CDH17
Chr 8cadherin 17
Also known as: CDH16, HPT-1, HPT1
The protein is a calcium-dependent cell adhesion molecule that functions as an intestinal proton-dependent peptide transporter and contributes to morphological organization of the liver and intestine. Mutations cause congenital diarrheal disorders with early infantile onset, involving severe gastrointestinal dysfunction. The gene shows autosomal recessive inheritance and is not highly constrained against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
199 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 37 | 0 | 37 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 1 | 124 | 3 | 0 | 128 |
Likely Benign | 0 | 7 | 0 | 2 | 9 |
Benign | 0 | 3 | 0 | 2 | 5 |
| Total | 1 | 134 | 41 | 4 | 180 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CDH17 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Acetate and Age-associated Arterial Dysfunction
RECRUITINGClinical Study on the Safety and Preliminary Efficacy of CDH17/GUCY2C CAR-T in the Treatment of Patients With Advanced Colorectal Cancer
RECRUITINGDifferences in N-CAD Concentration and Brain Function Between Children With ASD and TD
RECRUITINGClonal Hematopoiesis in Giant Cell Arteritis
NOT YET RECRUITINGSafety and Preliminary Efficacy of Anti-CDH17 CAR-T Cell Therapy in Patients with CDH17-positive Advanced Solid Tumors
RECRUITINGThe Gastric Cancer Foundation: A Gastric Cancer Registry
RECRUITINGEarly Rebiopsy to Identify Biomarkers of Tumor Cell Survival Following EGFR, ALK, ROS1 or BRAF TKI Therapy
RECRUITINGEffect of Sirolimus on Molecular Alterations in Cerebral Aneurysms
RECRUITINGExpression of Epithelial-Mesenchymal Transition Associated Markers in Peri-implant Tissues
RECRUITINGCDH17 CAR-T Therapy in Advanced Malignant Solid Tumors
RECRUITINGExternal Resources
Links to major genomics databases and tools