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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

  • This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017]

GeneCards Summary for GRIN2B Gene

GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2B) is a Protein Coding gene. Diseases associated with GRIN2B include Mental Retardation, Autosomal Dominant 6, With Or Without Seizures and Epileptic Encephalopathy, Early Infantile, 27. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling. Gene Ontology (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

  • Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28126851). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:8768735, PubMed:26875626). 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. Contributes to neural pattern formation in the developing brain. Plays a role in long-term depression (LTD) of hippocampus membrane currents and in synaptic plasticity (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

Additional gene information for GRIN2B Gene

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

Genomics for GRIN2B Gene

GeneHancer (GH) Regulatory Elements for GRIN2B Gene

Promoters and enhancers for GRIN2B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J013980 Promoter 0.7 EPDnew 650.7 +1.6 1562 0.1 SUZ12 EZH2 GRIN2B MGP GC12P013958
GH12J013981 Promoter 0.7 EPDnew 650.7 +0.0 6 0.1 CTCF SUZ12 ZSCAN4 GRIN2B GC12P013958
GH12J013967 Promoter 0.5 EPDnew 650.4 +14.2 14195 0.1 GRIN2B GC12P013958
GH12J013982 Enhancer 0.4 ENCODE 650.7 -0.2 -220 0.2 CTCF SUZ12 ZNF143 GRIN2B GC12M013988
GH12J013950 Enhancer 0.6 ENCODE 5 +31.3 31300 0.2 SOX5 SOX13 TEAD1 REST SP1 JUND ATF3 ZBTB33 HNF4A FOSL2 GRIN2B GC12P013953 GC12P013943
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRIN2B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GRIN2B gene promoter:
  • c-Jun
  • ATF-2
  • deltaCREB
  • CREB
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • AP-1

Genomic Locations for GRIN2B Gene

Genomic Locations for GRIN2B Gene
chr12:13,437,942-13,982,002
(GRCh38/hg38)
Size:
544,061 bases
Orientation:
Minus strand
chr12:13,693,165-14,133,053
(GRCh37/hg19)
Size:
439,889 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:
    • Heterotetramer. Forms heterotetrameric channels composed of two zeta subunits (GRIN1), and two epsilon subunits (GRIN2A, GRIN2B, GRIN2C or GRIN2D) (in vitro) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28126851, PubMed:26912815). Can also form heterotetrameric channels that contain at least one zeta subunit (GRIN1), at least one epsilon subunit, plus GRIN3A or GRIN3B (By similarity). In vivo, the subunit composition may depend on the expression levels of the different subunits (Probable). Found in a complex with GRIN1 and GRIN3B. Found in a complex with GRIN1, GRIN3A and PPP2CB. Interacts with PDZ domains of PATJ, DLG3 and DLG4. Interacts with HIP1 and NETO1 (By similarity). Interacts with MAGI3 (PubMed:10748157). Interacts with DAPK1 (By similarity). Found in a complex with GRIN1 and PRR7 (PubMed:27458189). Interacts with PRR7 (PubMed:27458189).

    Three dimensional structures from OCA and Proteopedia for GRIN2B Gene

neXtProt entry for GRIN2B Gene

Post-translational modifications for GRIN2B Gene

  • Phosphorylated on tyrosine residues (By similarity). Phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity (By similarity).
  • Glycosylation at Asn688, isoforms=542, isoforms=491, Asn444, Asn348, isoforms=341, and Asn74
  • Modification sites at PhosphoSitePlus

Other Protein References for GRIN2B Gene

Antibody Products

  • R&D Systems Antibodies for GRIN2B (GRIN2B/NMDAR2B)
  • Abcam antibodies for GRIN2B
  • Santa Cruz Biotechnology (SCBT) Antibodies for GRIN2B

No data available for DME Specific Peptides for GRIN2B Gene

Domains & Families for GRIN2B Gene

Gene Families for GRIN2B Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

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 :
  • A hydrophobic region that gives rise to the prediction of a transmembrane span does not cross the membrane, but is part of a discontinuously helical region that dips into the membrane and is probably part of the pore and of the selectivity filter.
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2B/GRIN2B subfamily.
Domain:
  • A hydrophobic region that gives rise to the prediction of a transmembrane span does not cross the membrane, but is part of a discontinuously helical region that dips into the membrane and is probably part of the pore and of the selectivity filter.
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

UniProtKB/Swiss-Prot Function:
Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28126851). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:8768735, PubMed:26875626). 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. Contributes to neural pattern formation in the developing brain. Plays a role in long-term depression (LTD) of hippocampus membrane currents and in synaptic plasticity (By similarity).
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

Phenotypes From GWAS Catalog for GRIN2B Gene

Gene Ontology (GO) - Molecular Function for GRIN2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004970 ionotropic glutamate receptor activity IEA --
GO:0004972 NMDA glutamate receptor activity TAS 17526495
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005216 ion channel activity IEA --
GO:0005234 extracellularly glutamate-gated 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:

miRNA for GRIN2B Gene

miRTarBase miRNAs that target GRIN2B

Clone 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 ISS 17526495
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA,TAS 26875626
GO:0009986 cell surface ISS 17526495
GO:0014069 postsynaptic density ISS --
genes like me logo Genes that share ontologies with GRIN2B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GRIN2B Gene

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:0006811 ion transport IEA --
GO:0007215 glutamate receptor signaling pathway TAS 8768735
GO:0007268 chemical synaptic transmission TAS 10485705
GO:0007275 multicellular organism development TAS 17526495
genes like me logo Genes that share ontologies with GRIN2B: view

Drugs & Compounds for GRIN2B Gene

(167) 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 185
Ketamine Approved, Vet_approved Pharma Channel blocker, antagonist 634
Acamprosate Approved, Investigational Pharma Target, antagonist 39
Haloperidol Approved Pharma Antagonist, Pore Blocker, Target, antagonist Antipsychotic drug 155

(5) Additional Compounds for GRIN2B Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>3</sup>H]MK-801
CGS19755
Antagonist
MK-801
Channel blocker

(5) Tocris Compounds for GRIN2B Gene

Compound Action Cas Number
cis-ACPD Potent NMDA agonist. Also group II mGluR agonist 477331-06-9
HU 211 NMDA receptor antagonist; also NF-kappaB inhibitor 112924-45-5
Ibotenic acid Non-selective NMDA agonist 2552-55-8
Ifenprodil hemitartrate Non-competitive NMDA antagonist. Also sigma ligand 23210-56-2
L-Cysteinesulfinic acid NMDA and mGlu agonist 1115-65-7
genes like me logo Genes that share compounds with GRIN2B: view

Transcripts for GRIN2B Gene

mRNA/cDNA for GRIN2B Gene

(5) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GRIN2B Gene

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

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for GRIN2B Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GRIN2B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GRIN2B: view

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 33
  • 99.66 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 96 (a)
OneToMany
-- 34
  • 89 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia GRIN2B 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRIN2B 34 33
  • 94.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Grin2b 16 34 33
  • 91.48 (n)
rat
(Rattus norvegicus)
Mammalia Grin2b 33
  • 91.36 (n)
cow
(Bos Taurus)
Mammalia GRIN2B 34 33
  • 90.33 (n)
OneToOne
chicken
(Gallus gallus)
Aves GRIN2B 34 33
  • 86.1 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRIN2B 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grin2b 33
  • 75.32 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100334883 33
  • 70.32 (n)
grin2db 34
  • 27 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Nmdar2 35
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GRIN2B: view image

Paralogs for GRIN2B Gene

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

  • NMDE2_HUMAN
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 Variation AA Info Type
rs1057518700 likely-pathogenic, Mental retardation, autosomal dominant 6 13,608,792(-) C/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs1057518800 likely-pathogenic, Developmental delay, Intellectual disability 13,567,228(-) C/T coding_sequence_variant, missense_variant
rs1057518988 likely-pathogenic, Ataxia, Seizure Disorders, intellectual deficiency 13,571,859(-) T/C coding_sequence_variant, intron_variant, missense_variant
rs1057519004 likely-pathogenic, uncertain-significance, intellectual deficiency, not specified 13,611,833(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1057519553 encephalopathy, early infantile, 27 (EIEE27) [MIM:616139], uncertain-significance, Epileptic encephalopathy 13,866,166(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant

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

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

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 6, with or without seizures
  • mrd6
epileptic encephalopathy, early infantile, 27
  • eiee27
west syndrome
  • epileptic encephalopathy, early infantile, 1
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
von economo's disease
  • encephalitis lethargica
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NMDE2_HUMAN
  • Mental retardation, autosomal dominant 6, with or without seizures (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. MRD6 additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. {ECO:0000269 PubMed:20890276, ECO:0000269 PubMed:23033978, ECO:0000269 PubMed:23160955, ECO:0000269 PubMed:24863970, ECO:0000269 PubMed:25356899, ECO:0000269 PubMed:27839871, ECO:0000269 PubMed:28095420}. 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. {ECO:0000269 PubMed:24272827, ECO:0000269 PubMed:27839871, ECO:0000269 PubMed:27864847}. 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.

Additional Disease Information for GRIN2B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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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 JL … Alzheimer's Disease Neuroimaging Initiative (NeuroImage 2010) 3 22 44 58
  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 (Neuroscience letters 2009) 3 22 44 58
  3. Glutamate receptor gene (GRIN2B) associated with reduced anterior cingulate glutamatergic concentration in pediatric obsessive-compulsive disorder. (PMID: 19324536) Arnold PD … Rosenberg DR (Psychiatry research 2009) 3 22 44 58
  4. Association analysis of GRIN2B, encoding N-methyl-D-aspartate receptor 2B subunit, and Alzheimer's disease. (PMID: 18303265) Seripa D … Pilotto A (Dementia and geriatric cognitive disorders 2008) 3 22 44 58
  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 (Genetics in medicine : official journal of the American College of Medical Genetics 2007) 3 22 44 58

Products for GRIN2B Gene

Sources for GRIN2B Gene

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