GRIN2C Gene (Protein Coding)

Glutamate Ionotropic Receptor NMDA Type Subunit 2C

GC17M074842
GIFtS:
46
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 heterod... See more...

Aliases for GRIN2C Gene

Aliases for GRIN2C Gene

  • Glutamate Ionotropic Receptor NMDA Type Subunit 2C 2 3 5
  • GluN2C 2 3 4
  • 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
  • Glutamate Receptor Ionotropic, NMDA 2C 3 4
  • NMDAR2C 3 4
  • NR2C 3 4
  • N-Methyl-D-Aspartate Receptor Subunit 2C 3
  • GRIN2C 5

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 Arthrogryposis, Distal, Type 1A. Among its related pathways are Protein-protein interactions at synapses and Signaling by GPCR. 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 Summary 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 , Rfam classification and piRNA Summary for GRIN2C Gene

Genomics for GRIN2C Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH17J074859 Promoter 1.1 EPDnew Ensembl 250.7 +1.6 1603 0.6 CTCF ZNF341 SAFB FOXM1 BACH1 ZNF560 EZH2 GLIS2 EP300 SMC3 GRIN2C HSALNG0118690 lnc-FDXR-1 piR-31967 TMEM104
GH17J074861 Promoter 0.8 EPDnew Ensembl 267.4 -0.1 -97 0.4 EZH2 GRIN2C HSALNG0118690 lnc-FDXR-1 HSALNG0118691 FDXR
GH17J074863 Enhancer 0.7 ENCODE 270.4 -0.9 -899 0.2 ZBTB10 NR2C1 POLR2A CTCF ZNF341 SMC3 YY1 BCL11B RAD21 ZNF2 GRIN2C HSALNG0118690 HSALNG0118691 lnc-FDXR-1 UNK NUP85 FDXR
GH17J074862 Enhancer 0.7 ENCODE 250.7 -0.8 -794 0 ZBTB10 NR2C1 CTCF SMC3 YY1 BCL11B RAD21 ZNF2 NR2F1 ZNF143 GRIN2C HSALNG0118690 HSALNG0118691 lnc-FDXR-1 UNK NUP85 FDXR
GH17J074860 Promoter 0.6 EPDnew 250.7 +0.6 600 0.1 ZBTB33 HNRNPL HDAC2 EZH2 HIC1 GRIN2C HSALNG0118690 lnc-FDXR-1 TMEM104
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRIN2C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRIN2C

Top Transcription factor binding sites by QIAGEN in the GRIN2C gene promoter:
  • AREB6
  • CUTL1
  • ITF-2
  • NRSF form 1
  • NRSF form 2
  • SEF-1 (1)
  • Tal-1beta
  • USF-1
  • USF1

Genomic Locations for GRIN2C Gene

Latest Assembly
chr17:74,842,021-74,861,504
(GRCh38/hg38)
Size:
19,484 bases
Orientation:
Minus strand

Previous Assembly
chr17:72,838,162-72,856,966
(GRCh37/hg19 by Entrez Gene)
Size:
18,805 bases
Orientation:
Minus strand

chr17:72,838,162-72,857,627
(GRCh37/hg19 by Ensembl)
Size:
19,466 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 Structure • Gene Density

RefSeq DNA sequence for GRIN2C Gene

Proteins for GRIN2C Gene

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  • 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

Protein Expression for GRIN2C Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GRIN2C Gene

  • Glycosylation at Asn70, Asn337, Asn438, Asn539, and Asn685
  • Modification sites at PhosphoSitePlus

Other Protein References for GRIN2C Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for GRIN2C Gene

InterPro:
Blocks:
  • Ionotropic glutamate receptor
  • NMDA receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for GRIN2C Gene

GenScript: Design optimal peptide antigens:
  • N-methyl D-aspartate receptor subtype 2C (NMDE3_HUMAN)
  • N-methyl-D-aspartate receptor 2C subunit (O15398_HUMAN)
  • GRIN2C protein (Q6PCC5_HUMAN)

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

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Molecular function for GRIN2C 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: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).
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

Phenotypes From GWAS Catalog for GRIN2C Gene

Gene Ontology (GO) - Molecular Function for GRIN2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004970 ionotropic glutamate receptor activity IEA --
GO:0004972 NMDA glutamate receptor activity IEA,TAS 17526495
GO:0005216 ion channel activity IEA --
GO:0005261 cation channel activity IEA --
GO:0005515 protein binding IPI 11937501
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRIN2C

No data available for Enzyme Numbers (IUBMB) , 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
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for GRIN2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane TAS,IDA 26875626
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0017146 NMDA selective glutamate receptor complex IEA,TAS 17526495
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

PathCards logo

SuperPathways for GRIN2C Gene

SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 Post NMDA receptor activation events
Activation of NMDA receptor upon glutamate binding and postsynaptic events
.90
Post NMDA receptor activation events
.90
CREB phosphorylation through the activation of Ras
.78
CREB phosphorylation through the activation of CaMKII
.01
Ras activation uopn Ca2+ infux through NMDA receptor
.01
Unblocking of NMDA receptor, glutamate binding and activation
.01
3 Pathways of neurodegeneration - multiple diseases
Alzheimer disease
.65
Pathways of neurodegeneration - multiple diseases
.65
Amyotrophic lateral sclerosis
.54
4 Circadian entrainment
Circadian entrainment
.38
Glutamatergic synapse
.38
Synaptic Neurotransmission Pathways: Glutamatergic Excitation
.01
5 Transmission across Chemical Synapses
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
.67
Transmission across Chemical Synapses
.67
Neuronal System
.62
genes like me logo Genes that share pathways with GRIN2C: view

Pathways by source for GRIN2C Gene

1 BioSystems pathway for GRIN2C Gene
3 GeneGo (Thomson Reuters) pathways for GRIN2C 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 GRIN2C 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

SIGNOR curated interactions for GRIN2C Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for GRIN2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0007215 glutamate receptor signaling pathway TAS 9798920
GO:0007420 brain development NAS 17526495
GO:0009611 response to wounding IEA --
GO:0019722 calcium-mediated signaling IEA --
genes like me logo Genes that share ontologies with GRIN2C: view

Drugs & Compounds for GRIN2C Gene

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(74) 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, Vet_approved Nutra Agonist, Target, antagonist 202
Meperidine Approved Pharma Target, antagonist 88
Glutamic acid Approved Nutra Target 320
D-serine Approved, Experimental Pharma Agonist, modulator 0
Ketamine Approved, Vet_approved Pharma Channel blocker, antagonist 950

(5) Additional Compounds for GRIN2C 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 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

(4) 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
genes like me logo Genes that share compounds with GRIN2C: view

Drug products for research

Transcripts for GRIN2C Gene

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mRNA/cDNA for GRIN2C Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 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 GRIN2C

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

Expression for GRIN2C Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GRIN2C Gene

mRNA expression in normal human tissues for GRIN2C Gene
mRNA expression by BioGPS for GRIN2C GenemRNA expression by GTEx 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 and MOPED for GRIN2C Gene



Protein tissue co-expression partners for GRIN2C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.3)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with GRIN2C: view

Primer products for research

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 31
  • 95 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GRIN2C 30 31
  • 92.76 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GRIN2C 30 31
  • 89.01 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Grin2c 30
  • 86.11 (n)
Mouse
(Mus musculus)
 Mammalia Grin2c 30 17 31
  • 85.59 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia GRIN2C 31
  • 74 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 31 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves GRIN2C 30 31
  • 80.67 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GRIN2C 31
  • 58 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia grin2c 30
  • 67.48 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC100333648 30
  • 70.38 (n)
grin2cb 31
  • 53 (a)
 OneToMany
grin2ca 31
  • 50 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Nmdar2 32
  • 31 (a)
Species where no ortholog for GRIN2C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for GRIN2C Gene

ENSEMBL:
Gene Tree for GRIN2C (if available)
TreeFam:
Gene Tree for GRIN2C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GRIN2C: view image

Paralogs for GRIN2C Gene

Paralogs for GRIN2C Gene

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

  • NMDE3_HUMAN
  • H0Y2V8_HUMAN
  • Q6PCC5_HUMAN
genes like me logo Genes that share paralogs with GRIN2C: view

Variants for GRIN2C Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRIN2C Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs11575879 Benign: not provided 74,850,229(-) C/T
NM_000835.6(GRIN2C):c.1468G>A (p.Val490Ile) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs142837005 Likely Benign: not provided 74,854,953(-) C/T
NM_000835.6(GRIN2C):c.140G>A (p.Arg47His) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs143282101 Benign: not provided. - 74,842,550(-) G/Ap.Thr1196Ile
NM_000835.6(GRIN2C):c.3587C>T (p.Thr1196Ile) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs149632379 Benign: not provided 74,850,679(-) C/T
NM_000835.6(GRIN2C):c.1202G>A (p.Arg401Gln) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs563639617 Likely Benign: not provided 74,843,140(-) G/A
NM_000835.6(GRIN2C):c.2997C>T (p.Ala999=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GRIN2C 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 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

SNP Genotyping and Copy Number Assays for research

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

Disorders for GRIN2C Gene

MalaCards: The human disease database

(5) MalaCards diseases for GRIN2C Gene - From: COP and GCD

Disorder Aliases PubMed IDs
schizophrenia
  • sczd
arthrogryposis, distal, type 1a
  • da1a
autism
  • autistic disorder
west syndrome
  • epileptic encephalopathy, early infantile, 1
disease of mental health
  • mental health
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GRIN2C

Genetic Association Database
(GAD)
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 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 23
  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 23
  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
  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
  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 41

ExternalLinks

View latest publications for GRIN2C gene in Mastermind

Products for GRIN2C Gene

Sources for GRIN2C Gene