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FLASH GENE
Symbol GRIN2B contributors: mct - updated : 08-10-2015
HGNC name glutamate receptor, ionotropic, N-methyl D-aspartate 2B
HGNC id 4586
Corresponding disease
EIEE27 epileptic encephalopathy, early infantile, 27
MRD6 mental retardation, autosomal dominant 6
Location 12p13.1      Physical location : 13.714.409 - 14.133.022
Synonym name
  • N-methyl-D-aspartate receptor subunit 3
  • glutamate [NMDA] receptor subunit epsilon-2
  • Synonym symbol(s) NMDAR2B, NR2B, NME2, MGC142180, NR3, MGC142178, EIEE27, GluN2B, MRD6, hNR3, GLURE2
    DNA
    TYPE functioning gene
    STRUCTURE 418.61 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOH12CR1 12p12 loss of heterozygosity, 12, chromosomal region 1 LOC387840 12 LOC387840 DUSP16 12p13-p12 dual specificity phosphatase 16 LOC390296 12 similar to hypothetical protein CREBL2 12p13.2-p13.1 cAMP responsive element binding protein-like 2 GPR19 12p12.3 G protein-coupled receptor 19 CDKN1B 12p13.1-p12 cyclin-dependent kinase inhibitor 1B (p27, Kip1) DKFZP434F0318 12p13.2 hypothetical protein DKFZp434F0318 DDX47 12p13.2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 LOC341465 12p13.2 similar to 40S ribosomal protein S6 (Phosphoprotein NP33) LOC387841 12 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein RAI3 12p13-p12.3 retinoic acid induced 3 GPRC5D 12p13.3 G protein-coupled receptor, family C, group 5, member D HEBP1 12p13.2 heme binding protein 1 LOC387842 12 similar to 5-hydroxytryptamine receptor 7 isoform a; serotonin 5-HT-7 receptor KIAA1467 12p13.2 KIAA1467 protein GSG1 12p13.31 germ cell associated 1 EMP1 12p12.3 epithelial membrane protein 1 FLJ33810 12p13.2 hypothetical protein FLJ33810 GRIN2B 12p12 glutamate receptor, ionotropic, N-methyl D-aspartate 2B ATF7IP 12p13.31 activating transcription factor 7 interacting protein FLJ22662 12p13.2 hypothetical protein FLJ22662 GUCY2C 12p12 guanylate cyclase 2C (heat stable enterotoxin receptor)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 5941 - 1484 - 2001 11400170
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainbasal nuclei  lowly
     brainforebraincerebral cortexfrontal 
     brainforebraincerebral cortexparietal 
     brainforebraincerebral cortextemporal 
     braindiencephalonhypothalamussuprachiasmatic nuclei  Homo sapiens
     nervecranial nerve   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneT cell
    Nervousglia
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, neonatal
    Text hippocampus, forebrain, brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a large intracellular C terminal domain
  • four transmembrane segments (4TM)
  • conjugated GlycoP
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Grin2b
    Homologene
    FAMILY
  • glutamate-regulated family of ion channels
  • CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • post synaptic membrane
  • predominant at asymmetrical synapses of non-GABAergic neurons
  • basic FUNCTION
  • involved in excitatory neurotransmission, in neuronal cell death and in the epileptic hyperexcitability of dysplastic cortical regions
  • involved in controlling T cell activation
  • ligand-gated ion channel (Ca2+) transporting, when bound to glutamate and Mg2+ released
  • playing a central role in long potentiation memory, and cognitive function
  • with GRIA2, GRIA3, GRIA1, mediate fast synaptic transmission in the brain
  • 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
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS development , nervous system
    text small molecule transport
    PATHWAY
    metabolism
    signaling neurotransmission
    glutamate signaling pathway/excitatory neurotransmission
    a component
  • N-methyl D-aspartate receptor 2, epsilon 2 subunit glutamate receptor
  • heterodimers composed of the key receptor subunit GRIN1 and one or more of the four NMDAR2 subunits (GRIN2A, GRIN 2B, GRIN 2C, GRIN2D)
  • dimer of GRIN1-GRIN2B heterodimers with the twofold symmetry axis running through the entire molecule composed of an amino terminal domain (ATD), a ligand-binding domain (LBD), and a transmembrane domain (TMD)
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Mg2+
  • protein
  • NRF1 co-regulates oxidative enzymes that generate energy and neurochemicals that consume energy related to glutamatergic neurotransmission, such as KIF17, GRIN1, and GRIN2B, thereby ensuring that energy production matches energy utilization at the molecular and cellular levels
  • 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
  • stable interaction between the PH domain of KALRN and the juxtamembrane region of GRIN2B preceding its cytosolic C-terminal domain
  • novel and functionally important interaction between the NR2B subunit of the NMDA receptor and KALRNn, proteins known to be essential for normal synaptic plasticity
  • DLG4 associated with NMDA receptors GRIN2A, GRIN2B via their PDZ1 and PDZ2 domains
  • TSPYL2 regulated the expression of GRIN2A and GRIN2B
  • both ARF6 activation through GRIN2B-IQSEC2 during early development and the transition from IQSEC2- to IQSEC1-dependent ARF6 signaling induced by the GRIN2B subunit switch are critical for the development of mature glutamatergic synapses
  • cell & other
    REGULATION
    activated by selectively activated by the artificial glutamate analog N-methyl D-aspartate
    Other regulated by complex TBR1/CASK/TAF9 (transcriptional complex regulating expression of the GRIN2B)
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD6 , EIEE27
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in a schizophrenia-like syndrome produced by NMDA receptor antagonists
    constitutional germinal mutation      
    in individuals with mental retardation
    constitutional germinal mutation      
    sporadic autistic disorder
    constitutional       loss of function
    GRIN2B and GRIN2D-deficiency protected retinal ganglion cells (RGCs) from NMDA-induced excitotoxic retinal cell death
    Susceptibility to schizophrenia
    Variant & Polymorphism other polymorphism G1001C of GRIN1 asssociated to allele T4197C and T5988C of GRIN2B increasing the risk of schizophrenia
    Candidate gene for bipolar disorder in Ashkenazim
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialvisual 
    GRIN2B and GRIN2D activity is a potential therapeutic strategy for the treatment of several retinal diseases
    ANIMAL & CELL MODELS
  • Nmdar 2b knock out mice
  • mutant mice expressing the Nmdar 2b gene without the large intracellular C terminal domain
  • transgenic mice overexpressing the Nmdar 2b gene
  • phenotype of Grin2b-deficient mice is more severe, as they die perinatally due to severe developmental brain defects