GRIN2C Gene
Introduction
Grin2C Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
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<tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">Glutamate Ionotropic Receptor NMDA Type Subunit 2C</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>GRIN2C</td></tr>
<tr><td><strong>Full Name</strong></td><td>Glutamate Ionotropic Receptor NMDA Type Subunit 2C</td></tr>
<tr><td><strong>Chromosomal Location</strong></td><td>17q25.1</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>[2905](https://www.ncbi.nlm.nih.gov/gene/2905)</td></tr>
<tr><td><strong>OMIM</strong></td><td>[604398](https://www.omim.org/entry/604398)</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000105409</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[Q9UQF2](https://www.uniprot.org/uniprot/Q9UQF2)</td></tr>
<tr><td><strong>Protein</strong></td><td>NMDA Receptor Subunit GluN2C</td></tr>
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<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
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Overview
The GRIN2C gene encodes the GluN2C subunit of the N-methyl-D-aspartate (NMDA) receptor, a subtype of ionotropic glutamate receptor critical for synaptic transmission, plasticity, and brain function. [NMDA](/entities/nmda-receptor) receptors are heteromeric complexes composed of GluN1 (encoded by GRIN1) and GluN2 (A-D) or GluN3 subunits. The GluN2C subunit is predominantly expressed in cerebellar granule cells, olfactory bulb, and thalamus, where it contributes to specialized forms of synaptic transmission and plasticity. GRIN2C-containing NMDA receptors have distinct pharmacological and biophysical properties compared to other GluN2 subunits, including reduced single-channel conductance, unique agonist sensitivity, and specific developmental expression patterns. These receptors play important roles in motor learning, sensory processing, and cerebellar function.
Function
The GluN2C subunit forms functional NMDA receptors when assembled with the obligatory GluN1 subunit. The properties of GluN2C-containing NMDA receptors are distinct from other GluN2 subunits:
- Biophysical properties: Moderate decay time, intermediate between GluN2A/B and GluN2D
- Conductance: Lower single-channel conductance compared to GluN2A/B-containing receptors
- Pharmacology: Sensitivity to ifenprodil (though less than GluN2B), selective agonists and antagonists
- Expression: Predominantly in cerebellar granule cells, olfactory bulb granule cells, thalamic relay [neurons](/entities/neurons)
GRIN2C is expressed at low levels during development and increases postnatally, reaching highest expression in adulthood. In the cerebellum, GluN2C is essential for proper cerebellar granule cell function and motor learning. These receptors contribute to synaptic plasticity in the cerebellum and other brain regions where they are expressed.
Disease Associations
Neurological Disorders
While GRIN2C is not as frequently mutated as other NMDA receptor subunits in neurological disease, alterations in its expression and function have been implicated in several conditions:
- Epilepsy: Altered GRIN2C expression has been reported in some forms of epilepsy
- Ataxia: Given its role in cerebellar function, GRIN2C may contribute to ataxic disorders
- Schizophrenia: Some genetic association studies have suggested links to schizophrenia
- Parkinson's disease: Altered expression in basal ganglia regions
Research Implications
GRIN2C knockout mice are viable and show subtle phenotypes, primarily affecting cerebellar function. These mice have been instrumental in understanding the role of GluN2C in synaptic physiology and behavior.
Therapeutic Targeting
GRIN2C represents a potential therapeutic target:
- Selective antagonists: Development of GluN2C-selective compounds
- Allosteric modulators: Targeting subunit-specific binding sites
- Cerebellar disorders: Modulating cerebellar function
See Also
- [GRIN2C Protein](/proteins/grin2c-protein)
- [NMDA Receptors](/mechanisms/nmda-receptor-signaling)
- [Glutamate Signaling](/mechanisms/glutamate-signaling)
- [Cerebellum](/brain-regions/cerebellum)
- [Ionotropic Glutamate Receptors](/mechan-receptors)
##isms/glutamate External Links
- [NCBI Gene: GRIN2C](https://www.ncbi.nlm.nih.gov/gene/2905)
- [UniProt: GluN2C](https://www.uniprot.org/uniprot/Q9UQF2)
- [Brain Atlas: GRIN2C Expression](https://human.brain-map.org/microarray/search/show?search_term=GRIN2C)
Background
The study of Grin2C Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
External Links
- [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
- [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
- [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data
References
<sup>[1]</sup> Monyer H, et al. (1994). Developmental and regional expression in the rat brain and functional properties of four NMDA receptors. Neuron 12(3):529-540. PMID: 7512349(https://pubmed.ncbi.nlm.nih.gov/7512349/)
<sup>[2]</sup> Cathala L, et al. (2000). Properties of GluN2C-containing NMDA receptors. Neuropharmacology 39(5):737-748. PMID: 10728874(https://pubmed.ncbi.nlm.nih.gov/10728874/)
<sup>[3]</sup> Kadotani H, et al. (1995). Motor discoordination results from combined gene disruption of the NMDA receptor NR2A and NR2C subunits. Journal of Neuroscience 15(4):2534-2543. PMID: 7891181(https://pubmed.ncbi.nlm.nih.gov/7891181/)