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Aliases for GRIN2B Gene

Aliases for GRIN2B Gene

  • Glutamate Ionotropic Receptor NMDA Type Subunit 2B 2 3 5
  • Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2B 2 3
  • 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 Ionotropic, NMDA 2B 3
  • 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
  • GC12M013537

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 RET signaling and Transmission across Chemical Synapses. 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

Enhancers for GRIN2B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F013959 0.4 FANTOM5 8.5 +22.7 22651 0.1 PKNOX1 GRIN2B GC12P013958
GH12F013950 0.6 ENCODE 5 +31.3 31301 0.2 SOX13 SOX5 JUND TEAD1 TEAD4 NR3C1 NFE2L2 GRIN2B GC12P013953 GC12P013943
GH12F014167 0.6 ENCODE 4.8 -185.2 -185220 0.2 CTCF ZNF654 ZNF143 SMC3 TRIM22 RAD21 GRIN2B ENSG00000256346 GC12P014132 PIR60905
GH12F013659 0.4 FANTOM5 5.8 +322.5 322545 0.3 MTA2 GRIN2B GC12P013639 GC12P013684
GH12F013825 0.3 FANTOM5 4.7 +156.3 156304 0.3 GRIN2B GC12M013816 GC12P013812
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GRIN2B on UCSC Golden Path with GeneCards custom track

Promoters for GRIN2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000426804 301 1000 ZNF263 CTCF SUZ12 CBX2 GLIS2 SMC3 KDM5B ZBTB26 EZH2

Genomic Location for GRIN2B Gene

Chromosome:
12
Start:
13,437,942 bp from pter
End:
13,982,002 bp from pter
Size:
544,061 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 PATJ 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

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

Antibody Products

  • R&D Systems Antibodies for GRIN2B (GRIN2B/NMDAR2B)
  • Cell Signaling Technology (CST) Antibodies for GRIN2B (NMDAR2B)
  • Cloud-Clone Corp. Antibodies for GRIN2B

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:0004872 receptor activity IEA --
GO:0004970 ionotropic glutamate receptor activity IEA --
GO:0004972 NMDA glutamate receptor activity TAS 8768735
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005216 ion channel 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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRIN2B gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GRIN2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8768735
GO:0009986 cell surface ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GRIN2B: view

Pathways & Interactions for GRIN2B Gene

SuperPathways for GRIN2B Gene

SuperPathway Contained pathways
1 RET signaling
2 Post NMDA receptor activation events
3 Circadian entrainment
4 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
5 Transmission across Chemical Synapses
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:0000165 MAPK cascade TAS --
GO:0006810 transport TAS 8768735
GO:0006811 ion transport IEA --
GO:0007215 glutamate receptor signaling pathway TAS 8768735
GO:0007268 chemical synaptic transmission TAS --
genes like me logo Genes that share ontologies with GRIN2B: view

Drugs & Compounds for GRIN2B Gene

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

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 176
Ketamine Approved, Vet_approved Pharma Channel blocker, antagonist 528
Acamprosate Approved, Investigational Pharma Target, antagonist 39
Haloperidol Approved Pharma Antagonist, Target, antagonist Antipsychotic drug 141

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>3</sup>H]MK-801
CGS19755
Antagonist
MK-801
Channel blocker
cis-6-Hydroxynorketamine hydrochloride
PEAQX tetrasodium salt

(5) Tocris Compounds for GRIN2B Gene

Compound Action Cas Number
cis-6-Hydroxynorketamine hydrochloride Metabolite of ketamine (Cat.No. 3131); antidepressive
D-AP5 Potent, selective NMDA antagonist; more active form of DL-AP5 (Cat. No. 0105) 79055-68-8
DL-AP5 Potent, selective NMDA antagonist 76326-31-3
DL-AP5 Sodium salt Sodium salt of DL-AP5 (Cat. No. 0105) 1303993-72-7
PEAQX tetrasodium salt Potent NMDA receptor antagonist; NR2A selective

(88) ApexBio Compounds for GRIN2B Gene

Compound Action Cas Number
(-)-Huperzine A NMDA receptor antagonist/AChE inhibitor 102518-79-6
(-)-MK 801 NMDA antagonist,potent and selective 121917-57-5
(+)-MK 801 Potent NMDA antagonist 70449-94-4
(+)-MK 801 Maleate Potent NMDA antagonist 77086-22-7
(±)-1-(1,2-Diphenylethyl)piperidine maleate 207461-99-2
(2R,3S)-Chlorpheg 140924-23-8
(R)-(+)-HA-966 123931-04-4
(R)-4-Carboxyphenylglycine 134052-68-9
(R)-CPP 126453-07-4
(RS)-(Tetrazol-5-yl)glycine 138199-51-6
(RS)-CPP 100828-16-8
(S)-(-)-HA-966 111821-58-0
(S)-(+)-Ketamine hydrochloride 33643-47-9
5,7-Dichlorokynurenic acid 131123-76-7
5,7-Dichlorokynurenic acid sodium salt 1184986-70-6
ACBC 22264-50-2
Arcaine sulfate 14923-17-2
CCMQ 132623-44-0
CGP 37849 127910-31-0
CGP 39551 127910-32-1
CGP 78608 hydrochloride 1135278-54-4
CGS 19755 110347-85-8
CIQ 486427-17-2
cis-ACPD 477331-06-9
Co 101244 hydrochloride 193356-17-1
Conantokin G 93438-65-4
Conantokin-R 202925-60-8
Conantokin-T 127476-26-0
D-AP5 79055-68-8
D-AP7 81338-23-0
D-CPP-ene 117414-74-1
DL-AP5 76326-31-3
DL-AP5 Sodium salt 1303993-72-7
DL-AP7 78966-69-5
DQP 1105 380560-89-4
Eliprodil 119431-25-3
Felbamate 25451-15-4
Felbamate hydrate 1177501-39-1
Flupirtine Analgesic agent 56995-20-1
Flupirtine maleate 75507-68-5
Gavestinel 153436-38-5
GLYX 13 117928-94-6
Homoquinolinic acid 490-75-5
HU 211 NMDA antagonist, novel and non-competitive 112924-45-5
Ibotenic acid 2552-55-8
Ifenprodil hemitartrate 23210-56-2
Ifenprodil Tartrate NMDA receptor antagonist 23210-58-4
Ketamine hydrochloride 1867-66-9
L-689,560 potent NMDA antagonist 139051-78-8
L-701,252 151057-13-5
L-701,324 142326-59-8
L-AP5 79055-67-7
L-Cysteinesulfinic acid 1115-65-7
LY 233053 125546-04-5
LY 235959 137433-06-8
MDL-29951 130798-51-5
Memantine hydrochloride NMDA receptor antagonist 41100-52-1
MK-801 (Dizocilpine) 77086-21-6
MNI-caged-D-aspartate 845555-94-4
MNI-caged-NMDA 1227675-52-6
N-(4-Hydroxyphenylacetyl)spermine 130210-32-1
N20C hydrochloride 1177583-87-7
NMDA (N-Methyl-D-aspartic acid) NMDA receptor agonist 6384-92-5
Norketamine hydrochloride 79499-59-5
PEAQX 459836-30-7
PMPA (NMDA antagonist) 113919-36-1
PPDA 684283-16-7
PPPA 113190-92-4
QNZ 46 1237744-13-6
Quinolinic acid 89-00-9
Remacemide hydrochloride 111686-79-4
Ro 04-5595 hydrochloride 64047-73-0
Ro 25-6981 NMDA receptors blocker 169274-78-6
Ro 25-6981 Maleate NMDA receptor antagonist,potent and selective 1312991-76-6
Ro 8-4304 hydrochloride 1312991-77-7
SDZ 220-040 174575-40-7
SDZ 220-581 NMDA glutamate receptor subtype antagonist 174575-17-8
SDZ 220-581 Ammonium salt NMDA glutamate receptor antagonist 179411-94-0
SDZ 220-581 hydrochloride NMDA receptor antagonist 179411-93-9
Spermidine trihydrochloride 334-50-9
Spermine tetrahydrochloride 306-67-2
Synthalin sulfate 182285-12-7
TCN 201 852918-02-6
TCN 213 556803-08-8
TCN 237 dihydrochloride 700878-19-9
TCS 46b 302799-86-6
threo Ifenprodil hemitartrate 1312991-83-5
ZD 9379
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for GRIN2B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GRIN2B Gene:

GRIN2B

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

Primer 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 34 35
  • 99.66 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 96 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia GRIN2B 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRIN2B 34 35
  • 94.07 (n)
mouse
(Mus musculus)
Mammalia Grin2b 34 16 35
  • 91.48 (n)
rat
(Rattus norvegicus)
Mammalia Grin2b 34
  • 91.36 (n)
cow
(Bos Taurus)
Mammalia GRIN2B 34 35
  • 90.33 (n)
chicken
(Gallus gallus)
Aves GRIN2B 34 35
  • 86.1 (n)
lizard
(Anolis carolinensis)
Reptilia GRIN2B 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grin2b 34
  • 75.32 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100334883 34
  • 70.32 (n)
grin2db 35
  • 27 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Nmdar2 36
  • 32 (a)
Species where no ortholog for GRIN2B was found in the sources mined by GeneCards:
  • 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
rs387906636 Mental retardation, autosomal dominant 6 (MRD6) [MIM:613970], Pathogenic 13,571,931(-) CTTTC(C/T)GCTTT intron-variant, reference, missense
rs397514555 Mental retardation, autosomal dominant 6 (MRD6) [MIM:613970], Pathogenic 13,615,626(-) AAAAT(A/G)CTGCA intron-variant, reference, missense
rs397514556 Mental retardation, autosomal dominant 6 (MRD6) [MIM:613970], Pathogenic 13,611,847(-) AGAGC(C/T)ATTCA intron-variant, reference, missense
rs672601376 Epileptic encephalopathy, early infantile, 27 (EIEE27) [MIM:616139], Pathogenic 13,608,760(-) CTCCG(G/T)ACCTG intron-variant, upstream-variant-2KB, reference, missense
rs672601377 Epileptic encephalopathy, early infantile, 27 (EIEE27) [MIM:616139], Pathogenic 13,608,769(-) GTTTA(A/T)CAACT intron-variant, upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
esv992165 CNV loss 20482838
esv4674 CNV loss 18987735
esv3628639 CNV loss 21293372
esv3628638 CNV loss 21293372
esv3628635 CNV loss 21293372
esv3580157 CNV loss 25503493
esv3548792 CNV deletion 23714750
esv3548787 CNV deletion 23714750
esv3253829 CNV deletion 24192839
esv3159316 CNV deletion 24192839
esv2762968 CNV loss 21179565
esv275049 CNV gain+loss 21479260
esv2745578 CNV deletion 23290073
esv2745577 CNV deletion 23290073
esv2745576 CNV deletion 23290073
esv2745575 CNV deletion 23290073
esv2745573 CNV deletion 23290073
esv2676271 CNV deletion 23128226
esv2670197 CNV deletion 23128226
esv2668471 CNV deletion 23128226
esv2666327 CNV deletion 23128226
esv2658763 CNV deletion 23128226
esv1197500 CNV deletion 17803354
nsv983288 CNV duplication 23825009
nsv973032 CNV duplication 23825009
nsv832334 CNV gain 17160897
nsv826262 CNV loss 20364138
nsv524950 CNV loss 19592680
nsv518482 CNV loss 19592680
nsv475683 CNV novel sequence insertion 20440878
nsv470268 CNV gain 18288195
nsv1146444 CNV insertion 26484159
nsv1145583 CNV deletion 24896259
nsv1138107 CNV deletion 24896259
nsv1134204 CNV deletion 24896259
nsv1134202 CNV deletion 24896259
nsv1113463 CNV deletion 24896259
nsv1071016 CNV deletion 25765185
nsv1069646 CNV deletion 25765185
nsv1069645 CNV deletion 25765185
nsv1041456 CNV loss 25217958

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

Human Gene Mutation Database (HGMD)
GRIN2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRIN2B

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

Disorders for GRIN2B Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 27
  • eiee27
mental retardation, autosomal dominant 6
  • mrd6
west syndrome
  • epileptic encephalopathy, early infantile, 1
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
huntington disease
  • congenital anomalies of kidney and urinary tract 2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NMDE2_HUMAN
  • 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.
  • 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, ECO:0000269 PubMed:23160955}. 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. 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 22 46 64
  2. 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 22 46 64
  3. Glutamate receptor gene (GRIN2B) associated with reduced anterior cingulate glutamatergic concentration in pediatric obsessive-compulsive disorder. (PMID: 19324536) Arnold P.D. … Rosenberg D.R. (Psychiatry Res 2009) 3 22 46 64
  4. 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 22 46 64
  5. Association study between the NMDA receptor 2B subunit gene (GRIN2B) and schizophrenia: a HuGE review and meta-analysis. (PMID: 17224684) Li D. … He L. (Genet. Med. 2007) 3 22 46 64

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Sources for GRIN2B Gene

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