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Aliases for GRIN2C Gene

Aliases for GRIN2C Gene

  • Glutamate Ionotropic Receptor NMDA Type Subunit 2C 2 3
  • Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2C 2 3 5
  • Glutamate [NMDA] Receptor Subunit Epsilon-3 3 4
  • N-Methyl D-Aspartate Receptor Subtype 2C 3 4
  • NMDAR2C 3 4
  • GluN2C 3 4
  • NR2C 3 4
  • N-Methyl-D-Aspartate Receptor Subunit 2C 3

External Ids for GRIN2C Gene

Previous HGNC Symbols for GRIN2C Gene

  • NMDAR2C

Previous GeneCards Identifiers for GRIN2C Gene

  • GC17M072854
  • GC17M075896
  • GC17M073302
  • GC17M073435
  • GC17M070349
  • GC17M068248
  • GC17M072839

Summaries for GRIN2C Gene

Entrez Gene Summary for GRIN2C Gene

  • This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

GeneCards Summary for GRIN2C Gene

GRIN2C (Glutamate Ionotropic Receptor NMDA Type Subunit 2C) is a Protein Coding gene. Diseases associated with GRIN2C include Schizophrenia and Alzheimer Disease. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include PDZ domain binding and cation channel activity. An important paralog of this gene is GRIN2A.

UniProtKB/Swiss-Prot for GRIN2C Gene

  • NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine.

Tocris Summary for GRIN2C 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 GRIN2C Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRIN2C Gene

Genomics for GRIN2C Gene

Regulatory Elements for GRIN2C Gene

Enhancers for GRIN2C Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GRIN2C on UCSC Golden Path with GeneCards custom track

Genomic Location for GRIN2C Gene

Chromosome:
17
Start:
74,842,021 bp from pter
End:
74,861,514 bp from pter
Size:
19,494 bases
Orientation:
Minus strand

Genomic View for GRIN2C Gene

Genes around GRIN2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRIN2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRIN2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRIN2C Gene

Proteins for GRIN2C Gene

  • Protein details for GRIN2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14957-NMDE3_HUMAN
    Recommended name:
    Glutamate receptor ionotropic, NMDA 2C
    Protein Accession:
    Q14957
    Secondary Accessions:
    • B2RTT1

    Protein attributes for GRIN2C Gene

    Size:
    1233 amino acids
    Molecular mass:
    134209 Da
    Quaternary structure:
    • Interacts with PDZ domains of INADL and DLG4 (By similarity). Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B). Interacts (via PDZ-binding motif) with SNX27 (via PDZ domain); the interaction is required for recycling to the plasma membrane when endocytosed and prevent degradation in lysosomes.

neXtProt entry for GRIN2C Gene

Proteomics data for GRIN2C Gene at MOPED

Post-translational modifications for GRIN2C Gene

  • Glycosylation at Asn 70, Asn 337, Asn 438, and Asn 539
  • Modification sites at PhosphoSitePlus

Other Protein References for GRIN2C Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for GRIN2C (GRIN2C/NMDAR2C)

No data available for DME Specific Peptides for GRIN2C Gene

Domains & Families for GRIN2C Gene

Gene Families for GRIN2C Gene

Suggested Antigen Peptide Sequences for GRIN2C Gene

Graphical View of Domain Structure for InterPro Entry

Q14957

UniProtKB/Swiss-Prot:

NMDE3_HUMAN :
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2C/GRIN2C subfamily.
Family:
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2C/GRIN2C subfamily.
genes like me logo Genes that share domains with GRIN2C: view

Function for GRIN2C Gene

Molecular function for GRIN2C Gene

GENATLAS Biochemistry:
N-methyl D-aspartate receptor 3,epsilon 3 subunit glutamate receptor,expressed in brain,mainly in cerebellum,basal ganglia,heart,skeletal muscle,pancreas,involved in excitatory neurotransmission and in neuronal cell death,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.
genes like me logo Genes that share phenotypes with GRIN2C: view

Animal Models for GRIN2C Gene

MGI Knock Outs for GRIN2C:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GRIN2C Gene

Localization for GRIN2C Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRIN2C 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 GRIN2C Gene COMPARTMENTS Subcellular localization image for GRIN2C gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GRIN2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular TAS --
genes like me logo Genes that share ontologies with GRIN2C: view

Pathways & Interactions for GRIN2C Gene

SuperPathways for GRIN2C 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 Alzheimer's disease
genes like me logo Genes that share pathways with GRIN2C: view

Gene Ontology (GO) - Biological Process for GRIN2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity TAS --
GO:0006810 transport TAS 9798920
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0008104 protein localization IEA --
GO:0008286 insulin receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with GRIN2C: view

No data available for SIGNOR curated interactions for GRIN2C Gene

Drugs & Compounds for GRIN2C Gene

(64) Drugs for GRIN2C Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved Nutra Full agonist, Agonist, antagonist, Target Endogenous potentiator, co-transmitter 197
Meperidine Approved Pharma Target, antagonist 66
Ketamine Approved Pharma Channel blocker, antagonist 480
Acamprosate Approved, Investigational Pharma Target, antagonist 38
Atomoxetine Approved Pharma Target, blocker 0

(5) Additional Compounds for GRIN2C 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

(5) Tocris Compounds for GRIN2C Gene

Compound Action Cas Number
cis-ACPD Potent NMDA agonist. Also group II mGluR agonist 477331-06-9
D-Aspartic acid NMDA agonist 1783-96-6
Homoquinolinic acid Selective, potent NMDA agonist 490-75-5
L-Aspartic acid NMDA agonist 56-84-8
NMDA Selective NMDA agonist 6384-92-5

(5) ApexBio Compounds for GRIN2C Gene

Compound Action Cas Number
(-)-Huperzine A NMDA receptor antagonist/AChE inhibitor 102518-79-6
(+)-MK 801 Potent NMDA antagonist 70449-94-4
(+)-MK 801 Maleate Potent NMDA antagonist 77086-22-7
Memantine hydrochloride NMDA receptor antagonist 41100-52-1
MK-801 (Dizocilpine) 77086-21-6
genes like me logo Genes that share compounds with GRIN2C: view

Transcripts for GRIN2C Gene

Unigene Clusters for GRIN2C Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for GRIN2C Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14
SP1: - - -
SP2: - - - -
SP3:
SP4: - -
SP5: - - - -

Relevant External Links for GRIN2C Gene

GeneLoc Exon Structure for
GRIN2C
ECgene alternative splicing isoforms for
GRIN2C

Expression for GRIN2C Gene

mRNA expression in normal human tissues for GRIN2C Gene

mRNA differential expression in normal tissues according to GTEx for GRIN2C Gene

This gene is overexpressed in Brain - Cerebellum (x14.7) and Brain - Cerebellar Hemisphere (x12.9).

Protein differential expression in normal tissues from HIPED for GRIN2C Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GRIN2C Gene



SOURCE GeneReport for Unigene cluster for GRIN2C Gene Hs.436980

mRNA Expression by UniProt/SwissProt for GRIN2C Gene

Q14957-NMDE3_HUMAN
Tissue specificity: Mainly expressed in brain with predominant expression is in the cerebellum, also present in the hippocampus, amygdala, caudate nucleus, corpus callosum, subthalamic nuclei and thalamus. Detected in the heart, skeletal muscle and pancreas.
genes like me logo Genes that share expression patterns with GRIN2C: view

Protein tissue co-expression partners for GRIN2C Gene

- Elite partner

Primer Products

Orthologs for GRIN2C Gene

This gene was present in the common ancestor of animals.

Orthologs for GRIN2C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GRIN2C 35
  • 89.01 (n)
  • 89.83 (a)
GRIN2C 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRIN2C 35
  • 92.76 (n)
  • 95.46 (a)
GRIN2C 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grin2c 35
  • 85.59 (n)
  • 89.23 (a)
Grin2c 16
Grin2c 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grin2c 35
  • 86.11 (n)
  • 88.99 (a)
oppossum
(Monodelphis domestica)
Mammalia GRIN2C 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 31 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia GRIN2C 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRIN2C 35
  • 80.67 (n)
  • 79.54 (a)
GRIN2C 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRIN2C 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grin2c 35
  • 67.48 (n)
  • 69.32 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100333648 35
  • 70.38 (n)
  • 71.93 (a)
grin2ca 36
  • 50 (a)
OneToMany
grin2cb 36
  • 53 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nmdar2 37
  • 31 (a)
Species with no ortholog for GRIN2C:
  • 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 GRIN2C Gene

ENSEMBL:
Gene Tree for GRIN2C (if available)
TreeFam:
Gene Tree for GRIN2C (if available)

Paralogs for GRIN2C Gene

Paralogs for GRIN2C Gene

(6) SIMAP similar genes for GRIN2C Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with GRIN2C: view

Variants for GRIN2C Gene

Sequence variations from dbSNP and Humsavar for GRIN2C Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs3744215 - 74,842,510(-) AGCAG(G/T)GTAGC nc-transcript-variant, reference, missense
rs472890 -- 74,855,246(-) CTCTC(C/T)GCCTC intron-variant, reference, synonymous-codon
rs534353 -- 74,853,217(-) CTGCG(C/G)TGGCC intron-variant
rs939536 -- 74,842,342(-) CTTCT(A/G)CCATG nc-transcript-variant, utr-variant-3-prime
rs689730 -- 74,854,994(-) GTGGC(A/C/G/T)GTGGT nc-transcript-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for GRIN2C Gene

Variant ID Type Subtype PubMed ID
nsv908743 CNV Loss 21882294
nsv518292 CNV Loss 19592680
nsv908744 CNV Loss 21882294
dgv3253n71 CNV Loss 21882294
nsv833540 CNV Loss 17160897
nsv519902 CNV Loss 19592680
dgv3254n71 CNV Loss 21882294

Variation tolerance for GRIN2C Gene

Residual Variation Intolerance Score: 81.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.06; 87.59% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for GRIN2C Gene

Disorders for GRIN2C Gene

MalaCards: The human disease database

(2) MalaCards diseases for GRIN2C Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
schizophrenia
  • schizophrenia 12
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GRIN2C

Genetic Association Database (GAD)
GRIN2C
Human Genome Epidemiology (HuGE) Navigator
GRIN2C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRIN2C
genes like me logo Genes that share disorders with GRIN2C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GRIN2C Gene

Publications for GRIN2C Gene

  1. Cloning of the cDNA for the human NMDA receptor NR2C subunit and its expression in the central nervous system and periphery. (PMID: 9037519) Lin Y.J. … Giordano T. (Brain Res. Mol. Brain Res. 1996) 3 4 23 67
  2. 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 23
  3. Differential expression of five N-methyl-D-aspartate receptor subunit mRNAs in vasopressin and oxytocin neuroendocrine cells. (PMID: 9073168) Al-Ghoul W.M. … Greenwood R.S. (Brain Res. Mol. Brain Res. 1997) 23 25 26
  4. Regulation of NR1/NR2C N-methyl-D-aspartate (NMDA) receptors by phosphorylation. (PMID: 16606616) Chen B.S. … Roche K.W. (J. Biol. Chem. 2006) 3 23
  5. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26

Products for GRIN2C Gene

Sources for GRIN2C Gene

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