NRGN: Neurogranin – A Key Postsynaptic Protein in Cognitive Function and Neurodegeneration
Comprehensive biomedical resource for NRGN (neurogranin), including genomic annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | NRGN |
|---|---|
| Full Name | Neurogranin |
| Gene Type | protein-coding |
| Chromosomal Location | 11q24.2 |
| NCBI Gene ID | 4900 ncbi.nlm.nih.gov/gene/4900 |
| Ensembl ID | ENSG00000154146 |
| UniProt ID | Q92686 |
| OMIM ID | 602350 |
| HGNC ID | 8000 |
| Aliases | RC3, Ng, hng |
Description
NRGN (neurogranin) is a protein-coding gene located on chromosome 11q24.2. It encodes a postsynaptic calmodulin-binding protein that plays a critical role in synaptic plasticity, learning, and memory by regulating calmodulin availability and calcium signaling. Neurogranin is predominantly expressed in the brain, especially in the cerebral cortex, hippocampus, and striatum. Altered expression and mutations in NRGN have been associated with Alzheimer's disease, schizophrenia, and other cognitive disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | Reduced neurogranin levels impair synaptic plasticity and calcium signaling, contributing to cognitive decline. Cerebrospinal fluid neurogranin is a biomarker for synaptic degeneration. | ClinVar, PMID: 25779938 |
| Schizophrenia | Genetic variants in NRGN (e.g., rs12807809) are associated with increased risk, possibly through altered dendritic spine density and glutamatergic signaling. | OMIM, PMID: 18431406 |
| Bipolar disorder | NRGN expression changes in prefrontal cortex may affect mood regulation via calmodulin-dependent pathways. | PMID: 22006018 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral cortex | 48.2 | High |
| Hippocampus | 42.1 | High |
| Caudate nucleus | 35.6 | High |
| Cerebellum | 12.3 | Medium |
| Testis | 0.8 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.4 | Neuronal model, high expression |
| U-87 MG (glioblastoma) | 8.2 | Moderate expression |
| HEK293 (embryonic kidney) | 0.3 | Very low, non-neuronal |
| HepG2 (hepatocellular carcinoma) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs12807809 | SNP (intronic) | 0.33 (European) | Associated with schizophrenia risk; may affect splicing or expression |
| c.197C>T (p.Pro66Leu) | Missense | <0.01 | Rare variant; potential impact on calmodulin binding |
| c.88G>A (p.Ala30Thr) | Missense | <0.01 | Unknown functional effect; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Reduced neurogranin expression or impaired calmodulin binding leads to disrupted synaptic plasticity and cognitive deficits.
Gain of Function (GOF)
Not well characterized; no known gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described for NRGN.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Calmodulin signaling pathway
• Long-term potentiation (LTP)
• Glutamatergic synapse
• Alzheimer's disease pathway
Protein Summary
Neurogranin is a 78-amino-acid, 7.6 kDa postsynaptic protein that binds calmodulin in a calcium-dependent manner. It is a substrate for protein kinase C and is involved in the regulation of calcium/calmodulin-dependent signaling, which is essential for long-term potentiation and memory formation. Neurogranin is highly expressed in forebrain regions and is a well-established cerebrospinal fluid biomarker for synaptic dysfunction in Alzheimer's disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NRGN Knockout HEK293 Cell Line | EDJ-KQ5362 | Human | 4900 | Details Get a Quote |
| NRGN Knockout A-549 Cell Line | EDJ-KQ28475 | Human | 4900 | Details Get a Quote |
| NRGN Knockout HCT 116 Cell Line | EDJ-KQ28476 | Human | 4900 | Details Get a Quote |
| NRGN Knockout HeLa Cell Line | EDJ-KQ28477 | Human | 4900 | Details Get a Quote |
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