NRCAM (Neuronal Cell Adhesion Molecule) Gene
Comprehensive genomic and functional analysis of NRCAM, a key regulator of neural development and cancer progression.
Gene Information Card
| Symbol | NRCAM |
|---|---|
| Full Name | Neuronal Cell Adhesion Molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 7q31.1 |
| NCBI Gene ID | 4897 ncbi.nlm.nih.gov/gene/4897 |
| Ensembl ID | ENSG00000106331 |
| UniProt ID | Q92823 |
| OMIM ID | 601581 |
| HGNC ID | 7994 |
| Aliases | NgCAM, Bravo, KIAA0343, hBravo |
Description
NRCAM encodes a neuronal cell adhesion molecule belonging to the L1 family of immunoglobulin superfamily proteins. It is involved in cell-cell adhesion, neurite outgrowth, axon guidance, and synaptic plasticity. The protein is expressed in the nervous system and also in various cancers, where it modulates tumor cell migration and invasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered NRCAM expression disrupts neuronal connectivity and synaptic function. | ClinVar, OMIM |
| Schizophrenia | Genetic variants in NRCAM are associated with increased risk; affects cell adhesion and neural circuitry. | NCBI Gene, OMIM |
| Colorectal cancer | Overexpression promotes metastasis via enhanced cell migration and invasion. | COSMIC, PubMed |
| Breast cancer | NRCAM upregulation correlates with poor prognosis and epithelial-mesenchymal transition. | COSMIC, PubMed |
| Glioblastoma | NRCAM expression facilitates tumor cell invasion into brain parenchyma. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 32.5 | High |
| Cerebral cortex | 28.1 | High |
| Cerebellum | 25.3 | High |
| Spinal cord | 18.7 | Medium |
| Heart | 2.1 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.2 | High expression; used in neurite outgrowth studies |
| U87MG (glioblastoma) | 38.7 | High expression; associated with invasion |
| MCF7 (breast cancer) | 12.4 | Moderate expression; linked to metastasis |
| HEK293 (embryonic kidney) | 0.5 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2153G>A (p.Arg718His) | Missense | 0.01% | Alters cell adhesion domain; associated with autism |
| c.3124C>T (p.Arg1042Trp) | Missense | 0.005% | Impairs neurite outgrowth; linked to schizophrenia |
| c.4567_4568insA | Frameshift | <0.001% | Loss of function; rare in cancer |
| c.789T>G (p.Tyr263*) | Nonsense | <0.001% | Premature stop; loss of protein function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.4567_4568insA, c.789T>G) lead to truncated or absent protein, reducing cell adhesion and neuronal connectivity.
Gain of Function (GOF)
Missense mutations (e.g., c.2153G>A) may enhance homophilic binding or alter signaling, potentially promoting tumor cell migration.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported; some missense variants may interfere with wild-type protein function in heterozygotes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Neural crest differentiation – WikiPathways WP2064
• L1CAM interactions – Reactome R-HSA-373752
Protein Summary
NRCAM is a transmembrane glycoprotein with six immunoglobulin-like domains and five fibronectin type III repeats in the extracellular region, followed by a single transmembrane domain and a cytoplasmic tail. It mediates homophilic and heterophilic cell adhesion, interacts with cytoskeletal components, and activates signaling pathways (e.g., MAPK, PI3K) that regulate neurite outgrowth and cell migration. In cancer, NRCAM overexpression promotes invasion and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NRCAM Knockout HEK293 Cell Line | EDJ-KQ5360 | Human | 4897 | Details Get a Quote |
| NRCAM Knockout A-549 Cell Line | EDJ-KQ28473 | Human | 4897 | Details Get a Quote |
| NRCAM Knockout HeLa Cell Line | EDJ-KQ28474 | Human | 4897 | Details Get a Quote |
| NRCAM Knockout HCT 116 Cell Line | EDJ-KQ70984 | Human | 4897 | Details Get a Quote |
