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Aliases for GRIN2C Gene

Aliases for GRIN2C Gene

  • Glutamate Ionotropic Receptor NMDA Type Subunit 2C 2 3 5
  • Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2C 2 3
  • 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
  • Glutamate Receptor Ionotropic, NMDA 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 Alzheimer Disease and Schizophrenia. Among its related pathways are RET signaling and Circadian entrainment. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and cation channel activity. An important paralog of this gene is GRIN2D.

UniProtKB/Swiss-Prot for GRIN2C 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:26875626). Sensitivity to glutamate and channel kinetics depend on the subunit composition (Probable). Plays a role in regulating the balance between excitatory and inhibitory activity of pyramidal neurons in the prefrontal cortex. Contributes to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning (By similarity).

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

Additional gene information for GRIN2C Gene

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

Genomics for GRIN2C Gene

GeneHancer (GH) Regulatory Elements for GRIN2C Gene

Promoters and enhancers for GRIN2C 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
GH17I074860 Promoter 0.8 EPDnew 550.8 +1.0 1012 0.1 HIC1 CTCF SUZ12 EBF1 EZH2 GRIN2C PIR32966
GH17I074859 Promoter 0.8 EPDnew 550.8 +1.6 1582 0.1 FOXM1 CTCF BACH1 ZNF560 EZH2 GRIN2C PIR32966
GH17I074863 Enhancer 0.7 ENCODE 570.5 -0.9 -889 0.2 CTCF ZNF2 ZNF48 RAD21 BCL11B ZNF335 PATZ1 SMC3 ZNF143 NR2F6 GRIN2C UNK NUP85 FDXR
GH17I074862 Enhancer 0.7 ENCODE 550.8 -0.8 -784 0 CTCF ZNF2 RAD21 ZNF48 BCL11B ZNF335 SMC3 ZNF143 NR2F6 ZNF444 GRIN2C UNK NUP85 FDXR
GH17I074871 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.7 -13.6 -13623 7.2 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 E2F8 ZNF143 ZNF263 SP3 FDXR NT5C UNK NUP85 GGA3 ENSG00000266980 GRIN2C LOC101928343 SLC16A5 FADS6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GRIN2C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GRIN2C gene promoter:

Genomic Locations for GRIN2C Gene

Genomic Locations for GRIN2C Gene
chr17:74,842,021-74,861,514
(GRCh38/hg38)
Size:
19,494 bases
Orientation:
Minus strand
chr17:72,838,162-72,857,627
(GRCh37/hg19)

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:
    • Heterotetramer. Forms heterotetrameric channels composed of two zeta subunits (GRIN1), and two epsilon subunits (GRIN2A, GRIN2B, GRIN2C or GRIN2D) (in vitro) (PubMed:26875626). 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). 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 (PubMed:21300787).

neXtProt entry for GRIN2C Gene

Post-translational modifications for GRIN2C Gene

  • Glycosylation at posLast=7070, posLast=337337, isoforms=438, and posLast=539539
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GRIN2C Gene

Domains & Families for GRIN2C Gene

Gene Families for GRIN2C Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for GRIN2C Gene

Graphical View of Domain Structure for InterPro Entry

Q14957

UniProtKB/Swiss-Prot:

NMDE3_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. NR2C/GRIN2C 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. 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:
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:26875626). Sensitivity to glutamate and channel kinetics depend on the subunit composition (Probable). Plays a role in regulating the balance between excitatory and inhibitory activity of pyramidal neurons in the prefrontal cortex. Contributes to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning (By similarity).

Gene Ontology (GO) - Molecular Function for GRIN2C 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 IDA,IEA 26919761
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005216 ion channel activity IEA --
genes like me logo Genes that share ontologies with GRIN2C: view
genes like me logo Genes that share phenotypes with GRIN2C: view

Animal Models for GRIN2C Gene

MGI Knock Outs for GRIN2C:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 GRIN2C gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for GRIN2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IDA,TAS 26875626
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GRIN2C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GRIN2C Gene

Pathways & Interactions for GRIN2C Gene

SuperPathways for GRIN2C Gene

SuperPathway Contained pathways
1 RET signaling
2 Post NMDA receptor activation events
3 Circadian entrainment
4 Transmission across Chemical Synapses
5 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
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:0000165 MAPK cascade TAS --
GO:0006810 transport TAS,IEA 9798920
GO:0006811 ion transport IEA --
GO:0007215 glutamate receptor signaling pathway TAS 9798920
GO:0008104 protein localization IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, Target, antagonist 254
Meperidine Approved Pharma Target, antagonist 67
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 251
D-serine Approved, Experimental, Investigational Pharma Agonist, modulator 0
Ketamine Approved, Vet_approved Pharma Channel blocker, antagonist 634

(6) Additional Compounds for GRIN2C 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 GRIN2C 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

(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

Drug Products

Transcripts for GRIN2C Gene

Unigene Clusters for GRIN2C Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for GRIN2C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GRIN2C Gene:

GRIN2C

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.

Evidence on tissue expression from TISSUES for GRIN2C Gene

  • Nervous system(4.7)
  • Kidney(2)
genes like me logo Genes that share expression patterns with GRIN2C: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GRIN2C Gene

Orthologs for GRIN2C Gene

This gene was present in the common ancestor of animals.

Orthologs for GRIN2C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRIN2C 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRIN2C 33 34
  • 92.76 (n)
cow
(Bos Taurus)
Mammalia GRIN2C 33 34
  • 89.01 (n)
rat
(Rattus norvegicus)
Mammalia Grin2c 33
  • 86.11 (n)
mouse
(Mus musculus)
Mammalia Grin2c 33 16 34
  • 85.59 (n)
oppossum
(Monodelphis domestica)
Mammalia GRIN2C 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 31 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GRIN2C 33 34
  • 80.67 (n)
lizard
(Anolis carolinensis)
Reptilia GRIN2C 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grin2c 33
  • 67.48 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333648 33
  • 70.38 (n)
grin2cb 34
  • 53 (a)
OneToMany
grin2ca 34
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nmdar2 35
  • 31 (a)
Species where no ortholog for GRIN2C 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 GRIN2C Gene

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

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 Variation AA Info Type
rs1000196557 -- 74,848,570(-) C/T intron_variant
rs1000450102 -- 74,844,069(-) T/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000546368 -- 74,849,789(-) C/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000709621 -- 74,849,256(-) C/T intron_variant
rs1000741279 -- 74,855,046(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv1118768 CNV deletion 24896259
nsv518292 CNV loss 19592680
nsv519902 CNV loss 19592680
nsv833540 CNV loss 17160897
nsv952367 CNV deletion 24416366

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)

Additional Variant Information for GRIN2C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRIN2C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRIN2C Gene

Disorders for GRIN2C Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
alzheimer disease
  • ad
schizophrenia
  • sczd
deafness, autosomal dominant 20
  • dfna20
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GRIN2C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. 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 58
  2. Cloning of the cDNA for the human NMDA receptor NR2C subunit and its expression in the central nervous system and periphery. (PMID: 9037519) Lin YJ … Giordano T (Brain research. Molecular brain research 1996) 3 4 22 58
  3. 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 58
  4. Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. (PMID: 22833210) Tarabeux J … Krebs MO (Translational psychiatry 2011) 3 4 58
  5. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PMID: 19156168) Need AC … Goldstein DB (European journal of human genetics : EJHG 2009) 3 44 58

Products for GRIN2C Gene

Sources for GRIN2C Gene

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