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FLASH GENE
Symbol GRIN2C contributors: mct - updated : 13-03-2012
HGNC name glutamate receptor, ionotropic, N-methyl D-aspartate 2C
HGNC id 4587
Location 17q25.1      Physical location : 72.838.167 - 72.856.007
Synonym name
  • N-methyl-D-aspartate receptor subunit 2C
  • glutamate [NMDA] receptor subunit epsilon-3
  • Synonym symbol(s) NMDAR2C, NR2C, GluN2C
    DNA
    TYPE functioning gene
    STRUCTURE 17.84 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    RPL38 17q22 ribosomal protein L38 TTYH2 17q24 Tweety homolog 2 (Drosophila) DNAI2 17q25 dynein, axonemal, intermediate polypeptide 2 FLJ37300 17q25.2 hypothetical protein FLJ37300 LOC388419 17 similar to galectin 3 binding protein; L3 antigen; Mac-2-binding protein; serum protein 90K GPR142 17q25.2 G protein-coupled receptor 142 GPRC5C 17q25 G protein-coupled receptor, family C, group 5, member C CMRF-35H 17q25.2 leukocyte membrane antigen TREM5 17q25 leukocyte membrane antigen CMRF35 17q25.2 leukocyte membrane antigen LOC342509 17q25.2 similar to CMRF35 antigen precursor (CMRF-35) FLJ31882 17q25.2 hypothetical protein FLJ31882 LOC390813 17 similar to NKIR protein IREM2 17q25.2 immune receptor expressed on myeloid cells 2 RAB37 17q25.2 RAB37, member of RAS oncogene family NKIR 17q25.2 NK inhibitory receptor precursor SLC9A3R1 17q24.2-q24.3 solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1 DKFZP564C103 17q25.2 DKFZP564C103 protein FLJ20255 17q25.2 hypothetical protein FLJ20255 GRIN2C 17q25 glutamate receptor, ionotropic, N-methyl D-aspartate 2C FDXR 17q24-q25 ferredoxin reductase LOC283985 17q25.2 similar to delta 5 fatty acid desaturase USH1G 17q25.2 Usher syndrome 1G (autosomal recessive) OTOP2 17q25.2 otopetrin 2 OTOP3 17q25.2 otopetrin 3 C17orf28 17q25.1 chromosome 17 open reading frame 28 HUMPPA 17q25.2 paraneoplastic antigen ICT1 17q25.2 immature colon carcinoma transcript 1 ATP5H 12q13 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d LOC390814 17 similar to Hypothetical protein KIAA0176 SLC16A5 17q25.3 solute carrier family 16 (monocarboxylic acid transporters), member 5 FLJ22160 17q25.2 hypothetical protein FLJ22160 NT5C 17q25.3 5', 3'-nucleotidase, cytosolic HN1 17q25.2 hematological and neurological expressed 1 SMT3H2 17q25.3 SMT3 suppressor of mif two 3 homolog 2 (yeast) PCNT1 17q25 pericentrin 1 GGA3 17q25.3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 MRPS7 17q23-25 mitochondrial ribosomal protein S7 AD023 17q25.2 AD023 protein SLC25A19 17q25.3 solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 GRB2 17q24.3-q25 growth factor receptor-bound protein 2 KIAA0195 17q25.3 growth factor receptor-bound protein 2 CASKIN2 17q25.3 CASK interacting protein 2
    RNA
    TRANSCRIPTS type messenger
    text four isoforms (NR2C-1 to NR2C-4) (PMID: 9798920)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 4298 - 1233 - 1998 9480759
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrainhindbraincerebellum highly Homo sapiens
     braindiencephalonhypothalamus  
     braindiencephalonamygdala  
     brainbasal nucleicaudate nucleus  
     brainbasal nucleicorpus callosum  
     braindiencephalonthalamus  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • four transmembrane segments (4TM)
  • four hydrophobic regions and a large C terminus
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Grin2c
    homolog to C.elegans Y71f9al.17
    Homologene
    FAMILY
  • ligand-gated ionic channels family
  • post-synaptic membrane (CA2+)
  • CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text post synaptic membrane
    basic FUNCTION
  • involved in excitatory neurotransmission and in neuronal cell death
  • playing a central role in long potentiation, verbal memory and cognitive function
  • ligand-gated ion channel (Ca2+) transporting, when bound to glutamate and Mg2+ released
  • unique role of GRIN2C-containing receptors in associative and executive learning representing a novel therapeutic target for deficits in cognition
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS development , nervous system
    text small molecule transport
    PATHWAY
    metabolism
    signaling neurotransmission
    glutamate signaling pathway
    a component
  • heterodimerizing with GRIN1
  • N-methyl D-aspartate receptor 3, epsilon 3 subunit glutamate receptor
  • heteromers composed of the key receptor subunit GRIN1 and one or more of the four NMDAR2 subunits (GRIN2A, GRIN2B ,GRIN2C and GRIN2D)
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Mg2+
  • protein
  • interacts with the PSD-95 family of PDZ domain-containing proteins but that phosphorylation of Ser(1244) does not influence this PDZ interaction
  • YWHAE is a GRIN2C interactor, whose binding is dependent on S1096 phosphorylation
  • GRIN2C is a novel SNX27-interacting protein, and this interaction is mediated by the PDZ domain of SNX27 and the C-terminal PDZ-binding motif of GRIN2C (SNX27 may function to regulate endocytosis and/or endosomal sorting of GRIN2C)
  • GRIN2C and TIAM1 maturation genes are synergistically controlled by the activity-dependent induction of ETV1 and its phosphorylation by the BDNF signaling cascade
  • cell & other
    REGULATION
    activated by selectively activated by the artificial glutamate analog N-methyl D-aspartate
    Phosphorylated by PKB/Akt, that directly phosphorylates GRIN2C on serine 1096 (S1096)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Nmdar 2C knockout mice
  • mutant mice expressing the Nmdar 2C gene without the large
  • intracellular C terminal domain
  • Grin2c knockout mice were found to exhibit deficits in fear acquisition and working memory compared to wildtype mice