GRIN2C
Glutamate Ionotropic Receptor NMDA Type Subunit 2C
Gene Information Card
| Symbol | GRIN2C |
|---|---|
| Full Name | Glutamate Ionotropic Receptor NMDA Type Subunit 2C |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 2905 ncbi.nlm.nih.gov/gene/2905 |
| Ensembl ID | ENSG00000161509 |
| UniProt ID | Q14957 |
| OMIM ID | 138253 |
| HGNC ID | 4587 |
| Aliases | GluN2C, NMDAR2C, NR2C |
Description
GRIN2C encodes the GluN2C subunit of the N-methyl-D-aspartate (NMDA) receptor, an ionotropic glutamate receptor that mediates excitatory neurotransmission. The GluN2C subunit confers distinct channel properties, including lower conductance and reduced sensitivity to Mg2+ block, and is predominantly expressed in the cerebellum and olfactory bulb. GRIN2C is involved in synaptic plasticity, learning, and motor coordination. Variants in GRIN2C are associated with neurodevelopmental disorders, epilepsy, and schizophrenia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with or without seizures | Missense and loss-of-function variants impair NMDA receptor function, leading to altered glutamatergic signaling | ClinVar, OMIM |
| Epilepsy, early-onset | Gain-of-function variants increase channel open probability, causing hyperexcitability | ClinVar, PubMed |
| Schizophrenia | Common variants and rare missense changes may alter NMDA receptor subunit composition and synaptic transmission | NCBI Gene, PubMed |
| Intellectual disability | De novo missense variants disrupt receptor trafficking or channel gating | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 22.5 | High |
| Cerebral cortex | 4.3 | Low |
| Hippocampus | 3.1 | Low |
| Olfactory bulb | 15.8 | Medium |
| Testis | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 2.5 | Low expression |
| U-87 MG (glioblastoma) | 0.8 | Not detected |
| HEK293 (embryonic kidney) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2002G>A (p.Gly668Arg) | Missense | <0.01% | Gain-of-function; increased channel open probability; associated with epilepsy |
| c.1631C>T (p.Thr544Met) | Missense | <0.01% | Loss-of-function; reduced surface expression; associated with intellectual disability |
| c.2450A>G (p.Tyr817Cys) | Missense | <0.01% | Dominant-negative; impairs receptor assembly; associated with neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
Missense variants that reduce receptor surface expression, channel conductance, or agonist sensitivity (e.g., p.Thr544Met).
Gain of Function (GOF)
Missense variants that increase channel open probability or reduce Mg2+ block (e.g., p.Gly668Arg).
Dominant Negative (DN)
Variants that disrupt subunit assembly or co-assembly with other NMDA subunits (e.g., p.Tyr817Cys).
View complete mutation data：
Gene Ontology (GO)
| • NMDA glutamate receptor activity (GO:0004972) | • extracellular ligand-gated ion channel activity (GO:0005230) |
| • plasma membrane (GO:0005886) | • neurotransmitter receptor activity (GO:0030594) |
| • chemical synaptic transmission (GO:0007268) | • excitatory postsynaptic potential (GO:0060079) |
Pathways
• UniProt: Glutamatergic synapse (hsa04724)
• UniProt: Neuroactive ligand-receptor interaction (hsa04080)
• UniProt: Long-term potentiation (hsa04720)
Protein Summary
The GluN2C subunit (UniProt Q14957) is a 1,236-amino-acid protein with a large extracellular N-terminal domain, a transmembrane domain forming the ion channel pore, and an intracellular C-terminal domain involved in receptor trafficking and signaling. It assembles with GluN1 subunits to form functional NMDA receptors. GluN2C-containing receptors have lower single-channel conductance and reduced sensitivity to Mg2+ block compared to GluN2A- or GluN2B-containing receptors. The protein is highly expressed in cerebellar granule cells and olfactory bulb, where it modulates synaptic transmission and motor learning.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRIN2C Knockout HEK293 Cell Line | EDJ-KQ1576 | Human | 2905 | Details Get a Quote |
| GRIN2C Knockout HeLa Cell Line | EDJ-KQ53432 | Human | 2905 | Details Get a Quote |
| GRIN2C Knockout A-549 Cell Line | EDJ-KQ61907 | Human | 2905 | Details Get a Quote |
| GRIN2C Knockout HCT 116 Cell Line | EDJ-KQ70387 | Human | 2905 | Details Get a Quote |
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