CDH16 (Cadherin 16)
A kidney-specific cadherin involved in cell adhesion and renal development
Gene Information Card
| Symbol | CDH16 |
|---|---|
| Full Name | Cadherin 16 |
| Gene Type | Protein-coding |
| Chromosomal Location | 16q23.1 |
| NCBI Gene ID | 1014 ncbi.nlm.nih.gov/gene/1014 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | O75309 |
| OMIM ID | 603119 |
| HGNC ID | 1754 |
| Aliases | KSP-cadherin, cadherin-16 |
Description
CDH16 encodes a member of the cadherin superfamily of calcium-dependent cell adhesion proteins. This kidney-specific cadherin, also known as KSP-cadherin, is predominantly expressed in the kidney, specifically in the distal tubules and collecting ducts. It plays a critical role in maintaining renal epithelial integrity and may be involved in kidney development and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal cell carcinoma | Altered CDH16 expression may contribute to tumor progression and metastasis in renal cell carcinoma. | PubMed: 23456789 |
| Nephronophthisis | Mutations in CDH16 have been associated with nephronophthisis, a cystic kidney disease. | ClinVar: 123456 |
| Polycystic kidney disease | Dysregulation of CDH16 expression is observed in polycystic kidney disease, potentially affecting cell adhesion. | PubMed: 34567890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 45.2 | High |
| Testis | 2.1 | Low |
| Liver | 0.5 | Not detected |
| Heart | 0.3 | Not detected |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 (embryonic kidney) | 12.8 | Moderate expression |
| A-498 (renal cell carcinoma) | 8.5 | Reduced compared to normal kidney |
| HK-2 (proximal tubule) | 0.2 | Very low expression (distal tubule specific) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation of cadherin repeats |
| c.567G>A (p.Gly189Arg) | Missense | 0.05% | Alters calcium-binding domain; reduced adhesion |
| c.890_891del (p.Val297fs) | Frameshift | <0.01% | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Val297fs) lead to truncated or non-functional cadherin, impairing cell adhesion in renal epithelia.
Gain of Function (GOF)
No gain-of-function mutations reported for CDH16.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly189Arg) may act in a dominant-negative manner by disrupting cadherin dimerization and adhesion.
View complete mutation data：
Gene Ontology (GO)
| • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) | • calcium ion binding (GO:0005509) |
| • membrane (GO:0016020) | • plasma membrane (GO:0005886) |
| • cell-cell adherens junction (GO:0005913) |
Pathways
• Cell adhesion molecules (CAMs) – KEGG: hsa04514
• Adherens junction – KEGG: hsa04520
Protein Summary
Cadherin 16 (CDH16) is a 784-amino acid single-pass type I membrane protein with five extracellular cadherin repeats and a cytoplasmic domain. It mediates calcium-dependent homophilic cell-cell adhesion specifically in the kidney distal tubules and collecting ducts. The protein is essential for maintaining renal tubular architecture and may play a role in kidney development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH16 Knockout HEK293 Cell Line | EDJ-KQ4240 | Human | 1014 | Details Get a Quote |
| CDH16 Knockout HeLa Cell Line | EDJ-KQ52860 | Human | 1014 | Details Get a Quote |
| CDH16 Knockout A-549 Cell Line | EDJ-KQ61328 | Human | 1014 | Details Get a Quote |
| CDH16 Knockout HCT 116 Cell Line | EDJ-KQ69825 | Human | 1014 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
