Free for academic non-profit institutions. Other users need a Commercial license
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]
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.
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.
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 |
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 |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Post NMDA receptor activation events | ||
3 | Pathways of neurodegeneration - multiple diseases | ||
4 | Circadian entrainment | ||
5 | Transmission across Chemical Synapses |
.62
|
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 | -- |
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 |
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 |
|
|
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 |
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 |
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: | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GRIN2C 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GRIN2C 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GRIN2C 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Grin2c 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Grin2c 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GRIN2C 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | GRIN2C 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GRIN2C 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | grin2c 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100333648 30 |
|
||
grin2cb 31 |
|
OneToMany | |||
grin2ca 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Nmdar2 32 |
|
|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
schizophrenia |
|
|
arthrogryposis, distal, type 1a |
|
|
autism |
|
|
west syndrome |
|
|
disease of mental health |
|
|