N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA 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 the key receptor subunit NMDAR1 (GRIN1) and... See more...

Aliases for GRIN2D Gene

Aliases for GRIN2D Gene

  • Glutamate Ionotropic Receptor NMDA Type Subunit 2D 2 3 5
  • GluN2D 2 3 4
  • EB11 2 3 4
  • NR2D 2 3 4
  • Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2D 2 3
  • Glutamate [NMDA] Receptor Subunit Epsilon-4 3 4
  • N-Methyl-D-Aspartate Receptor Subunit 2D 2 3
  • N-Methyl D-Aspartate Receptor Subtype 2D 3 4
  • Glutamate Receptor Ionotropic, NMDA 2D 3 4
  • NMDAR2D 3 4
  • Estrogen Receptor Binding CpG Island 3
  • EIEE46 3
  • GRIN2D 5
  • DEE46 3

External Ids for GRIN2D Gene

Previous HGNC Symbols for GRIN2D Gene

  • NMDAR2D

Previous GeneCards Identifiers for GRIN2D Gene

  • GC19P049542
  • GC19P049266
  • GC19P053574
  • GC19P053589
  • GC19P048898
  • GC19P045278

Summaries for GRIN2D Gene

Entrez Gene Summary for GRIN2D Gene

  • N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA 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 the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). [provided by RefSeq, Mar 2010]

GeneCards Summary for GRIN2D Gene

GRIN2D (Glutamate Ionotropic Receptor NMDA Type Subunit 2D) is a Protein Coding gene. Diseases associated with GRIN2D include Developmental And Epileptic Encephalopathy 46 and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are RET signaling and Protein-protein interactions at synapses. Gene Ontology (GO) annotations related to this gene include ionotropic glutamate receptor activity and NMDA glutamate receptor activity. An important paralog of this gene is GRIN2C.

UniProtKB/Swiss-Prot Summary for GRIN2D 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:9489750, PubMed:27616483, PubMed:26875626, PubMed:28126851). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:9489750).

Tocris Summary for GRIN2D 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 GRIN2D Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRIN2D Gene

Genomics for GRIN2D Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GRIN2D 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
GH19J048389 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 253.2 -2.0 -1960 4.6 BCLAF1 SP1 MYC ZNF600 IKZF1 ZNF580 ZNF592 NFIC POLR2A ZIC2 GRIN2D KDELR1 lnc-TMEM143-1 GRWD1 NOP53-AS1 SNRNP70 BICRA CYTH2 ODAD1 CARD8-AS1
GH19J048396 Promoter 0.7 Ensembl 250.7 +0.9 933 0.4 EZH2 GLIS1 ZNF398 PATZ1 GLIS2 MTA2 ZNF444 GRIN2D LOC107984140 lnc-KDELR1-2 GRWD1
GH19J048394 Enhancer 0.6 ENCODE 250.7 +0.5 499 0 POLR2A ZBTB10 ZBTB7B ZFP37 GLIS1 ZNF398 ZBTB7A ZSCAN4 PATZ1 ZNF112 GRIN2D LOC107984140 lnc-KDELR1-2 GRWD1
GH19J048395 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.9 +5.1 5051 6.3 NCOR1 MYC ZNF600 IKZF1 SIX5 ZNF580 ZNF592 POLR2A CEBPA ZNF223 lnc-KDELR1-2 NOP53-AS1 BICRA GRWD1 KDELR1 CYTH2 SNRNP70 NOP53 SNORD23 ENSG00000268746
GH19J048418 Enhancer 1.1 Ensembl ENCODE 12.9 +25.3 25348 1.6 BCLAF1 SP1 ZNF207 SIX5 SMAD5 TARDBP ETS1 MBD2 MNT NR2C1 RF00017-2750 GRIN2D SYNGR4 TMEM143 BAX HSALNG0126864 GRWD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRIN2D on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRIN2D

Top Transcription factor binding sites by QIAGEN in the GRIN2D gene promoter:
  • C/EBPalpha
  • FOXO1
  • FOXO1a
  • GATA-1
  • p53
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2
  • SEF-1 (1)
  • STAT3

Genomic Locations for GRIN2D Gene

Latest Assembly
chr19:48,393,668-48,444,937
(GRCh38/hg38)
Size:
51,270 bases
Orientation:
Plus strand

Previous Assembly
chr19:48,896,925-48,948,188
(GRCh37/hg19 by Entrez Gene)
Size:
51,264 bases
Orientation:
Plus strand

chr19:48,898,132-48,948,188
(GRCh37/hg19 by Ensembl)
Size:
50,057 bases
Orientation:
Plus strand

Genomic View for GRIN2D Gene

Genes around GRIN2D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRIN2D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRIN2D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRIN2D Gene

Proteins for GRIN2D Gene

  • Protein details for GRIN2D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15399-NMDE4_HUMAN
    Recommended name:
    Glutamate receptor ionotropic, NMDA 2D
    Protein Accession:
    O15399

    Protein attributes for GRIN2D Gene

    Size:
    1336 amino acids
    Molecular mass:
    143752 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:9489750, PubMed:26875626, PubMed:28126851). In vivo, the subunit composition may depend on the expression levels of the different subunits (Probable). Interacts with PDZ domains of PATJ and DLG4 (By similarity).

neXtProt entry for GRIN2D Gene

Post-translational modifications for GRIN2D Gene

  • Glycosylation at Asn92, Asn352, Asn366, Asn467, Asn569, and Asn715
  • Ubiquitination at Lys795 and Lys1157
  • Modification sites at PhosphoSitePlus

Other Protein References for GRIN2D Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GRIN2D Gene

Domains & Families for GRIN2D Gene

Gene Families for GRIN2D Gene

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

Protein Domains for GRIN2D Gene

InterPro:
Blocks:
  • Extracellular ligand-binding receptor
  • Ionotropic glutamate receptor
  • NMDA receptor signature

Suggested Antigen Peptide Sequences for GRIN2D Gene

GenScript: Design optimal peptide antigens:
  • N-methyl D-aspartate receptor subtype 2D (NMDE4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15399

UniProtKB/Swiss-Prot:

NMDE4_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. NR2D/GRIN2D 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. NR2D/GRIN2D subfamily.
genes like me logo Genes that share domains with GRIN2D: view

Function for GRIN2D Gene

Molecular function for GRIN2D 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:9489750, PubMed:27616483, PubMed:26875626, PubMed:28126851). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:9489750).
GENATLAS Biochemistry:
N-methyl D-aspartate receptor 2,delta subunit glutamate receptor,predominantly expressed,in diencephalic structures,mesenphalic dopaminergic neurons and in basal ganglia,involved in excitatory neurotransmission and in neuronal cell death,playing a central role in verbal memory and cognitive function

Phenotypes From GWAS Catalog for GRIN2D Gene

Gene Ontology (GO) - Molecular Function for GRIN2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004970 ionotropic glutamate receptor activity IDA 27616483
GO:0004972 NMDA glutamate receptor activity IBA,TAS 17526495
GO:0005216 ion channel activity IEA --
GO:0005515 protein binding IPI 11937501
GO:0015276 ligand-gated ion channel activity IBA 21873635
genes like me logo Genes that share ontologies with GRIN2D: view
genes like me logo Genes that share phenotypes with GRIN2D: view

Human Phenotype Ontology for GRIN2D Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRIN2D Gene

MGI Knock Outs for GRIN2D:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRIN2D

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GRIN2D Gene

Localization for GRIN2D Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRIN2D 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 GRIN2D gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GRIN2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 26875626
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0017146 NMDA selective glutamate receptor complex IDA,TAS 17526495
genes like me logo Genes that share ontologies with GRIN2D: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GRIN2D Gene

Pathways & Interactions for GRIN2D Gene

PathCards logo

SuperPathways for GRIN2D Gene

SuperPathway Contained pathways
1 RET signaling
2 Post NMDA receptor activation events
3 Pathways of neurodegeneration - multiple diseases
4 Transmission across Chemical Synapses
5 Amphetamine addiction
genes like me logo Genes that share pathways with GRIN2D: view

Pathways by source for GRIN2D Gene

3 GeneGo (Thomson Reuters) pathways for GRIN2D Gene
  • Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
  • Neurophysiological process PGE2-induced pain processing
  • Signal transduction_Erk Interactions- Inhibition of Erk
7 Qiagen pathways for GRIN2D Gene
  • Dopamine-DARPP32 Feedback onto cAMP Pathway
  • Huntington's Disease Pathway
  • Intracellular Calcium Signaling
  • Neuropathic Pain-Signaling in Dorsal Horn Neurons
  • nNOS Signaling at Neuronal Synapses

Gene Ontology (GO) - Biological Process for GRIN2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001964 startle response IEA --
GO:0006811 ion transport IEA --
GO:0007420 brain development NAS 17526495
GO:0008344 adult locomotory behavior IEA --
GO:0019722 calcium-mediated signaling IEA --
genes like me logo Genes that share ontologies with GRIN2D: view

No data available for SIGNOR curated interactions for GRIN2D Gene

Drugs & Compounds for GRIN2D Gene

(75) Drugs for GRIN2D Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Orphenadrine Approved Pharma Target, antagonist 12
Meperidine Approved Pharma Target, antagonist 88
Glutamic acid Approved Nutra Target 324
D-serine Approved, Experimental Pharma Agonist, modulator 0
Ketamine Approved, Vet_approved Pharma Channel blocker, antagonist 969

(5) Additional Compounds for GRIN2D 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
Ifenprodil hemitartrate
23210-56-2

(5) Tocris Compounds for GRIN2D 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

(2) ApexBio Compounds for GRIN2D Gene

Compound Action Cas Number
(-)-Huperzine A NMDA receptor antagonist/AChE inhibitor 102518-79-6
(+)-MK 801 Potent NMDA antagonist 70449-94-4
genes like me logo Genes that share compounds with GRIN2D: view

Drug products for research

Transcripts for GRIN2D Gene

mRNA/cDNA for GRIN2D Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRIN2D

Alternative Splicing Database (ASD) splice patterns (SP) for GRIN2D Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12
SP1: -
SP2: -
SP3:

Relevant External Links for GRIN2D Gene

GeneLoc Exon Structure for
GRIN2D

Expression for GRIN2D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GRIN2D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRIN2D Gene

This gene is overexpressed in Brain - Hypothalamus (x5.2).

Protein differential expression in normal tissues from HIPED for GRIN2D Gene

This gene is overexpressed in Plasma (42.9) and Pancreatic juice (26.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GRIN2D Gene



Protein tissue co-expression partners for GRIN2D Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRIN2D

SOURCE GeneReport for Unigene cluster for GRIN2D Gene:

Hs.445015

Evidence on tissue expression from TISSUES for GRIN2D Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with GRIN2D: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GRIN2D Gene

Orthologs for GRIN2D Gene

This gene was present in the common ancestor of animals.

Orthologs for GRIN2D Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia GRIN2D 29 30
  • 93.27 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GRIN2D 29 30
  • 91.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Grin2d 29 16 30
  • 89.1 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GRIN2D 30
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Grin2d 29
  • 88.67 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GRIN2D 30
  • 82 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GRIN2D 30
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia grin2d 29
  • 64.15 (n)
Zebrafish
(Danio rerio)
Actinopterygii grin2da 30
  • 34 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Nmdar2 29 31
  • 50.48 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012429 29
  • 43.19 (n)
Worm
(Caenorhabditis elegans)
Secernentea nmr-2 29
  • 42.04 (n)
Species where no ortholog for GRIN2D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • 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 Vase (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)

Evolution for GRIN2D Gene

ENSEMBL:
Gene Tree for GRIN2D (if available)
TreeFam:
Gene Tree for GRIN2D (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GRIN2D: view image
Alliance of Genome Resources:
Additional Orthologs for GRIN2D

Paralogs for GRIN2D Gene

(5) SIMAP similar genes for GRIN2D Gene using alignment to 1 proteins:

  • NMDE4_HUMAN
genes like me logo Genes that share paralogs with GRIN2D: view

Variants for GRIN2D Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRIN2D Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1012454 Likely Benign: not provided 48,443,186(+) G/C
NM_000836.4(GRIN2D):c.3260G>C (p.Gly1087Ala)
MISSENSE
1012455 Uncertain Significance: not provided 48,443,455(+) G/A
NM_000836.4(GRIN2D):c.3529G>A (p.Ala1177Thr)
MISSENSE
1013174 Likely Pathogenic: not provided 48,419,764(+) A/G
NM_000836.4(GRIN2D):c.2041A>G (p.Met681Val)
MISSENSE
1013175 Likely Pathogenic: not provided 48,442,220(+) C/A
NM_000836.4(GRIN2D):c.2511C>A (p.Ser837Arg)
MISSENSE
1029953 Uncertain Significance: Epileptic encephalopathy, early infantile, 46 48,441,872(+) A/G
NM_000836.4(GRIN2D):c.2356A>G (p.Thr786Ala)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GRIN2D Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GRIN2D Gene

Variant ID Type Subtype PubMed ID
esv23564 CNV gain 19812545
esv25255 CNV loss 19812545
esv2671636 CNV deletion 23128226
esv34181 CNV loss 18971310
esv3644587 CNV loss 21293372
nsv1072889 CNV deletion 25765185
nsv1126526 CNV deletion 24896259
nsv828572 CNV loss 20364138
nsv833854 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

Variation tolerance for GRIN2D Gene

Residual Variation Intolerance Score: 4.56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.33; 41.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GRIN2D Gene

Human Gene Mutation Database (HGMD)
GRIN2D
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRIN2D
Leiden Open Variation Database (LOVD)
GRIN2D

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRIN2D Gene

Disorders for GRIN2D Gene

MalaCards: The human disease database

(14) MalaCards diseases for GRIN2D Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NMDE4_HUMAN
  • Epileptic encephalopathy, early infantile, 46 (EIEE46) [MIM:617162]: 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:27616483}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GRIN2D

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GRIN2D: view

No data available for Genatlas for GRIN2D Gene

Publications for GRIN2D Gene

  1. GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. (PMID: 27616483) Li D … Falk MJ (American journal of human genetics 2016) 3 4 72
  2. Identification of single-nucleotide polymorphisms in the human N-methyl-D-aspartate receptor subunit NR2D gene, GRIN2D, and association study with schizophrenia. (PMID: 16094258) Makino C … Fukumaki Y (Psychiatric genetics 2005) 3 22 40
  3. Localization of the human NMDAR2D receptor subunit gene (GRIN2D) to 19q13.1-qter, the NMDAR2A subunit gene to 16p13.2 (GRIN2A), and the NMDAR2C subunit gene (GRIN2C) to 17q24-q25 using somatic cell hybrid and radiation hybrid mapping panels. (PMID: 9480759) Kalsi G … Gurling H (Genomics 1998) 2 3 22
  4. GRIN2D variants in three cases of developmental and epileptic encephalopathy. (PMID: 30280376) Tsuchida N … Matsumoto N (Clinical genetics 2018) 3 72
  5. Positive Allosteric Modulators of GluN2A-Containing NMDARs with Distinct Modes of Action and Impacts on Circuit Function. (PMID: 26875626) Hackos DH … Hanson JE (Neuron 2016) 3 4

Products for GRIN2D Gene

Sources for GRIN2D Gene