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

GRIN2B Gene

protein-coding   GIFtS: 71
GCID: GC12M013614

glutamate receptor, ionotropic, N-methyl D-aspartate 2B


(Previous symbol: NMDAR2B)
 Explore 53 diseases affiliated with
GRIN2B via our new
 Human Malady Compendium 
Biological research products
for GRIN2B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2B1 2     HNR31
NMDAR2B1 2 3 5     N-Methyl D-Aspartate Receptor Subtype 2B2 3
GluN2B1 2 3     N-Methyl-D-Aspartate Receptor Subunit 32 3
Glutamate [NMDA] Receptor Subunit Epsilon-22 3     MRD62
NR2B2 3     Glutamate Receptor Ionotropic, NMDA 2B2
NR32 3     Glutamate Receptor Subunit Epsilon-22

External Ids:    HGNC: 45861   Entrez Gene: 29042   Ensembl: ENSG000001500867   OMIM: 1382525   UniProtKB: Q132243   

Export aliases for GRIN2B gene to outside databases

Previous GC identifers: GC12M013455 GC12M013858 GC12M013605


(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 GRIN2B:
N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA receptor channel has been
shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic
transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed
of three different subunits: NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The NR2
subunit acts as the agonist binding site for glutamate. This receptor is the predominant excitatory neurotransmitter
receptor in the mammalian brain. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: NMDE2_HUMAN, Q13224
Function: NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent
sensitivity to magnesium. Mediated by glycine. In concert with DAPK1 at extrasynaptic sites, acts as a central
mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity
inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death (By similarity)

summary for GRIN2B:
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 GRIN2B


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009714.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GRIN2B gene promoter:
         AP-1   AP-2alpha isoform 3   ATF-2   AP-2alpha isoform 2   CREB   deltaCREB   c-Jun   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGRIN2B promoter sequence
   Search SABiosciences Chromatin IP Primers for GRIN2B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GRIN2B


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

Entrez Gene cytogenetic band: 12p12   Ensembl cytogenetic band:  12p13.1   HGNC cytogenetic band: 12p12

GRIN2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GRIN2B gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M013614:  view genomic region     (about GC identifiers)

Start:
13,714,144 bp from pter      End:
14,133,053 bp from pter
Size:
418,910 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: NMDE2_HUMAN, Q13224 (See protein sequence)
Recommended Name: Glutamate receptor ionotropic, NMDA 2B precursor  
Size: 1484 amino acids; 166367 Da
Subunit: Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and
a third subunit (GRIN3A or GRIN3B). Found in a complex with GRIN1 and GRIN3B. Found in a complex with GRIN1, GRIN3A
and PPP2CB. Interacts with PDZ domains of INADL and DLG4. Interacts with HIP1 and NETO1 (By similarity). Interacts
with MAGI3. Interacts with DAPK1 (By similarity)
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane;
Multi-pass membrane protein
3 PDB 3D structures from and Proteopedia for GRIN2B:
1S11 (3D)        1S2S (3D)        2IPV (3D)    
Secondary accessions: Q12919 Q13220 Q13225 Q14CU4 Q9UM56

Explore the universe of human proteins at neXtProt for GRIN2B: NX_Q13224

Post-translational modifications:

  • Phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13224

  • GRIN2B Protein expression data from MOPED and PaxDb:    About this image 
    GRIN2B Protein Expression
    REFSEQ proteins: NP_000825.2  
    ENSEMBL proteins: 
     ENSP00000279593  
    Reactome Protein details: Q13224
    Human Recombinant Protein Products for GRIN2B: 
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    Novus Biologicals GRIN2B Protein
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GRIN2B

    Gene Ontology (GO): 5/18 cellular component terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8768735
    GO:0008021synaptic vesicle IEA--
    GO:0009986cell surface ISS--

    GRIN2B for ontologies           About GeneDecksing



    GRIN2B Antibody Products: 
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GRIN2B for domains           About GeneDecksing

    5/6 InterPro domains/families (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 Q13224

    ProtoNet protein and cluster: Q13224

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


    UniProtKB/Swiss-Prot: NMDE2_HUMAN, Q13224
    Similarity: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2B/GRIN2B subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NMDE2_HUMAN, Q13224
    Function: NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent
    sensitivity to magnesium. Mediated by glycine. In concert with DAPK1 at extrasynaptic sites, acts as a central
    mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity
    inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death (By similarity)

         Genatlas biochemistry entry for GRIN2B:
    N-methyl D-aspartate receptor 2,epsilon 2 subunit glutamate receptor,expressed in hippocampal pyramidal cells,neocortex
    and basal ganglia,involved in excitatory neurotransmission,in neuronal cell death and in the epileptic
    hyperexcitability of dysplastic cortical regions,playing a central role in verbal memory and cognitive function

         Gene Ontology (GO): 5/16 molecular function terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004970ionotropic glutamate receptor activity ----
    GO:0004972N-methyl-D-aspartate selective glutamate receptor activity IEA--
    GO:0005102receptor binding ----
    GO:0005234extracellular-glutamate-gated ion channel activity IEA--
    GO:0005261cation channel activity ----
         
    GRIN2B for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for GRIN2B:
     Increased Salmonella enterica   Increased Salmonella enterica   Increased Salmonella enterica   Increased Salmonella enterica  
     Increased Salmonella-containin 

         6 MGI mutant phenotypes (inferred from 11 alleles(MGI details for Grin2b):
     behavior/neurological  growth/size  homeostasis/metabolism  mortality/aging  nervous system 
     no phenotypic analysis 

    GRIN2B for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for GRIN2B: Grin2btm1Mim Grin2btm2Mim Grin2btm1Rsp
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GRIN2B 

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    hsa-miR-642a hsa-miR-1224-3p hsa-miR-516b* hsa-miR-3653 hsa-miR-197 hsa-miR-211 hsa-miR-3154 hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmidGRIN2B 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRIN2B


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/25 super-pathways (see all 25About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1CREB phosphorylation through the activation of CaMKII
    CREB phosphorylation through the activation of CaMKII1.00
    Unblocking of NMDA receptor, glutamate binding and activation0.68
    Ras activation uopn Ca2+ infux through NMDA receptor0.78
    2Post NMDA receptor activation events
    Post NMDA receptor activation events1.00
    CREB phosphorylation through the activation of Ras0.82
    Activation of NMDA receptor upon glutamate binding and postsynaptic events0.89
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses1.00
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Alzheimer's disease0.43
    Alzheimers Disease0.00
    Huntington's disease0.40
    5Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling1.00
    Neurophysiological process_Glutamate regulation of Dopamine D1A receptor signaling0.98

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5 EMD Millipore Pathways for GRIN2B
        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 GRIN2B
        Synaptic Neurotransmission: Glutamatergic Excitation

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GRIN2B (see all 7)
        Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Pathogenesis of ALS
    Intracellular Calcium Signaling
    Huntington's Disease Pathway
    PEDF Induced Signaling

    1 Cell Signaling Technology (CST) Pathway for GRIN2B
        Neuroscience

    3 GeneGo (Thomson Reuters) Pathways for GRIN2B
        Signal transduction Erk Interactions- Inhibition of Erk
    Neurophysiological process PGE2-induced pain processing
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling

    4 BioSystems Pathways for GRIN2B 
        Hypothetical Network for Drug Addiction
    Alzheimers Disease
    Reelin signaling pathway
    ErbB4 signaling events

    5/9        Reactome Pathways for GRIN2B (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


    5/7         Kegg Pathways  (Kegg details for GRIN2B) (see all 7):
        Neuroactive ligand-receptor interaction
    Long-term potentiation
    Glutamatergic synapse
    Alzheimer's disease
    Amyotrophic lateral sclerosis (ALS)


    GRIN2B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GRIN2B

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

    5/252 Interacting proteins for GRIN2B (Q132242, 3 ENSP000002795934) via UniProtKB, MINT, STRING, and/or I2D (see all 252)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAMK2AQ9UQM72, 3, ENSP000003814124MINT-8296785 MINT-8296796 MINT-8296809 I2D: score=6 STRING: ENSP00000381412
    MAGI3Q5TCQ92, 3, ENSP000003046044MINT-1796789 MINT-72931 I2D: score=3 STRING: ENSP00000304604
    DLG4P783522, 3, ENSP000002938134MINT-1899852 MINT-1900667 I2D: score=11 STRING: ENSP00000293813
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    About this table

    Gene Ontology (GO): 5/60 biological process terms (GO ID links to tree view) (see all 60):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001101response to acid ----
    GO:0001508regulation of action potential ----
    GO:0001662behavioral fear response IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0001964startle response IEA--

    GRIN2B for ontologies           About GeneDecksing



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

    GRIN2B for compounds           About GeneDecksing

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

    Compounds for GRIN2B available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Ro 8-4304 hydrochlorideSelective NR2B antagonist[195988-65-9]
    Ro 04-5595 hydrochlorideSelective NR2B antagonist[194089-07-1]
    TCS 46b Orally active, subtype-selective NR1A/NR2B antagonist [302799-86-6]
    SDZ 220-581Competitive NMDA antagonist[174575-17-8]
    Ro 25-6981 maleateSubtype-selective NR2B antagonist[169274-78-6]

    4 HMDB Compounds for GRIN2B    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    LoperamideApo-Loperamide (see all 10)53179-11-6--
    MagnesiumMagnesium (see all 2)7439-95-4--

    6 DrugBank Compounds for GRIN2B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Haloperidol-- 52-86-8targetantagonist11752352 17588330 17092607 11102491 11741727 9572299 16407246
    Felbamate-- 25451-15-4targetantagonist18253065 10215667 11752352 18311896 10690753
    MemantineMemantina [INN-Spanish] (see all 5)19982-08-2targetantagonist16009352 14530799 11854433 9120573 15452358
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17662248 17229973
    Meperidine-- 57-42-1targetantagonist10735801
    Tenocyclidine-- 21500-98-1targetantagonist2538766

    10/17 Novoseek chemical compound relationships for GRIN2B gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nmda 89.8 215 14499953 (4), 10764765 (3), 11841566 (3), 15629759 (3) (see all 99)
    glutamate 72.2 33 15083261 (2), 14662797 (2), 9100675 (2), 19324536 (2) (see all 21)
    ifenprodil 69 4 15054078 (1), 15857299 (1), 16962290 (1), 16870468 (1)
    kainate 56.3 3 11334999 (1), 12535174 (1), 18462708 (1)
    tyrosine 37.8 43 11501177 (6), 11483655 (4), 9645956 (2), 19864302 (2) (see all 19)
    clozapine 31.3 7 11807413 (3), 12853100 (1)
    ethanol 26.4 16 14499953 (4), 15755907 (3), 12787828 (2), 19350219 (1) (see all 6)
    ketamine 24.6 6 19815434 (1), 11501177 (1)
    calcium 15.2 8 10764765 (2), 17908242 (1), 14706619 (1), 19756518 (1) (see all 5)
    serine 14.5 2 16266783 (1), 11823786 (1)

    Search CenterWatch for drugs/clinical trials and news about GRIN2B / NMDE2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GRIN2B gene: 
    NM_000834.3  

    Unigene Cluster for GRIN2B:

    Glutamate receptor, ionotropic, N-methyl D-aspartate 2B
    Hs.654430  [show with all ESTs]
    Unigene Representative Sequence: U88963
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000279593(uc001rbt.2)

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    hsa-miR-642a hsa-miR-1224-3p hsa-miR-516b* hsa-miR-3653 hsa-miR-197 hsa-miR-211 hsa-miR-3154 hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmidGRIN2B 3' UTR sequence
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    Additional cDNA sequence: 

    AB208850.1 BC113618.1 BC113620.1 U11287.1 U28758.1 U28861.1 U28862.1 U88963.1 
    U90278.1 

    2 DOTS entries:

    DT.404681  DT.91936890 

    14 AceView cDNA sequences:

    U90278 NM_000834 BE382323 BX280447 U88963 AA770476 U28861 U11287 
    U28758 U28862 BF763635 BF952993 AW627983 BE702462 

    GeneLoc Exon Structure


    (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

    GRIN2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTCTTTTGC
    GRIN2B Expression
    About this image
    See GRIN2B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GRIN2B

    SOURCE GeneReport for Unigene cluster: Hs.654430

    UniProtKB/Swiss-Prot: NMDE2_HUMAN, Q13224
    Tissue specificity: Primarily found in the fronto-parieto-temporal cortex and hippocampus pyramidal cells, lower
    expression in the basal ganglia

        SABiosciences Expression via Pathway-Focused PCR Arrays including GRIN2B: 
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              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 chordates.

    Orthologs for GRIN2B gene from 3/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves GRIN2B1 glutamate receptor, ionotropic, N-methyl D-aspartate more 86.1(n)
    94.07(a)
      417965  XM_416204.2  XP_416204.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    92(a)
    89(a)
    1 ↔ many
    1 ↔ many
    GL343397.1(285991-479343)
    GL343397.1(496517-506948)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5599761 similar to glutamate receptor, ionotropic, NMDA2B (epsilon more 68.88(n)
    74.24(a)
      559976  NM_001128337.1  NP_001121809.1 


    ENSEMBL Gene Tree for GRIN2B (if available)
    TreeFam Gene Tree for GRIN2B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GRIN2B gene
    GRIA32  GRIN2D2  GRIK12  GRIA22  GRIK22  GRIN12  GRIA12  GRIK32  
    GRIK42  GRIN3A2  GRIN2A2  GRIK52  GRIN3B2  GRIA42  GRIN2C2  GRID12  
    GRID22  
    5 SIMAP similar genes for GRIN2B using alignment to 1 protein entry:     NMDE2_HUMAN:
    GRIN2C    GRIN2D    NMDAR2C    GRIN2A    NR2A

    GRIN2B for paralogs           About GeneDecksing



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

    10/7779 NCBI SNPs in GRIN2B are shown (see all 7779    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18055011,2
    C,F,H--13479507(+) TCTCAA/GTTTTC 1 -- ds50014Minor allele frequency- G:0.01NS EA 420
    rs1893051901,2
    C--13479571(+) TTATAC/TATGTA 1 -- ds50010--------
    rs1820154771,2
    C--13479595(+) TCCTCA/TATGGT 1 -- ds50010--------
    rs1512703741,2
    C--13479935(+) CCCCTC/GTCTCA 1 -- ut310--------
    rs1408453061,2
    C--13479986(+) GCTTCA/GTTCTT 1 -- ut310--------
    rs1459528351,2
    C--13480012(+) AGTCGA/GGAGTC 1 -- ut310--------
    rs1389714261,2
    C--13480196(+) CTCACC/TGCCTT 1 -- ut310--------
    rs798942321,2
    C--13480426(+) ATGAAC/TACACA 1 -- ut311Minor allele frequency- T:0.01WA 118
    rs1829493811,2
    C--13480437(+) TGCACA/GCACAA 1 -- ut310--------
    rs1428513751,2
    C--13480487(+) CATAAC/TGTACT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for GRIN2B (13714144 - 13964144 bp, first 250kb of GRIN2B)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for GRIN2B
         3 Indels: 39881 41391 39880
    Human Gene Mutation Database (HGMD): GRIN2B

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    GRIN2B for disorders           About GeneDecksing

    OMIM gene information: 138252    OMIM disorders: --

    UniProtKB/Swiss-Prot: NMDE2_HUMAN, Q13224
  • Defects in GRIN2B are the cause of mental retardation autosomal dominant type 6 (MRD6) [MIM:613970]. Mental
  • retardation is characterized by significantly below average general intellectual functioning associated with
    impairments in adaptative behavior and manifested during the developmental period. Note=Chromosomal aberrations
    involving GRIN2B have been found in patients with mental retardation. Translocations t(9;12)(p23;p13.1) and
    t(10;12)(q21.1;p13.1) with a common breakpoint in 12p13.1

    20/53 diseases for GRIN2B (see all 53):    About MalaCards
    epilepsia partialis continua    paine syndrome    myoclonic astatic epilepsy    obsessive-compulsive disorder
    attention deficit hyperactivity disorder    amyotrophic lateral sclerosis (als)    amyotrophic lateral sclerosis    temporal lobe epilepsy
    limbic encephalitis    status epilepticus    tardive dyskinesia    major depressive disorder
    lateral sclerosis    fetal alcohol syndrome    brain injury    bipolar i disorder
    toxic encephalopathy    anorexia nervosa    esophageal squamous cell carcinoma    systemic lupus erythematosus

    5 diseases from the University of Copenhagen DISEASES database for GRIN2B:
    Schizophrenia     Toxic encephalopathy     Parkinson's disease     Huntington's disease
    Alzheimer's disease

    10/14 Novoseek disease relationships for GRIN2B gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizophrenia 51.3 33 17224684 (3), 11532724 (3), 11317224 (3), 16549338 (3) (see all 14)
    epilepsia partialis continua 50.9 1 14580662 (1)
    ischemic brain injury 49.9 2 15857299 (2)
    huntington disease 47.6 3 9100675 (2), 17569088 (1)
    dysplasia 31.6 2 16962290 (2)
    epilepsy 30.2 5 17506987 (2), 15030493 (1)
    alcoholism 28.9 5 15812607 (3), 16911840 (1)
    bipolar disorder 27.6 3 16549338 (2), 15952869 (1)
    alzheimers disease 21.6 4 18983893 (1), 11532724 (1), 18303265 (1)
    epilepsy temporal lobe 19.6 1 17472608 (1)

    Genetic Association Database (GAD): GRIN2B
    Human Genome Epidemiology (HuGE) Navigator: GRIN2B (60 documents)

    Export disorders for GRIN2B 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 GRIN2B gene, integrated from 9 sources (see all 386):
    (articles sorted by number of sources associating them with GRIN2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An association study of the N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) and NR2B subunit gene (GRIN2B) in schizophrenia with universal DNA microarray. (PubMed id 15841096)1, 4, 9 Qin S....He L. (2005)
    2. Mutation analysis of the NMDAR2B (GRIN2B) gene in schizophrenia. (PubMed id 11317224)1, 4, 9 Ohtsuki T....Arinami T. (2001)
    3. Association analysis for genetic variants of the NMDA receptor 2b subunit (GRIN2B) and Parkinson's disease. (PubMed id 11956967)1, 4, 9 Tsai S.J....Hong C.J. (2002)
    4. Polymorphisms in the NMDA subunit 2B are not associated with alcohol dependence and alcohol withdrawal-induced seizures and delirium tremens. (PubMed id 15812607)1, 4, 9 Tadic A....Soyka M. (2005)
    5. Association analysis for NMDA receptor subunit 2B (GRIN2B) genetic variants and psychopathology and clozapine response in schizophrenia. (PubMed id 11807413)1, 4, 9 Hong C.J....Tsai S.J. (2001)
    6. mRNA distribution in adult human brain of GRIN2B, a N-methyl-D- aspartate (NMDA) receptor subunit. (PubMed id 9547169)1, 2, 9 Schito A.M.... Mandich P. (1997)
    7. Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. (PubMed id 7959773)1, 2, 9 Mandich P.... Ajmar F. (1994)
    8. Analysis of correlation between serum D-serine levels and functional promoter polymorphisms of GRIN2A and GRIN2B genes. (PubMed id 16266783)1, 4, 9 Iwayama Y....Yoshikawa T. (2006)
    9. Association analysis of the genetic variants of the N-methyl D-aspartate receptor subunit 2b (NR2b) and treatment-refractory schizophrenia in the Chinese. (PubMed id 12824739)1, 4, 9 Chiu H.J....Chen J.Y. (2003)
    10. Association analysis for the genetic variants of the NMDA receptor subunit 2b and Alzheimer's disease. (PubMed id 11844890)1, 4, 9 Tsai S.J....Hong C.J. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 2904 HGNC: 4586 AceView: GRIN2B Ensembl:ENSG00000150086 euGenes: HUgn2904
    ECgene: GRIN2B Kegg: 2904 H-InvDB: GRIN2B

    (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 GRIN2B 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 GRIN2B gene:
    Search GeneIP for patents involving GRIN2B

    Licensable Technologies for GRIN2B gene:
     Tufts University:  Treatment of Obsessive-Compulsive Disorder and Compulsive Disorders (including Over-Eating, Alcoholism & Smoking)
    GeneCards and IP:
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    About This Section

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