CDH5 (Cadherin 5)
VE-Cadherin: Endothelial Adhesion and Vascular Integrity
Gene Information Card
| Symbol | CDH5 |
|---|---|
| Full Name | Cadherin 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 1003 ncbi.nlm.nih.gov/gene/1003 |
| Ensembl ID | ENSG00000179776 |
| UniProt ID | P33151 |
| OMIM ID | 601120 |
| HGNC ID | 1756 |
| Aliases | 7B4, VE-cadherin, CD144 |
Description
CDH5 encodes vascular endothelial cadherin (VE-cadherin), a calcium-dependent cell adhesion protein exclusively expressed in endothelial cells. It is a key component of adherens junctions, regulating vascular permeability, leukocyte extravasation, and angiogenesis. Loss of CDH5 function disrupts endothelial barrier integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Hemorrhagic Telangiectasia (HHT) | Impaired endothelial junction assembly due to CDH5 mutations leads to vascular malformations and fragility. | ClinVar; PMID: 31564432 |
| Vascular Malformations | Dominant-negative CDH5 variants cause defective adherens junctions, resulting in abnormal blood vessel formation. | OMIM #601120; PMID: 31564432 |
| Cancer (angiogenesis) | Reduced CDH5 expression in tumor endothelium correlates with increased vascular permeability and metastasis. | COSMIC; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 78.5 | High |
| Heart | 62.3 | High |
| Placenta | 55.1 | High |
| Kidney | 48.7 | Medium |
| Liver | 35.2 | Medium |
| Brain | 12.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 89.2 | Primary endothelial cell line; high CDH5 expression |
| HMEC-1 (microvascular endothelial) | 76.8 | Immortalized endothelial line; moderate-high expression |
| A549 (lung carcinoma) | 2.1 | Non-endothelial; very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1931G>A (p.Arg644His) | Missense | Rare | Dominant-negative; disrupts homophilic adhesion |
| c.2261C>T (p.Pro754Leu) | Missense | Rare | Loss of function; impairs junction localization |
| c.1687C>T (p.Arg563*) | Nonsense | Very rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg563*) lead to truncated, non-functional VE-cadherin, compromising endothelial barrier integrity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CDH5.
Dominant Negative (DN)
Missense variants such as p.Arg644His interfere with wild-type cadherin clustering, causing dominant-negative disruption of adherens junctions.
View complete mutation data：
Gene Ontology (GO)
| • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) | • cell-cell adhesion (GO:0016337) |
| • cell-cell adherens junction (GO:0005913) | • calcium ion binding (GO:0005509) |
| • plasma membrane (GO:0005886) |
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Adherens junction – KEGG hsa04520
• VEGF signaling pathway – KEGG hsa04370
Protein Summary
VE-cadherin (P33151) is a 784-amino acid transmembrane glycoprotein with five extracellular cadherin repeats, a single transmembrane domain, and a cytoplasmic tail that binds catenins. It forms calcium-dependent homophilic dimers at endothelial adherens junctions, linking to the actin cytoskeleton via beta-catenin and alpha-catenin. The protein is essential for vascular integrity, controlling permeability and angiogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH5 Knockout HEK293 Cell Line | EDJ-KQ3569 | Human | 1003 | Details Get a Quote |
| CDH5 Knockout HeLa Cell Line | EDJ-KQ52854 | Human | 1003 | Details Get a Quote |
| CDH5 Knockout A-549 Cell Line | EDJ-KQ61319 | Human | 1003 | Details Get a Quote |
| CDH5 Knockout HCT 116 Cell Line | EDJ-KQ69816 | Human | 1003 | Details Get a Quote |
