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

GRIN2C Gene

protein-coding   GIFtS: 72
GCID: GC17M072854

Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2C


(Previous symbol: NMDAR2C)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2C1 2     NR2C2 3
NMDAR2C1 2 3 5     N-Methyl D-Aspartate Receptor Subtype 2C2 3
Glutamate [NMDA] Receptor Subunit Epsilon-32 3     Glutamate Receptor Ionotropic, NMDA 2C2
GluN2C2 3     N-Methyl-D-Aspartate Receptor Subunit 2C2

External Ids:    HGNC: 45871   Entrez Gene: 29052   Ensembl: ENSG000001615097   OMIM: 1382545   UniProtKB: Q149573   

Export aliases for GRIN2C gene to outside databases

Previous GC identifers: GC17M075896 GC17M073302 GC17M073435 GC17M070349 GC17M068248


(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 GRIN2C Gene:
This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic
glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an
important role in physiological processes such as learning, memory, and synaptic development. The receptor is a
tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a
channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit
composition. Alterations in the subunit composition of the receptor are associated with pathophysiological
conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing
results in multiple transcript variants. (provided by RefSeq, Jun 2013)

GeneCards Summary for GRIN2C Gene: 
GRIN2C (glutamate receptor, ionotropic, N-methyl D-aspartate 2C) is a protein-coding gene. Diseases associated with GRIN2C include paine syndrome, and toxic encephalopathy, and among its related super-pathways are Parkinson's disease and Amyotrophic lateral sclerosis (ALS). GO annotations related to this gene include extracellular-glutamate-gated ion channel activity and protein N-terminus binding. An important paralog of this gene is GRIA3.

UniProtKB/Swiss-Prot: NMDE3_HUMAN, Q14957
Function: NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and
voltage-dependent sensitivity to magnesium. Mediated by glycine

summary for GRIN2C 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 GRIN2C Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GRIN2C gene promoter:
         AREB6   USF1   USF-1   NRSF form 1   SEF-1 (1)   CUTL1   Tal-1beta   ITF-2   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGRIN2C promoter sequence
   Search SABiosciences Chromatin IP Primers for GRIN2C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GRIN2C


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

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

GRIN2C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GRIN2C gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M072854:  view genomic region     (about GC identifiers)

Start:
72,838,162 bp from pter      End:
72,857,627 bp from pter
Size:
19,466 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NMDE3_HUMAN, Q14957 (See protein sequence)
Recommended Name: Glutamate receptor ionotropic, NMDA 2C precursor  
Size: 1233 amino acids; 134209 Da
Subunit: Interacts with PDZ domains of INADL and DLG4 (By similarity). Forms heteromeric channel of a zeta subunit
(GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B). Interacts
(via PDZ-binding motif) with SNX27 (via PDZ domain); the interaction is required for recycling to the plasma
membrane when endocytosed and prevent degradation in lysosomes
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell
membrane; Multi-pass membrane protein
Secondary accessions: B2RTT1

Explore the universe of human proteins at neXtProt for GRIN2C: NX_Q14957

Explore proteomics data for GRIN2C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14957

  • GRIN2C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GRIN2C Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000826.2  NP_001265482.1  

    ENSEMBL proteins: 
     ENSP00000293190   ENSP00000338645  
    Reactome Protein details: Q14957
    Human Recombinant Protein Products for GRIN2C: 
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    Novus Biologicals GRIN2C Lysates
    Browse Sino Biological Recombinant Proteins
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    Cloud-Clone Corp. Proteins for GRIN2C 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS9798920
    GO:0014069postsynaptic density IEA--
    GO:0016020membrane ----

    GRIN2C for ontologies           About GeneDecksing



    GRIN2C Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    GRI: Ligand-gated ion channels / Glutamate receptors, ionotropic
    GR: Glutamate receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: GluN2C 
    Ionotropic glutamate receptors

    5/6 InterPro protein domains (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 Q14957

    ProtoNet protein and cluster: Q14957

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


    UniProtKB/Swiss-Prot: NMDE3_HUMAN, Q14957
    Similarity: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2C/GRIN2C subfamily


    GRIN2C for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NMDE3_HUMAN, Q14957
    Function: NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and
    voltage-dependent sensitivity to magnesium. Mediated by glycine

         Genatlas biochemistry entry for GRIN2C:
    N-methyl D-aspartate receptor 3,epsilon 3 subunit glutamate receptor,expressed in brain,mainly in cerebellum,basal
    ganglia,heart,skeletal muscle,pancreas,involved in excitatory neurotransmission and in neuronal cell
    death,playing a central role in verbal memory and cognitive function

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004970ionotropic glutamate receptor activity ----
    GO:0004972N-methyl-D-aspartate selective glutamate receptor activity IEA--
    GO:0005215transporter activity ----
    GO:0005234extracellular-glutamate-gated ion channel activity IEA--
    GO:0005261cation channel activity IEA--
         
    GRIN2C for ontologies           About GeneDecksing


    Phenotypes:
         7 GenomeRNAi human phenotypes for GRIN2C:
     Decreased DCP1a protein expres  Decreased TP53 protein express  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 
     Increased HPV18 LCR reporter a  Increased Salmonella enterica   Proliferating cells 

         3 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Grin2c):
     behavior/neurological  nervous system  normal 

    GRIN2C for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GRIN2C: Grin2ctm1Rsp Grin2ctm1Nts Grin2ctm2Rsp Grin2ctm1Mwa Grin2ctm1Nak

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GRIN2C 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GRIN2C About   (see all 24)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Alzheimer's disease0.46
    Alzheimers Disease0.44
    2Pathogenesis of ALS
    Amyotrophic lateral sclerosis (ALS)0.31
    Pathogenesis of ALS0.31
    3Post NMDA receptor activation events
    Post NMDA receptor activation events0.89
    CREB phosphorylation through the activation of Ras0.82
    Activation of NMDA receptor upon glutamate binding and postsynaptic events0.89
    4Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    5CREB phosphorylation through the activation of CaMKII
    CREB phosphorylation through the activation of CaMKII0.78
    Unblocking of NMDA receptor, glutamate binding and activation0.68
    Ras activation uopn Ca2+ infux through NMDA receptor0.78

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for GRIN2C
        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 GRIN2C
        Synaptic Neurotransmission: Glutamatergic Excitation

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GRIN2C (see all 7)
        Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Pathogenesis of ALS
    Intracellular Calcium Signaling
    Huntington's Disease Pathway
    PEDF Induced Signaling

    3 GeneGo (Thomson Reuters) Pathways for GRIN2C
        Signal transduction Erk Interactions- Inhibition of Erk
    Neurophysiological process PGE2-induced pain processing
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling

    2 BioSystems Pathways for GRIN2C
        Hypothetical Network for Drug Addiction
    Alzheimers Disease

    5/9        Reactome Pathways for GRIN2C (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


    5/11         Kegg Pathways  (Kegg details for GRIN2C) (see all 11):
        Calcium signaling pathway
    Neuroactive ligand-receptor interaction
    Circadian entrainment
    Long-term potentiation
    Glutamatergic synapse


    GRIN2C for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GRIN2C

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

    5/52 Interacting proteins for GRIN2C (Q149572, 3 ENSP000002931904) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG4P783522, 3MINT-1900102 MINT-1900873 MINT-1901291 MINT-1901315 I2D: score=7 
    IL16Q140053, ENSP000003029354I2D: score=4 STRING: ENSP00000302935
    DLG3Q927963, ENSP000003634804I2D: score=2 STRING: ENSP00000363480
    ERBB2IPQ96RT13, ENSP000003703304I2D: score=2 STRING: ENSP00000370330
    INADLQ8NI353, ENSP000003602004I2D: score=2 STRING: ENSP00000360200
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9798920
    GO:0007215glutamate receptor signaling pathway TAS9798920
    GO:0007268synaptic transmission TAS--
    GO:0008104protein localization IEA--
    GO:0009611response to wounding IEA--

    GRIN2C for ontologies           About GeneDecksing



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

    GRIN2C for compounds           About GeneDecksing

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

    Compounds for GRIN2C available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DL-AP5 Sodium saltSodium salt of DL-AP5 (Cat. No. 0105)[1303993-72-7]
    (+)-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]
    QNZ 46NR2C/NR2D-selective NMDA receptor non-competitive antagonist[1237744-13-6]
    DL-AP5 Potent, selective NMDA antagonist [76326-31-3]

    3 HMDB Compounds for GRIN2C    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--

    4 DrugBank Compounds for GRIN2C    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Glycine2-Aminoacetic acid (see all 4)56-40-6target--17139284 11861317 9073168 8955518 17016423
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17139284 17016423 7905294 10455281 9417820
    Meperidine-- 57-42-1targetantagonist10735801
    Tenocyclidine-- 21500-98-1targetantagonist2538766

    10/33 IUPHAR Ligands for GRIN2C (GluN2C) (see all 33)    About this table 
    LigandTypeActionAffinityPubmed IDs
    phencyclidine
    Channel blockerNone--
    [3H]CGP39653
    NoneNone--
    LY233053
    AntagonistAntagonist--
    D-aspartate
    AgonistAgonist--
    L701324
    AntagonistAntagonist--
    glycine
    AgonistAgonist--
    Mg2+
    Channel blockerNone--
    MK-801
    Channel blockerNone--
    CGP37849
    AntagonistAntagonist--
    [3H]glycine
    NoneNone--

    4 Novoseek inferred chemical compound relationships for GRIN2C gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nmda 76.9 26 16989781 (2), 16606616 (2), 10436042 (1), 9037519 (1) (see all 20)
    glutamate 59.1 3 16211366 (1), 11058479 (1), 8027771 (1)
    kainate 54.4 1 18462708 (1)
    magnesium 13.2 1 16372011 (1)

    Search CenterWatch for drugs/clinical trials and news about GRIN2C / NMDE3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for GRIN2C gene (2 alternative transcripts): 
    NM_000835.4  NM_001278553.1  

    Unigene Cluster for GRIN2C:

    Glutamate receptor, ionotropic, N-methyl D-aspartate 2C
    Hs.436980  [show with all ESTs]
    Unigene Representative Sequence: AB208799
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000293190(uc002jlt.1 uc010wrh.1) ENST00000584176(uc002jlv.1)
    ENST00000347612(uc002jlu.1) ENST00000578159 ENST00000584496
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB208799.1 BC031077.1 BC041128.1 BC059384.1 BC140801.1 BC144586.1 L76224.1 U77782.1 

    6 DOTS entries:

    DT.209713  DT.101964990  DT.40302770  DT.70100279  DT.95154273  DT.75139422 

    24/39 AceView cDNA sequences (see all 39):

    BC041128 BX096031 BM665652 BQ184546 BG150328 U77782 NM_000835 AI937054 
    R88090 L76224 CD675565 BM686026 BC031077 AL043138 AI964061 CD672417 
    BC059384 BF594520 AW950843 BE466191 AI825597 BI598195 BI598245 BI000241 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for GRIN2C    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14
    SP1:                                -                                                     -                             -         
    SP2:              -     -           -                                                     -                                       
    SP3:                                                                                                                              
    SP4:              -     -                                                                                                         
    SP5:                          -     -     -     -                                                                                 


    ECgene alternative splicing isoforms for GRIN2C

    (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

    GRIN2C expression in normal human tissues (normalized intensities)      GRIN2C embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GRIN2C Expression
    About this image


    GRIN2C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
             Thalamus
             cerebellum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   

     -- (Endocrine System)
             Pituitary gland   

    See GRIN2C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GRIN2C

    SOURCE GeneReport for Unigene cluster: Hs.436980

    UniProtKB/Swiss-Prot: NMDE3_HUMAN, Q14957
    Tissue specificity: Mainly expressed in brain with predominant expression is in the cerebellum, also present in
    the hippocampus, amygdala, caudate nucleus, corpus callosum, subthalamic nuclei and thalamus. Detected in the
    heart, skeletal muscle and pancreas

        SABiosciences Expression via Pathway-Focused PCR Arrays including GRIN2C: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat
              Synaptic Plasticity in human mouse rat

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    (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 animals.

    Orthologs for GRIN2C gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Grin2c1 , 5 glutamate receptor, ionotropic, NMDA2C (epsilon 3)1, 5 85.92(n)1
    89.72(a)1
      11 (80.80 cM)5
    148131  NM_010350.21  NP_034480.21 
     1152491695 
    chicken
    (Gallus gallus)
    Aves LOC4310901 glutamate [NMDA] receptor subunit epsilon-3-like 80.59(n)
    79.43(a)
      431090  XM_003642367.1  XP_003642415.1 
    lizard
    (Anolis carolinensis)
    Reptilia GRIN2C6
    Uncharacterized protein
    57(a)
    1 ↔ 1
    2(115432822-115546688)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003336481 glutamate [NMDA] receptor subunit epsilon-3-like 69.25(n)
    70.67(a)
      100333648  XM_002663984.1  XP_002664030.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nmdar23 N-methyl-D-aspartate selective
    glutamate receptor
    31(a)   2B1   --
    worm
    (Caenorhabditis elegans)
    Secernentea nmr-26
    Protein NMR-2, isoform a
    25(a)
    1 → many
    V(15005938-15011660)


    ENSEMBL Gene Tree for GRIN2C (if available)
    TreeFam Gene Tree for GRIN2C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GRIN2C gene
    GRIA32  GRIN2D2  GRIK12  GRIA22  GRIN12  GRIK22  GRIA12  GRIK42  
    GRIK32  GRIN3A2  GRIN2B2  GRIN2A2  GRIK52  GRIN3B2  GRIA42  GRID12  
    GRID22  
    6 SIMAP similar genes for GRIN2C using alignment to 3 protein entries:     NMDE3_HUMAN (see all proteins):
    NMDAR2C    GRIN2B    GRIN2A    NR2A    GRIN2D    GRID2

    GRIN2C for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/520 SNPs in GRIN2C are shown (see all 520)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1843554461,2
    --72837682(+) GCCTCA/GTGTGT 1 -- int10--------
    rs1891483051,2
    C--72837706(+) AATGCA/GGCCAG 1 -- int10--------
    rs1419513541,2
    --72837794(+) AGGGCA/GTCCCT 1 -- int10--------
    rs1500973321,2
    --72837816(+) CAGGA-/CCCCC 
            
    CAGCC
    1 -- int10--------
    rs99012831,2
    C,F,A,H--72837832(+) CCCTGG/ACACAA 1 -- int125Minor allele frequency- A:0.45NS EA NA WA CSA 2536
    rs98932411,2
    C,F,H--72837930(+) AGGATG/AGGTGG 1 -- int15Minor allele frequency- A:0.01NS EA NA 536
    rs1170736491,2
    F--72838163(+) AGTGTG/ATTGTA 1 -- int11Minor allele frequency- A:0.01EA 120
    rs1472868231,2
    C--72838189(+) GTCCCA/GGTGCT 1 -- ut310--------
    rs10471811,2
    F--72838282(+) AGCAGC/G/TCATGA 2 -- ut31 ese31MN 184
    rs1393727361,2
    --72838373(+) TGAGAA/CGAGGA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for GRIN2C (72838162 - 72857627 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for GRIN2C:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv518292CNV Loss19592680
    nsv833540CNV Loss17160897
    dgv3253n71CNV Loss21882294
    nsv908744CNV Loss21882294
    dgv3254n71CNV Loss21882294
    nsv519902CNV Loss19592680
    nsv908743CNV Loss21882294


    Human Gene Mutation Database (HGMD): GRIN2C
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 138254    OMIM disorders: --

    15 diseases for GRIN2C:    About MalaCards
    paine syndrome    toxic encephalopathy    hiv type 1    amyotrophic lateral sclerosis
    lateral sclerosis    bipolar disorder    huntington's disease    neuronitis
    osteosarcoma    neuroblastoma    ischemia    schizophrenia
    alcoholism    endotheliitis    alzheimer's disease

    2 diseases from the University of Copenhagen DISEASES database for GRIN2C:
    Schizophrenia     Toxic encephalopathy

    GRIN2C for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): GRIN2C
    Human Genome Epidemiology (HuGE) Navigator: GRIN2C (6 documents)

    Export disorders for GRIN2C 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 GRIN2C gene, integrated from 9 sources (see all 107):
    (articles sorted by number of sources associating them with GRIN2C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the cDNA for the human NMDA receptor NR2C subunit and its expression in the central nervous system and periphery. (PubMed id 9037519)1, 2, 9 Lin Y.J.... Giordano T. (1996)
    2. 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, 9 Kalsi G....Gurling H. (1998)
    3. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PubMed id 19156168)1, 4 Need A.C....Goldstein D.B. (2009)
    4. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (2009)
    5. Neurotransmission and bipolar disorder: A systematic family-based association study. (PubMed id 18444252)1, 4 Shi J....Liu C. (2008)
    6. 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)
    7. Elevated levels of the NR2C subunit of the NMDA receptor in the locus coeruleus in depression. (PubMed id 15920498)1, 9 Karolewicz B....Ordway G.A. (2005)
    8. Regulation of NR1/NR2C N-methyl-D-aspartate (NMDA) receptors by phosphorylation. (PubMed id 16606616)1, 9 Chen B.S....Roche K.W. (2006)
    9. Differential expression of five N-methyl-D-aspartate receptor subunit mRNAs in vasopressin and oxytocin neuroendocrine cells. (PubMed id 9073168)7, 9 Al-Ghoul W.M....Greenwood R.S. (1997)
    10. The human N-methyl-D-aspartate receptor 2C subunit: genomic analysis, distribution in human brain, and functional expression. (PubMed id 9798920)1, 9 Daggett L.P....Velicelebi G. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 2905 HGNC: 4587 AceView: GRIN2C Ensembl:ENSG00000161509 euGenes: HUgn2905
    ECgene: GRIN2C Kegg: 2905 H-InvDB: GRIN2C

    (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 GRIN2C 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 GRIN2C gene:
    Search GeneIP for patents involving GRIN2C

    Licensable Technologies for GRIN2C 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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    About This Section

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