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FLASH GENE
Symbol GRIN2D contributors: mct - updated : 16-11-2016
HGNC name glutamate receptor, ionotropic, N-methyl D-aspartate 2D
HGNC id 4588
Corresponding disease
EIEE46 epileptic encephalopathy, early infantile, 46
Location 19q13.33      Physical location : 48.898.131 - 48.948.187
Synonym name
  • estrogen receptor binding cpG island
  • N-methyl-d-aspartate receptor subunit 2D
  • glutamate [NMDA] receptor subunit epsilon-4
  • Synonym symbol(s) EB11, NME4, NMDAR2D, NR2D, GluN2D, GLURE4
    DNA
    TYPE functioning gene
    STRUCTURE 50.06 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   hormone
    text structure
  • half-palindromic
  • estrogen-responsive elements (EREs)
  • MAPPING cloned Y linked   status confirmed
    Physical map
    SULT2A1 19q13.3 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA) -preferring, member 1 ELSPBP1 19q13.33 epididymal sperm binding protein 1 CABP5 19q13.3 calcium binding protein 5 PLA2G4C 19q13.3 phospholipase A2, group IVC (cytosolic, calcium-independent) LIG1 19q13.3 ligase I, DNA, ATP-dependent LOC374920 19q13.33 hypothetical protein LOC374920 CARD8 19q13.33 caspase recruitment domain family, member 8 MGC17986 19q13.33 hypothetical protein MGC17986 FLJ32926 19q13.33 hypothetical protein FLJ32926 EMP3 19q13.3 epithelial membrane protein 3 FLJ10922 19q13.33 hypothetical protein FLJ10922 SYNGR4 19q13.3 synaptogyrin 4 KDELR1 19q13.2-q13.3 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 GRIN2D 19q13.1-qter glutamate receptor, ionotropic, N-methyl D-aspartate 2D GRWD1 19q13.33 glutamate-rich WD repeat containing 1 KCNJ14 19q13 potassium inwardly-rectifying channel, subfamily J, member 14 PSCD2 19q13.3 pleckstrin homology, Sec7 and coiled-coil domains 2 (cytohesin-2) KIAA1883 SULT2B1 19q13.3 sulfotransferase family, cytosolic, 2B, member 1 FLJ20200 19q13.33 hypothetical protein FLJ20200 SPACA4 19q13.3-14 sperm acrosome associated 4 RPL18 19q13.3 ribosomal protein L18 SPHK2 19q13.2 sphingosine kinase 2 DBP 19q13.3 D site of albumin promoter (albumin D-box) binding protein CA11 19q13.3 carbonic anhydrase XI LOC126147 19q13.33 hypothetical protein BC018697 FUT2 19q13.3 fucosyltransferase 2 (secretor status included) FLJ36070 19q13.33 hypothetical protein FLJ36070 RAIN 19q13.33 Ras-interacting protein MGC34799 19q13.33 hypothetical protein MGC34799 FUT1 19q13.3 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 5109 141.3 1336 - 1998 9489750
    - - 6000 - - osteosarcoma cell line 1998 9418891
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainmidbrainsubstantia nigra predominantly Homo sapiens
     brainbasal nucleiglobus pallidus predominantly Homo sapiens
     braindiencephalonhypothalamussuprachiasmatic nucleimoderately Homo sapiens
     brainbasal nucleistriatum predominantly Homo sapiens
     brainlimbic systemhippocampus highly Mus musculus
    Reproductivefemale systembreastmammary gland highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    Skin/Tegumentkeratinocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four transmembrane domains
  • conjugated GlycoP
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to rattus Grin2d
    ortholog to murine Grin2d
    Homologene
    FAMILY
  • glutamate-regulated family of ion channels
  • CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
    text
  • postsynaptic membrane
  • selective to asymmetrical synapses of GABAergic neurons
  • basic FUNCTION
  • involved in excitatory neurotransmission and in neuronal cell death
  • playing a central role in long potentiation, verbal long potentiation memory and cognitive function
  • ligand-gated ion channel (Ca2+) transporting, when bound to glutamate and Mg2+ released
  • activity of the GRIN1/GRIN2D NMDA receptor is controlled distinctively by the endogenous neurotransmitter L-glutamate
  • role for GRIN2D-containing NMDARs and adaptive changes in experimental Parkinsonism
  • GRIN2B, GRIN2D play counteractive roles in temporal development and maturation of somatosensory maps without affecting the magnitude of critical period plasticity
  • GRIN2B expressed at glutamatergic synapses on glutamatergic projection neurons facilitates refinement of ascending pathway synapses directly, whereas GRIN2D expressed at glutamatergic synapses on GABAergic interneurons delays it indirectly
  • role for GRIN2D in endothelial function and angiogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , nervous system
    text
  • ion transport
  • PATHWAY
    metabolism
    signaling neurotransmission
    a component
  • heterodimerizing with GRIN1
  • N-methyl D-aspartate receptor 2, epsilon 4 subunit glutamate receptor
  • heteromers composed of the key receptor subunit GRIN1 and one or more of the four NMDAR2 subunits (GRIN2A, GRIN2B, GRIN2C, GRIN2D)
  • GRIN2D-containing NMDARs participate likely in excitatory synaptic transmission onto hippocampal interneurons
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Mg2+
  • Ca2+
  • protein
  • PLAT influences spatial memory through its preferential interaction with GRIN2D subunit-containing NMDARs
  • DOCK3, a guanine nucleotide exchange factor, binds to the GRIN2D C-terminal domain and reduces the surface expression of GRIN2D, thereby protecting retinal ganglion cells (RGCs) from excitotoxicity
  • cell & other
    REGULATION
    activated by the artificial glutamate analog N-methyl D-aspartate (selectively)
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE46
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    GRIN2B and GRIN2D-deficiency protected retinal ganglion cells (RGCs) from NMDA-induced excitotoxic retinal cell death
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • its expression was shown be predictive of improved survival in CRC
  • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    promising target for the future treatment of colorectal cancer
    neurologyneurodegenerativeParkinson/dementia Parkinsonism
    may represent potential therapeutic targets for modulating subthalamic neuron activity in neurological disorders such as Parkinson disease
    neurologyneurodegenerativealzheimer
    GRIN2D and DOCK3 might be potential therapeutic targets for treating neurodegenerative diseases such as Alzheimer disease
    neurosensorialvisual 
    GRIN2D and DOCK3 might be potential therapeutic targets for treating normal tension glaucoma
    ANIMAL & CELL MODELS
    Nmdar 2d knock out mice