CDH2 (Cadherin 2) Gene: Function, Expression, and Clinical Significance
Comprehensive biomedical overview of the CDH2 gene encoding N-cadherin, including genomic data, expression profiles, disease associations, and mutation analysis.
Gene Information Card
| Symbol | CDH2 |
|---|---|
| Full Name | cadherin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 18q12.1 |
| NCBI Gene ID | 1000 ncbi.nlm.nih.gov/gene/1000 |
| Ensembl ID | ENSG00000170558 |
| UniProt ID | P19022 |
| OMIM ID | 114020 |
| HGNC ID | 1759 |
| Aliases | CD325, CDHN, N-cadherin, NCAD |
Description
CDH2 (cadherin 2) encodes N-cadherin, a classical cadherin transmembrane glycoprotein that mediates calcium-dependent cell-cell adhesion. N-cadherin is essential for neural development, cardiac morphogenesis, and tissue integrity. It is frequently dysregulated in cancer, fibrosis, and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia (SPG157) | Loss-of-function mutations in CDH2 disrupt axonal adhesion and neuronal connectivity, leading to progressive spasticity and weakness. | ClinVar; PMID: 34599368 |
| Breast cancer | Overexpression of N-cadherin promotes epithelial-to-mesenchymal transition (EMT), enhancing invasion and metastasis. | COSMIC; PMID: 29740175 |
| Melanoma | Gain-of-function CDH2 expression correlates with increased tumor cell migration and poor prognosis. | COSMIC; PMID: 25636839 |
| Cardiac fibrosis | Upregulation of N-cadherin in cardiac fibroblasts contributes to myofibroblast differentiation and extracellular matrix deposition. | NCBI Gene; PMID: 31097543 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 48.2 | High |
| Heart | 32.1 | Medium |
| Lung | 8.5 | Low |
| Liver | 2.3 | Not detected |
| Kidney | 15.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 62.4 | Neuronal lineage, high N-cadherin expression |
| MCF7 (breast cancer) | 4.1 | Low expression, epithelial phenotype |
| MDA-MB-231 (breast cancer) | 38.9 | High expression, mesenchymal phenotype |
| A549 (lung cancer) | 12.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76Cys) | Missense | <0.01% | Loss of adhesive function; associated with hereditary spastic paraplegia |
| c.1685G>A (p.Arg562His) | Missense | 0.02% | Reduced cell-cell adhesion; reported in cancer |
| c.2233_2235del (p.Val745del) | In-frame deletion | <0.01% | Dominant-negative effect; disrupts cadherin dimerization |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that impair calcium binding or extracellular domain folding, reducing adhesion (e.g., p.Arg76Cys).
Gain of Function (GOF)
Overexpression or activating mutations that enhance cell migration and invasion, often seen in cancer (e.g., promoter hypomethylation).
Dominant Negative (DN)
Deletions or truncations that interfere with wild-type N-cadherin function, such as p.Val745del, leading to disrupted cell adhesion.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • cell-cell adhesion mediator activity |
| • cadherin binding | • homophilic cell adhesion via plasma membrane adhesion molecules |
| • cell adhesion | • neural crest cell migration |
| • cardiac muscle cell development |
Pathways
• Cadherin signaling pathway
• Wnt signaling pathway
• Epithelial-to-mesenchymal transition
• Cell adhesion molecules (CAMs)
• Adherens junction
Protein Summary
N-cadherin (UniProt P19022) is a 906-amino acid type I membrane protein with five extracellular cadherin repeats, a single transmembrane domain, and a cytoplasmic tail that binds catenins. It mediates homophilic cell-cell adhesion and is critical for tissue morphogenesis, synaptic plasticity, and tumor progression. Post-translational modifications include glycosylation and phosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH26 Knockout HEK293 Cell Line | EDJ-KQ980 | Human | 60437 | Details Get a Quote |
| CDH2 Knockout HEK293 Cell Line | EDJ-KQ2127 | Human | 1000 | Details Get a Quote |
| CDH20 Knockout HEK293 Cell Line | EDJ-KQ8857 | Human | 28316 | Details Get a Quote |
| CDH22 Knockout HEK293 Cell Line | EDJ-KQ12838 | Human | 64405 | Details Get a Quote |
| CDH23 Knockout HEK293 Cell Line | EDJ-KQ12839 | Human | 64072 | Details Get a Quote |
| CDH24 Knockout HEK293 Cell Line | EDJ-KQ12840 | Human | 64403 | Details Get a Quote |
| CDH23 Knockout A-549 Cell Line | EDJ-KQ41988 | Human | 64072 | Details Get a Quote |
| CDH24 Knockout A-549 Cell Line | EDJ-KQ41989 | Human | 64403 | Details Get a Quote |
| CDH24 Knockout HCT 116 Cell Line | EDJ-KQ41990 | Human | 64403 | Details Get a Quote |
| CDH24 Knockout HeLa Cell Line | EDJ-KQ41991 | Human | 64403 | Details Get a Quote |
| CDH2 Knockout A-549 Cell Line | EDJ-KQ22285 | Human | 1000 | Details Get a Quote |
| CDH2 Knockout HeLa Cell Line | EDJ-KQ22286 | Human | 1000 | Details Get a Quote |
| PCDH20 Knockout HEK293 Cell Line | EDJ-KQ51634 | Human | 64881 | Details Get a Quote |
| CDH20 Knockout HeLa Cell Line | EDJ-KQ56072 | Human | 28316 | Details Get a Quote |
| CDH26 Knockout HeLa Cell Line | EDJ-KQ56976 | Human | 60437 | Details Get a Quote |
Displaying Records 1 To 15 Of 28 Records
