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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CDH16
cadherin 16
Chromosome 16 · 16q22.1
NCBI Gene: 1014Ensembl: ENSG00000166589.14HGNC: HGNC:1755UniProt: O75309
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeprotein bindingsynapseplasma membranealcohol drinkingpapillary thyroid carcinomahypertensionrenal cell carcinoma
✦AI Summary

CDH16 (cadherin 16) is a calcium-dependent cell adhesion protein primarily expressed in renal proximal tubular epithelial cells and thyroid tissue 12. As a homophilic cell adhesion molecule, CDH16 localizes to the basolateral plasma membrane where it facilitates cell-cell adhesion and contributes to maintaining epithelial cell differentiation and organization 2. CDH16 expression is developmentally regulated, appearing early in embryonic kidney and thyroid development and remaining dependent on TSH in differentiated thyrocytes 2. Clinically, CDH16 serves as a diagnostic marker for renal and thyroid malignancies. It is downregulated in papillary thyroid carcinomas (7% positive versus 100% in normal thyroid) and various renal cell carcinomas, with loss suggesting epithelial-mesenchymal transition 21. CDH16 demonstrates 85.3% sensitivity and 95.7% specificity for identifying renal tumors, improving to 96.8% specificity when combined with PAX8 3. CDH16 is also implicated in retinal dystrophy as a novel disease candidate 4 and serves as a kidney-specific promoter for gene editing studies in mouse models 56. Additionally, CDH16 expression in proximal tubular epithelial cells reflects their differentiation status, with loss correlating to lipotoxicity-induced dedifferentiation in metabolic kidney disease 7.

Sources cited
1
CDH16 colocalizes with E-cadherin on basolateral membrane, is TSH-dependent, expressed during thyroid development, and strongly downregulated in thyroid carcinomas
PMID: 22028439
2
CDH16 immunohistochemistry is useful for distinguishing papillary thyroid carcinomas and renal cell carcinomas, with expression patterns varying by tumor type
PMID: 37558687
3
CDH16 shows 85.3% sensitivity and 95.7% specificity for renal tumors; combination with PAX8 increases specificity to 96.8%
PMID: 39105782
4
CDH16 identified as a novel disease candidate gene for retinal dystrophies
PMID: 26355662
5
CDH16 serves as a kidney-specific promoter for CRISPR-based somatic gene editing in mice
PMID: 39365820
6
CDH16 is a marker of proximal tubular epithelial cell differentiation in lipotoxicity and metabolic kidney disease
PMID: 39675352
7
CDH16-Cre transgenic mice are used to generate kidney-specific conditional knockouts for studying renal fibrosis
PMID: 40200371
8
CDH16-Cre transgenic mice used to create kidney tubule-specific knockout models for studying polycystic kidney disease
PMID: 39229897
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.24Weak
papillary thyroid carcinomaOpen Targets
0.10Weak
hypertensionOpen Targets
0.09Suggestive
renal cell carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
Treacher-Collins syndromeOpen Targets
0.07Suggestive
Sjogren syndromeOpen Targets
0.07Suggestive
infectious arthritisOpen Targets
0.06Suggestive
essential hypertensionOpen Targets
0.06Suggestive
response to xenobiotic stimulusOpen Targets
0.03Suggestive
chromophobe renal cell carcinomaOpen Targets
0.03Suggestive
thyroid carcinomaOpen Targets
0.03Suggestive
atrial fibrillationOpen Targets
0.03Suggestive
clear cell renal carcinomaOpen Targets
0.02Suggestive
atrial flutterOpen Targets
0.02Suggestive
transitional cell carcinoma of kidneyOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
Crohn's diseaseOpen Targets
0.02Suggestive
cystOpen Targets
0.02Suggestive
kidney oncocytomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DSC3Shared pathway100%DSG4Shared pathway75%CDHR4Shared pathway67%KIRREL2Shared pathway67%PCDH11YShared pathway67%PCDH20Shared pathway67%
Tissue Expression6 tissues
Heart
100%
Liver
50%
Lung
30%
Brain
30%
Ovary
20%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CDH16DSC3DSG4CDHR4KIRREL2PCDH11YPCDH20
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O75309
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.74–1.08]
RankingsWhere CDH16 stands among ~20K protein-coding genes
  • #12,524of 20,598
    Most Researched27
  • #10,952of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedCDH16
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
PMID: 26355662
Genet Med · 2016
1.00
2
Toward a CRISPR-based mouse model of
PMID: 39365820
Proc Natl Acad Sci U S A · 2024
0.90
3
AMPK protects proximal tubular epithelial cells from lysosomal dysfunction and dedifferentiation induced by lipotoxicity.
PMID: 39675352
Autophagy · 2025
0.80
4
REST contributes to renal fibrosis through inducing mitochondrial energy metabolism imbalance in tubular epithelial cells.
PMID: 40200371
Cell Commun Signal · 2025
0.70
5
Cadherin-16 (CDH16) immunohistochemistry: a useful diagnostic tool for renal cell carcinoma and papillary carcinomas of the thyroid.
PMID: 37558687
Sci Rep · 2023
0.60