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GRIN2C glutamate ionotropic receptor NMDA type subunit 2C [ Homo sapiens (human) ]

Gene ID: 2905, updated on 6-Sep-2020

Summary

Official Symbol
GRIN2Cprovided by HGNC
Official Full Name
glutamate ionotropic receptor NMDA type subunit 2Cprovided by HGNC
Primary source
HGNC:HGNC:4587
See related
Ensembl:ENSG00000161509 MIM:138254
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NR2C; GluN2C; NMDAR2C
Summary
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]
Expression
Biased expression in thyroid (RPKM 3.2), brain (RPKM 2.5) and 6 other tissues See more
Orthologs

Genomic context

See GRIN2C in Genome Data Viewer
Location:
17q25.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (74842021..74860843, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72838162..72856966, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene N-acetyltransferase 9 (putative) Neighboring gene transmembrane protein 104 Neighboring gene Sharpr-MPRA regulatory region 86 Neighboring gene ferredoxin reductase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120-induced dephosphorylation of KV2.1 is dependent on NMDA receptor-mediated activation of protein phosphatase 2B or calcineurin PubMed
env HIV-1 gp120 activates forward trafficking and surface clustering of NMDA receptors in membrane microdomains by a PKA-dependent phosphorylation of the NR1 C-terminal Ser897, followed by a PKC-dependent phosphorylation of Ser896 PubMed
env HIV-1 gp120-induced synapse loss requires sequential activation of CXCR4, IL-1beta receptor, and NMDA receptor PubMed
env HIV-1 clade B gp120 significantly downregulates NMDA receptor gene and protein expression and levels of glutamine compared to clade C gp120 PubMed
env HIV-1 gp120 activates NMDA receptor directly and phosphorylates JNK through a gp120-mediated apoptotic pathway in human neuroblastoma cells PubMed
env HIV-1 gp120-mediated human cell death involves the NMDA receptor complex; antagonists of the NMDA receptor reverse the gp120-mediated effects PubMed
env HIV-1 gp120 causes an activation of phospholipase A2, resulting in the increased release of arachidonic acid, which may sensitize the NMDA receptor PubMed
env HIV-1 gp120 binds to cells expressing epsilon1/zeta1 or epsilon2/zeta1 combined NMDA receptor subunits, but not to cells expressing a single epsilon1, epsilon2, or zeta1 NMDA receptor subunit PubMed
Tat tat The gene expression of GRIN2C is significantly upregulated in both clade B and clade C Tat treated SK-N-MC neuroblastoma cells PubMed
tat Ca(2+) influx through the NMDA receptor is necessary for HIV-1 Tat-induced synapse loss PubMed
tat HIV-1 Tat upregulates the expression of NMDARs for the apoptosis of retinal pigmen epithelium (RPE) cells. Silencing of NMDARs by siRNA abolishes Tat-induced RPE apoptosis PubMed
tat HIV-1 Tat-induced activation of spermine oxidase (SMO) activity involves NMDAR stimulation in human neuroblastoma PubMed
tat HIV-1 Tat and methamphetamine inhibit the normal conjunction of signaling between D1 and NMDA receptors, resulting in neural dysfunction and death PubMed
tat HIV-1 Tat interacts with NMDA receptors in primary neuronal-glial cultures and in hippocampal slice cultures PubMed
tat HIV-1 Tat treatment induces the formation of complexes involving the low-density lipoprotein receptor-related protein (LRP), postsynaptic density protein-95 (PSD-95), and N-methyl-d-aspartic acid (NMDA) receptors at the neuron surface PubMed
tat Tat treatment causes activation of neuronal nitric oxide synthase (nNOS) through association with NMDA receptors PubMed
tat HIV-1 Tat-induced NMDA receptor activation is clade dependent. The Cys 30-Cys 31 motif in Tat is critical for the NMDA receptor activation PubMed
tat HIV-1 Tat induces apoptosis of neurons and neurotoxicity through the activation of both NMDA and non-NMDA receptors PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NMDA glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NMDA glutamate receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
NMDA glutamate receptor activity TAS
Traceable Author Statement
more info
PubMed 
glutamate-gated calcium ion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
ligand-gated ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
brain development NAS
Non-traceable Author Statement
more info
PubMed 
calcium ion transmembrane import into cytosol IDA
Inferred from Direct Assay
more info
PubMed 
calcium-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
directional locomotion IEA
Inferred from Electronic Annotation
more info
 
excitatory chemical synaptic transmission NAS
Non-traceable Author Statement
more info
PubMed 
excitatory postsynaptic potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamate receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
ionotropic glutamate receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
long-term synaptic potentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
protein localization to postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic plasticity NAS
Non-traceable Author Statement
more info
PubMed 
response to wounding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
NMDA selective glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NMDA selective glutamate receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
NMDA selective glutamate receptor complex TAS
Traceable Author Statement
more info
PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
glutamate receptor ionotropic, NMDA 2C
Names
N-methyl D-aspartate receptor subtype 2C
N-methyl-D-aspartate receptor subunit 2C
glutamate [NMDA] receptor subunit epsilon-3
glutamate receptor, ionotropic, N-methyl D-aspartate 2C

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_000835.6NP_000826.2  glutamate receptor ionotropic, NMDA 2C isoform 1 precursor

    See identical proteins and their annotated locations for NP_000826.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC068874, AC087651
    Consensus CDS
    CCDS32724.1
    UniProtKB/Swiss-Prot
    Q14957
    UniProtKB/TrEMBL
    O15398
    Related
    ENSP00000293190.5, ENST00000293190.10
    Conserved Domains (4) summary
    cd06378
    Location:28389
    PBP1_iGluR_NMDA_NR2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR2 subunit of NMDA receptor family
    cd13718
    Location:400800
    PBP2_iGluR_NMDA_Nr2; The ligand-binding domain of the NR2 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    pfam00060
    Location:554826
    Lig_chan; Ligand-gated ion channel
    pfam10565
    Location:837917
    NMDAR2_C; N-methyl D-aspartate receptor 2B3 C-terminus
  2. NM_001278553.2NP_001265482.1  glutamate receptor ionotropic, NMDA 2C isoform 2 precursor

    See identical proteins and their annotated locations for NP_001265482.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, includes an alternate terminal 3' exon, and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AC087651, BC041128
    Consensus CDS
    CCDS62330.1
    UniProtKB/TrEMBL
    H0Y2V8, Q8IW23
    Related
    ENSP00000338645.4, ENST00000347612.4
    Conserved Domains (3) summary
    cd06378
    Location:28389
    PBP1_iGluR_NMDA_NR2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR2 subunit of NMDA receptor family
    cd13718
    Location:400800
    PBP2_iGluR_NMDA_Nr2; The ligand-binding domain of the NR2 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    pfam00060
    Location:554826
    Lig_chan; Ligand-gated ion channel

RNA

  1. NR_103735.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC068874, AC087651

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    74842021..74860843 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524689.2XP_011522991.1  glutamate receptor ionotropic, NMDA 2C isoform X7

    See identical proteins and their annotated locations for XP_011522991.1

    Conserved Domains (4) summary
    cd06378
    Location:28389
    PBP1_iGluR_NMDA_NR2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR2 subunit of NMDA receptor family
    cd13718
    Location:400829
    PBP2_iGluR_NMDA_Nr2; The ligand-binding domain of the NR2 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    pfam00060
    Location:554855
    Lig_chan; Ligand-gated ion channel
    pfam10565
    Location:866946
    NMDAR2_C; N-methyl D-aspartate receptor 2B3 C-terminus
  2. XM_006721846.4XP_006721909.1  glutamate receptor ionotropic, NMDA 2C isoform X6

    Conserved Domains (4) summary
    cd06378
    Location:103464
    PBP1_iGluR_NMDA_NR2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR2 subunit of NMDA receptor family
    cd13718
    Location:475874
    PBP2_iGluR_NMDA_Nr2; The ligand-binding domain of the NR2 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    pfam00060
    Location:628900
    Lig_chan; Ligand-gated ion channel
    pfam10565
    Location:911991
    NMDAR2_C; N-methyl D-aspartate receptor 2B3 C-terminus
  3. XM_011524686.3XP_011522988.1  glutamate receptor ionotropic, NMDA 2C isoform X2

    Conserved Domains (4) summary
    cd06378
    Location:103464
    PBP1_iGluR_NMDA_NR2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR2 subunit of NMDA receptor family
    cd13718
    Location:475903
    PBP2_iGluR_NMDA_Nr2; The ligand-binding domain of the NR2 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    pfam00060
    Location:628929
    Lig_chan; Ligand-gated ion channel
    pfam10565
    Location:9401020
    NMDAR2_C; N-methyl D-aspartate receptor 2B3 C-terminus
  4. XM_006721845.4XP_006721908.1  glutamate receptor ionotropic, NMDA 2C isoform X5

    Conserved Domains (4) summary
    cd06378
    Location:103464
    PBP1_iGluR_NMDA_NR2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR2 subunit of NMDA receptor family
    cd13718
    Location:475875
    PBP2_iGluR_NMDA_Nr2; The ligand-binding domain of the NR2 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    pfam00060
    Location:629901
    Lig_chan; Ligand-gated ion channel
    pfam10565
    Location:912992
    NMDAR2_C; N-methyl D-aspartate receptor 2B3 C-terminus
  5. XM_011524688.3XP_011522990.1  glutamate receptor ionotropic, NMDA 2C isoform X4

    Conserved Domains (4) summary
    cd06378
    Location:103464
    PBP1_iGluR_NMDA_NR2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR2 subunit of NMDA receptor family
    cd13718
    Location:475883
    PBP2_iGluR_NMDA_Nr2; The ligand-binding domain of the NR2 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    pfam00060
    Location:629909
    Lig_chan; Ligand-gated ion channel
    pfam10565
    Location:9201000
    NMDAR2_C; N-methyl D-aspartate receptor 2B3 C-terminus
  6. XM_011524687.3XP_011522989.1  glutamate receptor ionotropic, NMDA 2C isoform X3

    Conserved Domains (4) summary
    cd06378
    Location:103464
    PBP1_iGluR_NMDA_NR2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR2 subunit of NMDA receptor family
    cd13718
    Location:475896
    PBP2_iGluR_NMDA_Nr2; The ligand-binding domain of the NR2 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    pfam00060
    Location:629922
    Lig_chan; Ligand-gated ion channel
    pfam10565
    Location:9331013
    NMDAR2_C; N-methyl D-aspartate receptor 2B3 C-terminus
  7. XM_017024544.2XP_016880033.1  glutamate receptor ionotropic, NMDA 2C isoform X1

  8. XM_011524692.3XP_011522994.1  glutamate receptor ionotropic, NMDA 2C isoform X8

    Conserved Domains (3) summary
    cd06378
    Location:103464
    PBP1_iGluR_NMDA_NR2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR2 subunit of NMDA receptor family
    pfam00060
    Location:629817
    Lig_chan; Ligand-gated ion channel
    cl21456
    Location:475818
    Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
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