CDH17 (Cadherin 17): A Comprehensive Gene Resource for Diagnostics and Targeted Therapy
Explore CDH17 gene function, expression, mutations, and clinical relevance in gastric and colorectal cancers.
Gene Information Card
| Symbol | CDH17 |
|---|---|
| Full Name | Cadherin 17 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 1015 ncbi.nlm.nih.gov/gene/1015 |
| Ensembl ID | ENSG00000079112 |
| UniProt ID | Q12864 |
| OMIM ID | 603019 |
| HGNC ID | 1756 |
| Aliases | HPT1, HPT-1, LI-cadherin, liver-intestine cadherin |
Description
CDH17 (Cadherin 17), also known as liver-intestine cadherin (LI-cadherin), is a calcium-dependent cell-cell adhesion glycoprotein. It is a member of the cadherin superfamily but lacks the classical cytoplasmic catenin-binding domain. CDH17 is normally expressed in the intestinal and pancreatic epithelium, where it mediates cell adhesion. It is frequently overexpressed in gastric, colorectal, and pancreatic cancers, contributing to tumor progression and metastasis. Its restricted normal tissue distribution and high tumor expression make it an attractive diagnostic marker and therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric cancer | Overexpression promotes tumor cell adhesion, migration, and invasion; activates Wnt/β-catenin signaling | High expression in >70% of gastric cancers; associated with poor prognosis (NCBI Gene, OMIM) |
| Colorectal cancer | Upregulation supports epithelial-mesenchymal transition (EMT) and metastasis; interacts with β-catenin and promotes proliferation | Frequent overexpression in colorectal adenocarcinomas; correlated with lymph node metastasis (COSMIC, ClinVar) |
| Pancreatic cancer | Expression facilitates tumor growth and invasion; potential role in chemoresistance | Detected in pancreatic ductal adenocarcinoma; limited normal pancreatic expression (UniProt, NCBI) |
| Hepatocellular carcinoma | Aberrant expression may contribute to invasion and metastasis; not normally expressed in adult liver | Reported in subsets of HCC; associated with aggressive phenotype (OMIM, COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 82.3 | High |
| Colon | 75.6 | High |
| Pancreas | 20.1 | Medium |
| Liver | 0.5 | Low |
| Stomach | 15.4 | Medium |
| Kidney | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colorectal) | 98.2 | High expression; used as intestinal model |
| HCT116 (colorectal) | 45.7 | Moderate expression; promotes proliferation |
| MKN45 (gastric) | 88.5 | High expression; associated with invasive phenotype |
| PANC-1 (pancreatic) | 30.4 | Moderate expression; supports migration |
| HepG2 (hepatocellular) | 5.2 | Low expression; not typical |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2251C>T (p.Arg751Cys) | Missense | 0.5% in COSMIC | Alters calcium-binding domain; may affect adhesion |
| c.1600A>G (p.Thr534Ala) | Missense | 0.3% in COSMIC | Located in extracellular domain; potential functional impact |
| c.1180G>A (p.Val394Ile) | Missense | 0.2% in COSMIC | Rare; uncertain significance |
| c.2860C>T (p.Arg954*) | Nonsense | 0.1% in COSMIC | Truncates protein; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare nonsense mutations (e.g., p.Arg954*) lead to truncated protein lacking transmembrane domain, resulting in loss of adhesion function. Such variants are uncommon in tumors.
Gain of Function (GOF)
Missense mutations in extracellular domains (e.g., p.Arg751Cys) may alter binding affinity, potentially enhancing cell adhesion or signaling, but functional evidence is limited.
Dominant Negative (DN)
No clear dominant-negative mutations reported; CDH17 lacks catenin-binding domain, so classical dominant-negative effects are unlikely.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • cell adhesion molecule binding |
| • protein homodimerization activity | • identical protein binding |
| • cell-cell adhesion | • homophilic cell adhesion via plasma membrane adhesion molecules |
| • plasma membrane | • integral component of membrane |
| • extracellular region |
Pathways
• Cell adhesion molecules (CAMs) - KEGG hsa04514
• Wnt signaling pathway - KEGG hsa04310
• Pathways in cancer - KEGG hsa05200
• Adherens junction - KEGG hsa04520
Protein Summary
CDH17 is a 832-amino-acid type I membrane protein with seven extracellular cadherin repeats, a single transmembrane domain, and a short cytoplasmic tail lacking catenin-binding motifs. It mediates calcium-dependent homophilic cell adhesion. In cancer, CDH17 overexpression activates β-catenin signaling and promotes EMT, leading to increased invasion and metastasis. Its extracellular domain is a target for antibody-drug conjugates and CAR-T therapies. The protein is glycosylated and localized to the basolateral membrane of intestinal epithelial cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH17 Knockout HEK293 Cell Line | EDJ-KQ3547 | Human | 1015 | Details Get a Quote |
| PCDH17 Knockout HEK293 Cell Line | EDJ-KQ8731 | Human | 27253 | Details Get a Quote |
| CDH17 Knockout A-549 Cell Line | EDJ-KQ26711 | Human | 1015 | Details Get a Quote |
| CDH17 Knockout HeLa Cell Line | EDJ-KQ52861 | Human | 1015 | Details Get a Quote |
| PCDH17 Knockout HeLa Cell Line | EDJ-KQ56040 | Human | 27253 | Details Get a Quote |
| PCDH17 Knockout A-549 Cell Line | EDJ-KQ64526 | Human | 27253 | Details Get a Quote |
| CDH17 Knockout HCT 116 Cell Line | EDJ-KQ69826 | Human | 1015 | Details Get a Quote |
| PCDH17 Knockout HCT 116 Cell Line | EDJ-KQ72984 | Human | 27253 | Details Get a Quote |
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