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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 Alzheimer Disease and Schizophrenia. Among its related pathways are Nicotine addiction and RET signaling. 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 | EPDnew Ensembl | 600.7 | +1.6 | 1604 | 0.2 | BACH1 CTCF EZH2 ZNF341 FOXM1 SAFB ZNF560 | GRIN2C lnc-FDXR-1 piR-31967 TMEM104 | |
GH17J074861 | Promoter | 0.8 | EPDnew Ensembl | 617.4 | -0.1 | -97 | 0.4 | EZH2 | GRIN2C lnc-FDXR-1 FDXR lnc-FADS6-1 | |
GH17J074863 | Enhancer | 0.7 | ENCODE | 620.4 | -0.9 | -899 | 0.2 | HNRNPL CTCF POLR2A LARP7 ZNF143 PATZ1 NR2C1 EZH2 ZNF341 RAD21 | GRIN2C lnc-FDXR-1 UNK NUP85 FDXR lnc-FADS6-1 | |
GH17J074862 | Enhancer | 0.7 | ENCODE | 600.7 | -0.8 | -794 | 0 | HNRNPL CTCF LARP7 ZNF143 NR2C1 EZH2 ZBTB10 ZNF444 BCL11A NR2C2 | GRIN2C lnc-FDXR-1 UNK NUP85 FDXR lnc-FADS6-1 | |
GH17J074860 | Promoter | 0.6 | EPDnew | 600.7 | +0.6 | 600 | 0.1 | HNRNPL EZH2 HIC1 ZBTB33 HDAC2 | GRIN2C 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:0005623 | cell | IEA | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Post NMDA receptor activation events | ||
3 | Circadian entrainment | ||
4 | Transmission across Chemical Synapses |
.62
|
|
5 | Amphetamine addiction |
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, Full agonist, Target, agonist, antagonist | 196 | ||
Meperidine | Approved | Pharma | Target, antagonist | 83 | ||
Glutamic acid | Approved | Nutra | Agonist, Full agonist, Target | 304 | ||
D-serine | Approved, Experimental | Pharma | Agonist, modulator | 0 | ||
Ketamine | Approved, Vet_approved | Pharma | Channel blocker, antagonist | 876 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
[<sup>3</sup>H]MK-801 |
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CGS19755 |
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Antagonist |
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MK-801 |
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Channel blocker |
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Ifenprodil hemitartrate |
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23210-56-2 |
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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 |
---|---|---|---|---|---|
718638 | Likely Benign: not provided | 74,854,900(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
728980 | Benign: not provided | 74,850,679(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
731067 | Benign: not provided | 74,849,868(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
768915 | Likely Benign: not provided | 74,854,953(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
769223 | Benign: not provided | 74,854,994(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
alzheimer disease |
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schizophrenia |
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arthrogryposis, distal, type 1a |
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autism |
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west syndrome |
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