CDH3 (P-Cadherin): Genetics, Function, and Clinical Significance
A comprehensive overview of the CDH3 gene, its protein product P-cadherin, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | CDH3 |
|---|---|
| Full Name | Cadherin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 1001 ncbi.nlm.nih.gov/gene/1001 |
| Ensembl ID | ENSG00000062038 |
| UniProt ID | P22223 |
| OMIM ID | 114021 |
| HGNC ID | 1753 |
| Aliases | P-cadherin; CDHP; HJMD; PCAD |
Description
The CDH3 gene encodes P-cadherin, a classical cadherin that mediates calcium-dependent cell-cell adhesion. It is expressed in various epithelial tissues and plays roles in development, tissue morphogenesis, and cancer progression. Mutations in CDH3 are associated with hereditary disorders such as hypotrichosis with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, while aberrant expression is observed in several cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypotrichosis with juvenile macular dystrophy (HJMD) | Loss-of-function mutations in CDH3 lead to impaired cell adhesion in hair follicles and retinal pigment epithelium, causing progressive hair loss and macular degeneration. | OMIM #601553; ClinVar entries |
| Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM) | Similar to HJMD, mutations in CDH3 disrupt adhesion in ectodermal structures, leading to limb malformations, skin/hair defects, and retinal dystrophy. | OMIM #225280; ClinVar entries |
| Cancer (various types) | Altered CDH3 expression (often overexpression) is observed in breast, ovarian, gastric, and pancreatic cancers, contributing to tumor progression and metastasis. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | Not available | High expression in mammary epithelium |
| Skin | Not available | High expression in epidermis |
| Ovary | Not available | Moderate expression |
| Stomach | Not available | Moderate expression |
| Pancreas | Not available | Low expression |
| Retina | Not available | Expression in retinal pigment epithelium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF-7 (breast cancer) | Not available | Overexpressed |
| OVCAR-3 (ovarian cancer) | Not available | Overexpressed |
| A431 (epidermoid carcinoma) | Not available | High expression |
| HCT116 (colorectal cancer) | Not available | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.829G>A (p.Gly277Arg) | Missense | Rare | Loss of function; associated with HJMD |
| c.1102C>T (p.Arg368Ter) | Nonsense | Rare | Loss of function; associated with HJMD |
| c.1568delC (p.Pro523LeufsTer2) | Frameshift | Rare | Loss of function; associated with EEM |
| c.2243G>A (p.Arg748His) | Missense | Rare | Pathogenic; associated with EEM |
Mutation functional classification
Loss of Function (LOF)
Most CDH3 mutations are loss-of-function, leading to reduced or absent P-cadherin protein, impairing cell adhesion and causing developmental defects.
Gain of Function (GOF)
Gain-of-function mutations are not commonly reported; overexpression in cancer is often due to transcriptional upregulation rather than mutation.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with cadherin-mediated adhesion, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • cell adhesion |
| • cadherin binding | • cell-cell adhesion |
| • plasma membrane | • extracellular region |
Pathways
• Cell adhesion molecules (CAMs)
• Adherens junction
• Wnt signaling pathway
• Cadherin signaling pathway
Protein Summary
P-cadherin (CDH3) is a classical cadherin that forms calcium-dependent homophilic interactions to mediate cell-cell adhesion. It consists of an extracellular domain with five cadherin repeats, a single transmembrane domain, and a cytoplasmic tail that interacts with catenins to link to the actin cytoskeleton. P-cadherin is crucial for maintaining epithelial integrity and is involved in tissue morphogenesis. In cancer, aberrant expression can promote invasion and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH3 Knockout HEK293 Cell Line | EDJ-KQ3733 | Human | 1001 | Details Get a Quote |
| CDH3 Knockout HCT 116 Cell Line | EDJ-KQ25785 | Human | 1001 | Details Get a Quote |
| CDH3 Knockout HeLa Cell Line | EDJ-KQ52852 | Human | 1001 | Details Get a Quote |
| CDH3 Knockout A-549 Cell Line | EDJ-KQ61318 | Human | 1001 | Details Get a Quote |
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