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Aliases for GRIN2B Gene

Aliases for GRIN2B Gene

  • Glutamate Ionotropic Receptor NMDA Type Subunit 2B 2 3
  • Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2B 2 3 5
  • Glutamate [NMDA] Receptor Subunit Epsilon-2 3 4
  • N-Methyl D-Aspartate Receptor Subtype 2B 3 4
  • N-Methyl-D-Aspartate Receptor Subunit 3 3 4
  • NMDAR2B 3 4
  • GluN2B 3 4
  • NR2B 3 4
  • HNR3 3 4
  • NR3 3 4
  • Glutamate Receptor Subunit Epsilon-2 3
  • EIEE27 3
  • MRD6 3

External Ids for GRIN2B Gene

Previous HGNC Symbols for GRIN2B Gene

  • NMDAR2B

Previous GeneCards Identifiers for GRIN2B Gene

  • GC12M013455
  • GC12M013858
  • GC12M013614
  • GC12M013605
  • GC12M013714

Summaries for GRIN2B Gene

Entrez Gene Summary for GRIN2B Gene

  • 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]

GeneCards Summary for GRIN2B Gene

GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2B) is a Protein Coding gene. Diseases associated with GRIN2B include epileptic encephalopathy, early infantile, 27 and mental retardation, autosomal dominant 6. Among its related pathways are Signaling by GPCR and Immune System. GO annotations related to this gene include calcium channel activity and ionotropic glutamate receptor activity. An important paralog of this gene is GRIN2A.

UniProtKB/Swiss-Prot for GRIN2B Gene

  • 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).

Tocris Summary for GRIN2B Gene

  • 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 NR2 (A-D) or NR3 (A-B) subunits. The ligand-gated channel is permeable to cations.

Gene Wiki entry for GRIN2B Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRIN2B Gene

Genomics for GRIN2B Gene

Regulatory Elements for GRIN2B Gene

Promoters for GRIN2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GRIN2B on UCSC Golden Path with GeneCards custom track

Genomic Location for GRIN2B Gene

Chromosome:
12
Start:
13,537,337 bp from pter
End:
13,982,002 bp from pter
Size:
444,666 bases
Orientation:
Minus strand

Genomic View for GRIN2B Gene

Genes around GRIN2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRIN2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRIN2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRIN2B Gene

Proteins for GRIN2B Gene

  • Protein details for GRIN2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13224-NMDE2_HUMAN
    Recommended name:
    Glutamate receptor ionotropic, NMDA 2B
    Protein Accession:
    Q13224
    Secondary Accessions:
    • Q12919
    • Q13220
    • Q13225
    • Q14CU4
    • Q9UM56

    Protein attributes for GRIN2B Gene

    Size:
    1484 amino acids
    Molecular mass:
    166367 Da
    Quaternary structure:
    • 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).

    Three dimensional structures from OCA and Proteopedia for GRIN2B Gene

neXtProt entry for GRIN2B Gene

Proteomics data for GRIN2B Gene at MOPED

Post-translational modifications for GRIN2B Gene

  • Phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity.
  • Glycosylation at Asn 74, Asn 341, Asn 348, Asn 444, Asn 491, Asn 542, and Asn 688
  • Modification sites at PhosphoSitePlus

Other Protein References for GRIN2B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for GRIN2B (GRIN2B/NMDAR2B)
  • Cell Signaling Technology (CST) Antibodies for GRIN2B (NMDAR2B)

No data available for DME Specific Peptides for GRIN2B Gene

Domains & Families for GRIN2B Gene

Gene Families for GRIN2B Gene

Suggested Antigen Peptide Sequences for GRIN2B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13224

UniProtKB/Swiss-Prot:

NMDE2_HUMAN :
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2B/GRIN2B subfamily.
Family:
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2B/GRIN2B subfamily.
genes like me logo Genes that share domains with GRIN2B: view

Function for GRIN2B Gene

Molecular function for GRIN2B Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for GRIN2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004970 ionotropic glutamate receptor activity IEA --
genes like me logo Genes that share ontologies with GRIN2B: view
genes like me logo Genes that share phenotypes with GRIN2B: view

Human Phenotype Ontology for GRIN2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRIN2B Gene

MGI Knock Outs for GRIN2B:

Animal Model Products

miRNA for GRIN2B Gene

miRTarBase miRNAs that target GRIN2B

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GRIN2B Gene

Localization for GRIN2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRIN2B Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GRIN2B Gene COMPARTMENTS Subcellular localization image for GRIN2B gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
extracellular 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GRIN2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular TAS --
GO:0017146 NMDA selective glutamate receptor complex IDA 10480938
genes like me logo Genes that share ontologies with GRIN2B: view

Pathways & Interactions for GRIN2B Gene

SuperPathways for GRIN2B Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Post NMDA receptor activation events
3 Circadian entrainment
4 Transmission across Chemical Synapses
5 Signaling by GPCR
genes like me logo Genes that share pathways with GRIN2B: view

SIGNOR curated interactions for GRIN2B Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for GRIN2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8768735
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007265 Ras protein signal transduction TAS --
GO:0007411 axon guidance TAS --
GO:0008286 insulin receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with GRIN2B: view

Drugs & Compounds for GRIN2B Gene

(89) Drugs for GRIN2B Gene - From: HMDB, Novoseek, IUPHAR, DGIdb, DrugBank, Tocris, ApexBio, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Felbamate Approved Pharma antagonist, Target 4
Memantine Approved, Investigational Pharma Channel blocker, antagonist, Target 172
Ketamine Approved Pharma Channel blocker, antagonist 467
Acamprosate Approved, Investigational Pharma Target, antagonist 38
Haloperidol Approved Pharma Antagonist, Target, antagonist Antipsychotic drug 136

(6) Additional Compounds for GRIN2B Gene - From: IUPHAR, Tocris, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>3</sup>H]MK-801
CGS19755
Antagonist
MK-801
Channel blocker
cis-ACPD
477331-06-9
genes like me logo Genes that share compounds with GRIN2B: view

Transcripts for GRIN2B Gene

mRNA/cDNA for GRIN2B Gene

Unigene Clusters for GRIN2B Gene

Glutamate receptor, ionotropic, N-methyl D-aspartate 2B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GRIN2B Gene

No ASD Table

Relevant External Links for GRIN2B Gene

GeneLoc Exon Structure for
GRIN2B
ECgene alternative splicing isoforms for
GRIN2B

Expression for GRIN2B Gene

mRNA expression in normal human tissues for GRIN2B Gene

mRNA differential expression in normal tissues according to GTEx for GRIN2B Gene

This gene is overexpressed in Brain - Hippocampus (x5.9), Brain - Cortex (x5.5), Brain - Anterior cingulate cortex (BA24) (x5.4), Testis (x5.2), Brain - Nucleus accumbens (basal ganglia) (x5.2), Brain - Frontal Cortex (BA9) (x5.0), Brain - Putamen (basal ganglia) (x4.8), and Brain - Caudate (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for GRIN2B Gene

This gene is overexpressed in Frontal cortex (37.8), Monocytes (18.3), and Fetal Brain (12.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GRIN2B Gene



SOURCE GeneReport for Unigene cluster for GRIN2B Gene Hs.654430

mRNA Expression by UniProt/SwissProt for GRIN2B Gene

Q13224-NMDE2_HUMAN
Tissue specificity: Primarily found in the fronto-parieto-temporal cortex and hippocampus pyramidal cells, lower expression in the basal ganglia.
genes like me logo Genes that share expression patterns with GRIN2B: view

Protein tissue co-expression partners for GRIN2B Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GRIN2B Gene

Orthologs for GRIN2B Gene

This gene was present in the common ancestor of animals.

Orthologs for GRIN2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRIN2B 35
  • 99.66 (n)
  • 99.93 (a)
GRIN2B 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GRIN2B 36
  • 96 (a)
OneToOne
GRIN2B 35
  • 90.33 (n)
  • 96.22 (a)
dog
(Canis familiaris)
Mammalia GRIN2B 35
  • 94.07 (n)
  • 98.38 (a)
GRIN2B 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grin2b 16
Grin2b 36
  • 99 (a)
OneToOne
Grin2b 35
  • 91.48 (n)
  • 98.65 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia GRIN2B 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grin2b 35
  • 91.36 (n)
  • 98.65 (a)
chicken
(Gallus gallus)
Aves GRIN2B 35
  • 86.1 (n)
  • 94.07 (a)
GRIN2B 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRIN2B 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grin2b 35
  • 75.32 (n)
  • 86.04 (a)
zebrafish
(Danio rerio)
Actinopterygii grin2db 36
  • 27 (a)
ManyToMany
LOC100334883 35
  • 70.32 (n)
  • 74.83 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nmdar2 37
  • 32 (a)
Species with no ortholog for GRIN2B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GRIN2B Gene

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

Paralogs for GRIN2B Gene

Paralogs for GRIN2B Gene

(5) SIMAP similar genes for GRIN2B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GRIN2B: view

Variants for GRIN2B Gene

Sequence variations from dbSNP and Humsavar for GRIN2B Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_011317 -
VAR_065900 Mental retardation, autosomal dominant 6 (MRD6)
VAR_069384 Mental retardation, autosomal dominant 6 (MRD6)
VAR_072663 Epileptic encephalopathy, early infantile, 27 (EIEE27)
VAR_072664 Epileptic encephalopathy, early infantile, 27 (EIEE27)

Structural Variations from Database of Genomic Variants (DGV) for GRIN2B Gene

Variant ID Type Subtype PubMed ID
esv2668471 CNV Deletion 23128226
nsv826262 CNV Loss 20364138
nsv518482 CNV Loss 19592680
esv2658763 CNV Deletion 23128226
nsv470268 CNV Gain 18288195
esv2745573 CNV Deletion 23290073
esv2745575 CNV Deletion 23290073
esv4674 CNV Deletion 18987735
esv2676271 CNV Deletion 23128226
esv1197500 CNV Deletion 17803354
esv2745576 CNV Deletion 23290073
esv2745577 CNV Deletion 23290073
nsv524950 CNV Loss 19592680
esv2670197 CNV Deletion 23128226
esv992165 CNV Loss 20482838
esv2745578 CNV Deletion 23290073
nsv832334 CNV Gain 17160897
esv2666327 CNV Deletion 23128226
esv275049 CNV Gain+Loss 21479260

Variation tolerance for GRIN2B Gene

Residual Variation Intolerance Score: 1.09% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRIN2B Gene

HapMap Linkage Disequilibrium report
GRIN2B
Human Gene Mutation Database (HGMD)
GRIN2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRIN2B Gene

Disorders for GRIN2B Gene

MalaCards: The human disease database

(26) MalaCards diseases for GRIN2B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NMDE2_HUMAN
  • Mental retardation, autosomal dominant 6 (MRD6) [MIM:613970]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:20890276, ECO:0000269 PubMed:23033978}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 27 (EIEE27) [MIM:616139]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberrations involving GRIN2B has 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.

Relevant External Links for GRIN2B

Genetic Association Database (GAD)
GRIN2B
Human Genome Epidemiology (HuGE) Navigator
GRIN2B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRIN2B
genes like me logo Genes that share disorders with GRIN2B: view

No data available for Genatlas for GRIN2B Gene

Publications for GRIN2B Gene

  1. Association analysis of GRIN2B, encoding N-methyl-D-aspartate receptor 2B subunit, and Alzheimer's disease. (PMID: 18303265) Seripa D. … Pilotto A. (Dement Geriatr Cogn Disord 2008) 3 23 48 67
  2. Expression of the NR2B-NMDA receptor subunit and its Tbr-1/CINAP regulatory proteins in postmortem brain suggest altered receptor processing in schizophrenia. (PMID: 20175224) Kristiansen L.V. … Meador-Woodruff J.H. (Synapse 2010) 3 23
  3. Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease. (PMID: 20197096) Stein J.L. … Thompson P.M. (Neuroimage 2010) 3 23
  4. N-methyl-D-aspartate 2b receptor subtype (NR2B) promoter methylation in patients during alcohol withdrawal. (PMID: 19350219) Biermann T. … Bleich S. (J Neural Transm 2009) 3 23
  5. Association between NR2B subunit gene (GRIN2B) promoter polymorphisms and sporadic Alzheimer's disease in the North Chinese population. (PMID: 18983893) Jiang H. … Jia J. (Neurosci. Lett. 2009) 3 23

Products for GRIN2B Gene

Sources for GRIN2B Gene

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