CDH6 (Cadherin 6) Gene: Function, Expression, and Clinical Significance
Comprehensive biomedical overview of the CDH6 gene, including genomic context, protein function, tissue expression, associated diseases, and mutational landscape.
Gene Information Card
| Symbol | CDH6 |
|---|---|
| Full Name | Cadherin 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p13.3 |
| NCBI Gene ID | 1004 ncbi.nlm.nih.gov/gene/1004 |
| Ensembl ID | ENSG00000113368 |
| UniProt ID | P55285 |
| OMIM ID | 603007 |
| HGNC ID | 1763 |
| Aliases | CAD6, K-cadherin |
Description
CDH6 (cadherin 6) encodes a type II classical cadherin, a transmembrane glycoprotein that mediates calcium-dependent cell-cell adhesion. The protein is involved in embryonic development, tissue morphogenesis, and is frequently dysregulated in cancer, particularly in renal and ovarian carcinomas. CDH6 is also known as K-cadherin.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal cell carcinoma (clear cell) | CDH6 overexpression promotes tumor cell adhesion and invasion via β-catenin signaling | PMID: 25982910; COSMIC |
| Ovarian cancer | CDH6 upregulation correlates with peritoneal metastasis and poor prognosis | PMID: 23291362; ClinVar |
| Biliary tract cancer | CDH6 expression is associated with epithelial-mesenchymal transition and invasion | PMID: 27662646 |
| Congenital anomalies of the kidney and urinary tract (CAKUT) | Rare CDH6 missense variants impair cell adhesion, leading to developmental defects | PMID: 28416586; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 32.5 | High |
| Ovary | 18.2 | Medium |
| Liver | 12.1 | Medium |
| Lung | 8.4 | Low |
| Breast | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| 786-O (renal cell carcinoma) | 45.2 | High expression; used as model for CDH6 studies |
| A2780 (ovarian cancer) | 38.7 | Overexpressed; linked to peritoneal metastasis |
| HEK293 (embryonic kidney) | 22.1 | Basal expression; reference cell line |
| MCF7 (breast cancer) | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.1% | Impaired cell adhesion; reported in CAKUT (ClinVar) |
| c.1846C>T (p.Arg616Cys) | Missense | <0.1% | Reduced cadherin function; associated with renal anomalies |
| c.2113A>G (p.Thr705Ala) | Missense | 0.2% | Unknown significance; found in COSMIC for ovarian cancer |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Gly375Arg, p.Arg616Cys) reduce cell adhesion capacity, consistent with loss-of-function in developmental disorders.
Gain of Function (GOF)
Overexpression (not mutation) in renal and ovarian cancers suggests a gain-of-function role in tumor progression.
Dominant Negative (DN)
No dominant-negative mutations currently reported in CDH6.
View complete mutation data：
Gene Ontology (GO)
| • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) | • adherens junction (GO:0005912) |
| • calcium ion binding (GO:0005509) | • integral component of membrane (GO:0016021) |
| • plasma membrane (GO:0005886) |
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Wnt signaling pathway – KEGG hsa04310 (via β-catenin interaction)
• Epithelial-mesenchymal transition – Reactome R-HSA-6798695
Protein Summary
Cadherin 6 (CDH6) is a 790-amino acid type II classical cadherin with an extracellular domain containing 5 cadherin repeats, a transmembrane region, and a cytoplasmic domain that binds β-catenin. It mediates calcium-dependent homophilic cell adhesion and is critical for kidney and ovarian tissue architecture. The protein is overexpressed in several cancers, where it promotes invasion and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH6 Knockout HEK293 Cell Line | EDJ-KQ4234 | Human | 1004 | Details Get a Quote |
| CDH6 Knockout HeLa Cell Line | EDJ-KQ26705 | Human | 1004 | Details Get a Quote |
| CDH6 Knockout A-549 Cell Line | EDJ-KQ61320 | Human | 1004 | Details Get a Quote |
| CDH6 Knockout HCT 116 Cell Line | EDJ-KQ69817 | Human | 1004 | Details Get a Quote |
