Human Gene GRIN2C (ENST00000347612.4) from GENCODE V44
  Description: Homo sapiens glutamate ionotropic receptor NMDA type subunit 2C (GRIN2C), transcript variant 2, mRNA. (from RefSeq NM_001278553)
RefSeq Summary (NM_001278553): 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].
Gencode Transcript: ENST00000347612.4
Gencode Gene: ENSG00000161509.14
Transcript (Including UTRs)
   Position: hg38 chr17:74,844,032-74,860,535 Size: 16,504 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg38 chr17:74,844,237-74,855,092 Size: 10,856 Coding Exon Count: 11 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:74,844,032-74,860,535)mRNA (may differ from genome)Protein (873 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GRIN2C
Diseases sorted by gene-association score: alzheimer disease (4), schizophrenia (3), autosomal dominant nonsyndromic deafness 20 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D016604 Aflatoxin B1
  • D000643 Ammonium Chloride
  • C047360 felbamate
  • C491996 (2S*,3R*)-1-(biphenyl-4-carbonyl)piperazine-2,3-dicarboxylic acid
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C029790 2,2',3',4,4',5-hexachlorobiphenyl
  • C511295 2,2,4,4-tetrabromodiphenyl ether
  • C029141 2,2,5,7,8-pentamethyl-1-hydroxychroman
  • D015074 2-Aminoadipic Acid
  • C050592 3-(2-carboxypiperazin-4-yl)propyl-1-phosphonic acid
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 106.04 RPKM in Brain - Cerebellum
Total median expression: 338.94 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -46.90102-0.460 Picture PostScript Text
3' UTR -65.90205-0.321 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001828 - ANF_lig-bd_rcpt
IPR019594 - Glu_rcpt_Glu/Gly-bd
IPR001320 - Iontro_glu_rcpt
IPR001508 - NMDA_rcpt
IPR001638 - SBP_bac_3

Pfam Domains:
PF01094 - Receptor family ligand binding region
PF00060 - Ligand-gated ion channel
PF00497 - Bacterial extracellular solute-binding proteins, family 3

ModBase Predicted Comparative 3D Structure on H0Y2V8
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004970 ionotropic glutamate receptor activity
GO:0005216 ion channel activity
GO:0005234 extracellular-glutamate-gated ion channel activity
GO:0038023 signaling receptor activity

Biological Process:
GO:0006811 ion transport
GO:0007165 signal transduction
GO:0034220 ion transmembrane transport
GO:0035235 ionotropic glutamate receptor signaling pathway
GO:0060079 excitatory postsynaptic potential

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0045202 synapse
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  U77782 - Human N-methyl-D-aspartate receptor 2C subunit precursor (NMDAR2C) mRNA, complete cds.
L76224 - Homo sapiens NMDA receptor mRNA, complete cds.
BC140801 - Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C, mRNA (cDNA clone MGC:176478 IMAGE:9021669), complete cds.
BC144586 - Homo sapiens cDNA clone IMAGE:9053116, containing frame-shift errors.
AB208799 - Homo sapiens mRNA for N-methyl-D-aspartate receptor subunit 2C precursor variant protein.
BC041128 - Homo sapiens, Similar to glutamate receptor, ionotropic, N-methyl D-aspartate 2C, clone IMAGE:5732599, mRNA, partial cds.
JD482698 - Sequence 463722 from Patent EP1572962.
JD277647 - Sequence 258671 from Patent EP1572962.
JD425358 - Sequence 406382 from Patent EP1572962.
JD111730 - Sequence 92754 from Patent EP1572962.
JD105869 - Sequence 86893 from Patent EP1572962.
JD117159 - Sequence 98183 from Patent EP1572962.
JD380084 - Sequence 361108 from Patent EP1572962.
JD425357 - Sequence 406381 from Patent EP1572962.
BC031077 - Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C, mRNA (cDNA clone IMAGE:5287877), complete cds.
BC059384 - Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C, mRNA (cDNA clone IMAGE:5302958), complete cds.
KJ901470 - Synthetic construct Homo sapiens clone ccsbBroadEn_10864 GRIN2C gene, encodes complete protein.
CU691360 - Synthetic construct Homo sapiens gateway clone IMAGE:100021012 5' read GRIN2C mRNA.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway
hsa04080 - Neuroactive ligand-receptor interaction
hsa04720 - Long-term potentiation
hsa05010 - Alzheimer's disease
hsa05014 - Amyotrophic lateral sclerosis (ALS)

BioCarta from NCI Cancer Genome Anatomy Project
h_nos1Pathway - Nitric Oxide Signaling Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000347612.1, ENST00000347612.2, ENST00000347612.3, H0Y2V8, H0Y2V8_HUMAN, hCG_29832, NM_001278553, uc002jlu.1, uc002jlu.2
UCSC ID: ENST00000347612.4
RefSeq Accession: NM_001278553
Protein: H0Y2V8 CCDS: CCDS62330.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.