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9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CDH20
cadherin 20
Chromosome 18 · 18q21.33
NCBI Gene: 28316Ensembl: ENSG00000101542.10HGNC: HGNC:1760UniProt: A8K2C5
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell-cell adhesion mediated by cadherincell morphogenesisadherens junctioncell-cell junction assemblysialolithiasisbrain compressioneye injuryedema
✦AI Summary

CDH20 (cadherin 20) is a calcium-dependent cell adhesion protein located on chromosome 18-q23 1. As a classical cadherin, it mediates homophilic cell-cell adhesion through β-catenin interactions, contributing to cellular compartmentalization and neural development 2. During embryogenesis, CDH20 is expressed in the developing forebrain, visual system, cerebellum, and neural crest cells destined to become melanoblasts 2. Clinically, CDH20 functions as a tumor suppressor. In cervical cancer, CDH20 is downregulated and its expression negatively correlates with disease progression 3. Mechanistically, CDH20 suppresses epithelial-to-mesenchymal transition (EMT) by interacting with β-catenin to inhibit the TGF-β/Smad/Snail signaling pathway, thereby reducing cancer cell migration and invasion 3. CDH20 mutations occur early in colorectal tumorigenesis, suggesting alterations in cell adhesion pathways are fundamental to adenoma formation 4. Additionally, CDH20 serves as a prognostic marker in glioma, with differential methylation patterns predicting patient outcomes 5. Genome-wide association studies implicate CDH20 variants in obsessive-compulsive disorder susceptibility 6, and DNA methylation at CDH20 mediates birthweight differences in assisted reproductive technology-conceived infants 7.

Sources cited
1
CDH20 is a novel cadherin gene located on chromosome 18q22-q23 with homology to Xenopus F-cadherin and mouse cadherin-7
PMID: 10995570
2
CDH20 is expressed during embryogenesis in forebrain, visual system, cerebellum, and neural crest cells; absent in melanoma cell lines but present in normal melanocytes
PMID: 15273735
3
CDH20 is downregulated in cervical cancer, inhibits cell migration and invasion via β-catenin interaction, and suppresses TGF-β/Smad/SNAIL-mediated EMT
PMID: 31998642
4
CDH20 mutations occur in colorectal adenomas, indicating early genetic alterations in cell adhesion pathways during tumorigenesis
PMID: 23301059
5
CDH20 differential methylation serves as a prognostic factor in glioma
PMID: 32987560
6
CDH20 variants are associated with obsessive-compulsive disorder susceptibility in genome-wide association studies
PMID: 28761083
7
CDH20 DNA methylation mediates birthweight differences between assisted reproductive technology-conceived and naturally conceived infants
PMID: 36443807
8
CDH20 copy-number loss detected at 18q21.32 in Barrett's esophageal adenocarcinoma
PMID: 18663352
Disease Associationsⓘ20
brain compressionOpen Targets
0.32Weak
sialolithiasisOpen Targets
0.32Weak
eye injuryOpen Targets
0.32Weak
edemaOpen Targets
0.31Weak
placenta praeviaOpen Targets
0.30Weak
Corneal opacityOpen Targets
0.28Weak
Abnormality of the gastrointestinal tractOpen Targets
0.28Weak
ovarian dysfunctionOpen Targets
0.28Weak
JaundiceOpen Targets
0.27Weak
smoking initiationOpen Targets
0.26Weak
sprainOpen Targets
0.25Weak
joint diseaseOpen Targets
0.25Weak
VitiligoOpen Targets
0.22Weak
Failure to thriveOpen Targets
0.21Weak
obesityOpen Targets
0.20Weak
cataractOpen Targets
0.19Weak
celiac diseaseOpen Targets
0.19Weak
chondromalaciaOpen Targets
0.18Weak
pyogenic granulomaOpen Targets
0.16Weak
cervical carcinomaOpen Targets
0.14Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDH7Shared pathway100%CDH22Shared pathway100%CDH24Shared pathway100%CDH26Shared pathway100%CDH19Shared pathway100%CDHR3Shared pathway89%
Tissue Expression6 tissues
Brain
100%
Heart
2%
Ovary
1%
Lung
1%
Liver
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CDH20CDH7CDH22CDH24CDH26CDH19CDHR3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N9J3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.72Intermediate
Observed/Expected LoF0.39 [0.29–0.53]
RankingsWhere CDH20 stands among ~20K protein-coding genes
  • #16,703of 20,598
    Most Researched11
  • #3,342of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedCDH20
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Characterization of three novel human cadherin genes (CDH7, CDH19, and CDH20) clustered on chromosome 18q22-q23 and with high homology to chicken cadherin-7.
PMID: 10995570
Genomics · 2000
1.00
2
Revealing the complex genetic architecture of obsessive-compulsive disorder using meta-analysis.
PMID: 28761083
Mol Psychiatry · 2018
0.89
3
The Interaction of CDH20 With β-Catenin Inhibits Cervical Cancer Cell Migration and Invasion via TGF-β/Smad/SNAIL Mediated EMT.
PMID: 31998642
Front Oncol · 2019
0.78
4
An examination of mediation by DNA methylation on birthweight differences induced by assisted reproductive technologies.
PMID: 36443807
Clin Epigenetics · 2022
0.67
5
Prognostic factor identification by analysis of the gene expression and DNA methylation data in glioma.
PMID: 32987560
Math Biosci Eng · 2020
0.56