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FLASH GENE
Symbol GRIN2A contributors: mct - updated : 28-08-2017
HGNC name glutamate receptor, ionotropic, N-methyl D-aspartate 2A
HGNC id 4585
Corresponding disease
EPND epilepsy with neurodevelopmental defects
Location 16p13.2      Physical location : 9.847.266 - 10.276.611
Synonym name
  • N-methyl-D-aspartate receptor channel, subunit epsilon-1
  • N-methyl-D-aspartate receptor subunit 2A
  • NMDA receptor subtype 2A
  • Synonym symbol(s) NR2A, NMDAR2A
    DNA
    TYPE functioning gene
    STRUCTURE 429.35 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC390673 16 similar to 40S ribosomal protein S14 LOC283953 16p13.2 similar to RIKEN cDNA 4930511J11 MGC2654 16p13.2 hypothetical protein MGC2654 ABAT 16p13.3 4-aminobutyrate aminotransferase DKFZP564K2062 16p13.13-p12.3 DKFZP564K2062 protein PMM2 16p13.2 phosphomannomutase 2 CARHSP1 16p13.3 calcium regulated heat stable protein 1, 24kDa USP7 16p13.3 ubiquitin specific protease 7 (herpes virus-associated) PRO0149 16p13.2 PRO0149 protein GRIN2A 16p13.2 glutamate receptor, ionotropic, N-methyl D-aspartate 2A ATF7IP2 16p13.2 activating transcription factor 7 interacting protein 2 EMP2 16p13.2 epithelial membrane protein 2 FLJ32871 16p13.2 hypothetical protein FLJ32871 NUBP1 16p13.1 nucleotide binding protein 1 (MinD homolog, E. coli) LOC283816 16p13.2 similar to ARHGAP21 protein MHC2TA 16p13 MHC class II transactivator DEXI 16p13.2 dexamethasone-induced transcript KIAA0350 16p13.13-p13.3 dexamethasone-induced transcript LOC390674 16 similar to Heterogeneous nuclear ribonucleoproteins C1/C2 (hnRNP C1 / hnRNP C2) SOCS1 16p13.13 suppressor of cytokine signaling 1 TNP2 16p13.13 transition protein 2 (during histone to protamine replacement) PRM2 16p13.13 protamine 2 PRM1 16p13.13 protamine 1 MGC24665 16p13.2 hypothetical protein MGC24665 LOC388210 16 similar to CG15828-PA LOC388211 16 hypothetical gene supported by AK126539
    RNA
    TRANSCRIPTS type messenger
    text variants 1 and 2 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 14706 163 1464 - 2008 18178157
    14 - 14468 163 1464 - 2008 18178157
    14 - 4745 - 1281 - 2008 18178157
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx    
    Nervousbrain    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousglia
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four transmembrane segments (4TM)
  • a large intracellular C terminal domain with 25 tyrosine residues
  • conjugated GlycoP
    mono polymer heteromer , dimer
    isoforms Precursor
    HOMOLOGY
    interspecies ortholog to murine Grin2a
    Homologene
    FAMILY
  • ligand-gated ionic channels family
  • epsilon subfamily
  • glutamate-regulated superfamily of ion channels
  • CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text post-synaptic membrane
    basic FUNCTION
  • involved in excitatory neurotransmission, in neuronal cell death and in the epileptic hyperexcitability of dysplastic cortical regions
  • 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
  • Tyr 1325 phosphorylation regulates NMDA receptor channel properties and the GRIN2A-mediated downstream signalling to modulate depression-related behaviour
  • play a major role in melanoma
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS nervous system
    text
  • small molecule transport
  • development nervous system
  • PATHWAY
    metabolism
    signaling neurotransmission
    glutamate signaling pathway/excitatory neurotransmission
    a component
  • heterodimerizing with GRIN1
  • N-methyl D-aspartate receptor 2, epsilon 1 subunit glutamate receptor
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Mg2+ blocking the NMDA receptor in the depolarized postsynaptic membrane
  • protein
  • KIF17 differentially maintains the levels of GRIN2A and GRIN2B, and, when synapses are stimulated, the GRIN2B/KIF17 complex is upregulated on demand through CREB activity
  • DLG4 associated with NMDA receptors GRIN2A, GRIN2B via their PDZ1 and PDZ2 domains
  • TSPYL2 regulated the expression of GRIN2A and GRIN2B
  • cell & other
    REGULATION
    activated by selectively activated by the artificial glutamate analog N-methyl D-aspartate
    Other abundantly tyrosine-phosphorylated by the Src family kinases (Tyr 1292, Tyr 1325, and Tyr 1387 are reported to be major phosphorylation site)
    ASSOCIATED DISORDERS
    corresponding disease(s) EPND
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in early-onset epileptic encephalopathy
    Susceptibility
  • to bipolar disorder
  • to autism
  • to schizophrenia
  • to melanoma
  • to idiopathic focal epilepsy with rolandic spikes (pMID: 23933819)
  • Variant & Polymorphism SNP , other
  • increasing the risk of autism
  • (GT)n polymorphism in the promoter may play a significant role in the etiology of schizophrenia
  • Candidate gene
    Marker
    Therapy target
  • dorsal vagal complex GRIN2A, GRIN1 can serve as a potential therapeutic target for diabetes and obesity
  • ANIMAL & CELL MODELS
  • GRIN2A knockout mice and mice expressing GRIN2A without the large intracellular C terminal domain
  • mice carrying a mutation at Tyr 1325 phosphorylation site (YF/YF mice) showed reduced depression-related behaviour