Kegg Pathways  (Kegg details for GRIN2A) (see all 7):
        Calcium signaling pathway
    Neuroactive ligand-receptor interaction
    Long-term potentiation
    Glutamatergic synapse
    Alzheimer's disease


    GRIN2A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GRIN2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/75 Interacting proteins for GRIN2A (Q128792, 3 ENSP000003325494) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG4P783522, 3, ENSP000002938134MINT-1900076 MINT-1900851 MINT-1901389 I2D: score=11 STRING: ENSP00000293813
    GRIN1Q055863, ENSP000003606164I2D: score=9 STRING: ENSP00000360616
    IL16Q140053, ENSP000003029354I2D: score=7 STRING: ENSP00000302935
    PTK2BQ142893, ENSP000003328164I2D: score=3 STRING: ENSP00000332816
    DLG3Q927963, ENSP000003634804I2D: score=2 STRING: ENSP00000363480
    About this table

    Gene Ontology (GO): 5/57 biological process terms (GO ID links to tree view) (see all 57):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001508regulation of action potential ----
    GO:0001964startle response IEA--
    GO:0001975response to amphetamine IEA--
    GO:0006810transport TAS8768735
    GO:0006816calcium ion transport ----


    GRIN2A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GRIN2A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GRIN2A available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (+)-MK 801 maleate Non-competitive NMDA antagonist, acts at ion channel site [77086-22-7]
    NMDASelective NMDA agonist[6384-92-5]
    SDZ 220-581Competitive NMDA antagonist[174575-17-8]
    PPPACompetitive NR2A antagonist--
    (R)-CPPPotent NMDA antagonist. More active enantiomer of (RS)-CPP (Cat. No. 0173)[126453-07-4]

    3 HMDB Compounds for GRIN2A    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    LoperamideApo-Loperamide (see all 10)53179-11-6--
    MagnesiumMagnesium (see all 2)7439-95-4--

    7 DrugBank Compounds for GRIN2A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Glycine2-Aminoacetic acid (see all 4)56-40-6targetantagonist17513636 17403555 17646495 17405869 11752352 17360906
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--11080203 12068077 17139284 17016423 8886398
    MemantineMemantina [INN-Spanish] (see all 5)19982-08-2targetantagonist8886398 15901795 16009352 14530799 9120573
    Tenocyclidine-- 21500-98-1targetantagonist2538766 17157509
    Felbamate-- 25451-15-4targetantagonist11752352
    Halothane2-Bromo-2-Chloro-1,1,1-Trifluoroethane (see all 14)151-67-7targetantagonist8968191
    Meperidine-- 57-42-1targetantagonist10735801

    10/15 Novoseek chemical compound relationships for GRIN2A gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nmda 89.3 192 10322092 (4), 10987840 (3), 9349560 (3), 15590920 (3) (see all 99)
    glutamate 73.5 27 16166158 (3), 15928921 (2), 14699423 (2), 10987840 (1) (see all 19)
    alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid 57.8 1 17459877 (1)
    kainate 54.4 3 10235640 (1), 12535174 (1), 18462708 (1)
    gaba 25.2 4 18585682 (1), 12835949 (1)
    tyrosine 24.8 19 18678878 (2), 11466426 (2), 12451687 (2), 15837820 (1) (see all 8)
    calcium 23.9 7 8967993 (1), 19917116 (1), 15210575 (1), 8032174 (1) (see all 7)
    guanylate 17.3 3 12859686 (1), 15590920 (1)
    ethanol 15.8 9 11461975 (3), 14615013 (2), 19788495 (1), 8804725 (1)
    serine 12.8 3 10064831 (2), 16266783 (1)

    Search CenterWatch for drugs/clinical trials and news about GRIN2A / NMDE1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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    About This Section

    REFSEQ mRNAs for GRIN2A gene (3 alternative transcripts): 
    NM_000833.3  NM_001134407.1  NM_001134408.1  

    Unigene Cluster for GRIN2A:

    Glutamate receptor, ionotropic, N-methyl D-aspartate 2A
    Hs.411472  [show with all ESTs]
    Unigene Representative Sequence: NM_001134407
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396573(uc002czr.4 uc002czo.4 uc010uym.2) ENST00000562109
    ENST00000330684 ENST00000461292 ENST00000463531 ENST00000566683 ENST00000568247
    ENST00000566670 ENST00000566665(uc010buk.3) ENST00000396575 ENST00000404927
    ENST00000535259(uc010uyn.2)

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    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate GRIN2A (see all 20):
    hsa-miR-579 hsa-miR-30c hsa-miR-125a-5p hsa-miR-137 hsa-miR-30d hsa-miR-519a hsa-miR-30a hsa-miR-125b
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB209695.1 AK295620.1 AK308862.1 BC117131.1 BC143273.1 CR749843.1 U09002.1 U90277.1 

    7 DOTS entries:

    DT.212872  DT.313196  DT.120724194  DT.91752896  DT.95296161  DT.40125995  DT.99941816 

    24/70 AceView cDNA sequences (see all 70):

    F08339 H09825 BM827634 BX108347 AI124875 AA351127 F09451 BX642521 
    AA662774 U90277 Z41346 CD674685 BX117526 Z42257 F12999 F11802 
    NM_000833 CR749843 AI921897 AL706855 Z38493 AW961861 R43097 AA875890 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GRIN2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGAAGTGCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    GRIN2A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Primitive gut tube-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See GRIN2A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GRIN2A

    SOURCE GeneReport for Unigene cluster: Hs.411472
        SABiosciences Expression via Pathway-Focused PCR Arrays including GRIN2A: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat
              Huntington's Disease in human mouse rat
              Synaptic Plasticity in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRIN2A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GRIN2A gene from 3/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves GRIN2A1 glutamate receptor, ionotropic, N-methyl D-aspartate more 75.57(n)
    81.66(a)
      427678  XM_425252.2  XP_425252.2 
    lizard
    (Anolis carolinensis)
    Reptilia GRIN2A6
    --
    85(a)
    1 ↔ 1
    GL343592.1(3409-48441)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5632971 similar to N-methyl-D-aspartate receptor channel subunit more 69.09(n)
    69.06(a)
      563297  XM_686662.2  XP_691754.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GRIN2A gene
    GRIA32  GRIN2D2  GRIK12  GRIA22  GRIK22  GRIN12  GRIA12  GRIK32  
    GRIK42  GRIN3A2  GRIN2B2  GRIK52  GRIN3B2  GRIN2C2  GRIA42  GRID12  
    GRID22  
    9 SIMAP similar genes for GRIN2A using alignment to 2 protein entries:     NMDE1_HUMAN (see all proteins):
    NR2A    GRIN2C    NMDAR2C    GRIN2D    GRIN2B    GRIK2
    GRID2    GRIK3    GRIK1

    GRIN2A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/9416 NCBI SNPs in GRIN2A are shown (see all 9416    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs740110181,2
    C,--9846794(+) TCTGCC/GTGAAA 2 -- ds50012Minor allele frequency- G:0.09WA 120
    rs755200141,2
    F,--9846971(+) AGGAGA/GGAGCT 2 -- ds50011Minor allele frequency- G:0.06WA 118
    rs1159716751,2
    F,--9846993(+) GGAGCC/GTCGCA 2 -- ds50011Minor allele frequency- G:0.03WA 118
    rs1421328931,2
    --9847033(+) CACACC/TGGCTC 2 -- ds50010--------
    rs563652291,2
    C,--9847098(+) AGATGC/TGGGTA 2 -- ds50013Minor allele frequency- T:0.09WA CSA 122
    rs560223241,2
    C,--9847119(+) ACAGCC/GTGCAG 2 -- ds50013Minor allele frequency- G:0.09WA CSA 122
    rs583404321,2
    C,--9847314(+) GAAATT/CTTCCT 2 -- ut312Minor allele frequency- C:0.09WA 120
    rs1925047171,2
    --9847337(+) TTACAC/TCATAT 2 -- ut310--------
    rs1145968021,2
    F,--9847374(+) GTTATA/TTACAT 2 -- ut311Minor allele frequency- T:0.05WA 118
    rs169662421,2
    C,F,H,--9847489(+) CCTCTA/GTCATA 2 -- ut3110Minor allele frequency- G:0.03NA NS EA WA CSA 672

    HapMap Linkage Disequilibrium report for GRIN2A (9847265 - 10097265 bp, first 250kb of GRIN2A)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for GRIN2A
         3 CNVs: 3991 5328 30737
         3 Indels: 102211 25767 33294
    Human Gene Mutation Database (HGMD): GRIN2A

    2 SABiosciences Cancer Mutation PCR Assays for GRIN2A:
    Cosmic IdAA Change
    22050p.S278F
    108119p.E371K
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GRIN2A
    DNA2.0 Custom Variant and Variant Library Synthesis for GRIN2A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    GRIN2A for disorders           About GeneDecksing

    OMIM gene information: 138253    OMIM disorders: --

    UniProtKB/Swiss-Prot: NMDE1_HUMAN, Q12879
  • Defects in GRIN2A are the cause of epilepsy with neurodevelopmental defects (EPND) [MIM:613971]. EPND is a
  • neurodevelopmental defect characterized by mental retardation, with behavioral problems, associated with epilepsy,
    learning difficuties and variable degree of cognitive impairment. 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 (PubMed:21499247)

    20/39 diseases for GRIN2A (see all 39):    About MalaCards
    paine syndrome    attention deficit hyperactivity disorder    spinal cord injury    amyotrophic lateral sclerosis (als)
    amyotrophic lateral sclerosis    temporal lobe epilepsy    transient cerebral ischemia    autism spectrum disorder
    lateral sclerosis    toxic encephalopathy    anorexia nervosa    systemic lupus erythematosus
    lupus erythematosus    bipolar disorder    alcohol dependence    brain injury
    huntington's disease    neuronitis    brain ischemia    alcoholism

    5 diseases from the University of Copenhagen DISEASES database for GRIN2A:
    Toxic encephalopathy     Schizophrenia     Neurodegenerative disease     Brain disease
    Vascular disease

    8 Novoseek disease relationships for GRIN2A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizophrenia 45.3 27 17011703 (4), 19917116 (4), 18585682 (3), 12724619 (3) (see all 10)
    bipolar disorder 29.9 4 18585682 (2), 15952869 (1), 12809987 (1)
    attention-deficit hyperactivity disorder 27.7 1 14699423 (1)
    huntington disease 26.6 5 17569088 (2), 15742215 (1)
    alcoholism 13.8 4 18606955 (4)
    dysplasia 0 1 16957582 (1)
    mood disorders 0 1 12809987 (1)
    epilepsy 0 1 17234586 (1)

    Genetic Association Database (GAD): GRIN2A
    Human Genome Epidemiology (HuGE) Navigator: GRIN2A (25 documents)

    Export disorders for GRIN2A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GRIN2A gene, integrated from 9 sources (see all 316):
    (articles sorted by number of sources associating them with GRIN2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 12724619)1, 4, 9 Itokawa M.... Yoshikawa T. (2003)
    2. Extended analyses support the association of a functional (GT)n polymorphism in the GRIN2A promoter with Japanese schizophrenia. (PubMed id 15774266)1, 4, 9 Iwayama-Shigeno Y....Yoshikawa T. (2005)
    3. Analysis of correlation between serum D-serine levels and functional promoter polymorphisms of GRIN2A and GRIN2B genes. (PubMed id 16266783)1, 4, 9 Iwayama Y....Yoshikawa T. (2006)
    4. NR2A and NR2B receptor gene variations modify age at onset in Huntington disease. (PubMed id 15742215)1, 4, 9 Arning L....Epplen J.T. (2005)
    5. Human N-methyl-D-aspartate receptor modulatory subunit hNR2A: cloning and sequencing of the cDNA and primary structure of the protein. (PubMed id 8061049)1, 2, 9 Foldes R.L.... Kamboj R.K. (1994)
    6. Exome sequencing identifies GRIN2A as frequently muta ted in melanoma. (PubMed id 21499247)1, 2 Wei X....Samuels Y. (2011)
    7. Mutations in GRIN2A and GRIN2B encoding regulatory su bunits of NMDA receptors cause variable neurodevelopmental phenotypes. (PubMed id 20890276)1, 2 Endele S....Kutsche K. (2010)
    8. 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. (PubMed id 12068077)1, 7 Rutter A.R....Stephenson F.A. (2002)
    9. Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor. (PubMed id 12082569)1, 4 Williams N.M....O'Donovan M.C. (2002)
    10. Localization of the human NMDAR2D receptor subunit gene (GRIN2D) to 19q13.1-qter, the NMDAR2A subunit gene to 16p13.2 (GRIN2A), and the NMDAR2C subunit gene (GRIN2C) to 17q24-q25 using somatic cell hybrid and radiation hybrid mapping panels. (PubMed id 9480759)1, 3 Kalsi G....Gurling H. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2903 HGNC: 4585 AceView: GRIN2A Ensembl:ENSG00000183454 euGenes: HUgn2903
    ECgene: GRIN2A Kegg: 2903 H-InvDB: GRIN2A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GRIN2A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GRIN2A gene:
    Search GeneIP for patents involving GRIN2A

    Licensable Technologies for GRIN2A gene:
     Tufts University:  Treatment of Obsessive-Compulsive Disorder and Compulsive Disorders (including Over-Eating, Alcoholism & Smoking)
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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