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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CDH3
cadherin 3
Chromosome 16 Β· 16q22.1
NCBI Gene: 1001Ensembl: ENSG00000062038.16HGNC: HGNC:1762UniProt: B4DLF0
151PubMed Papers
22Diseases
1Drugs
56Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
Early PipelineOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of transforming growth factor beta receptor signaling pathwaypositive regulation of insulin-like growth factor receptor signaling pathwayretina homeostasispositive regulation of keratinocyte proliferationEEM syndromecongenital hypotrichosis with juvenile macular dystrophyHypotrichosis with juvenile macular degenerationRetinal dystrophy
✦AI Summary

CDH3 (cadherin 3) is a calcium-dependent cell adhesion protein that mediates homophilic cell-cell interactions through adherens junctions 1. The gene encodes P-cadherin, which functions in tissue integrity, cell localization, and cell sorting through Ξ²-catenin binding and catenin complex assembly. In normal tissues, CDH3 plays regulatory roles in retinal homeostasis, hair follicle maturation, and keratinization 2. Functionally, CDH3 can suppress hepatocellular carcinoma cell growth and migration via GSK-3Ξ² signaling when upregulated by the tumor suppressor KLF4 3. However, CDH3 is frequently elevated in multiple cancer types with pathological consequences. In lung adenocarcinoma, high CDH3 expression promotes epithelial-mesenchymal transition, glycolysis, hypoxia, tumor-associated macrophage infiltration, and immunosuppression, correlating with poor survival and reduced immunotherapy response 4. Similarly, CDH3 overexpression in colorectal cancer associates with metastasis, poor prognosis, and altered immune infiltration 5. CDH3 is uniformly expressed on pancreatic ductal adenocarcinoma cells, enabling targeted therapy with bispecific antibodies that simultaneously engage CDH3 and death receptors 6. Clinically, CDH3 mutations are associated with rare inherited disorders including ectodermal dysplasia with macular dystrophy 2 and superior canal dehiscence syndrome 1. CDH3 represents a promising biomarker and therapeutic target for cancer management.

Sources cited
1
CDH3 mutations identified in macular dystrophy patients; role in retinal homeostasis
PMID: 29555955
2
CDH3 variants associated with superior canal dehiscence syndrome risk
PMID: 29095749
3
CDH3 suppresses hepatocellular carcinoma growth and migration via GSK-3Ξ² signaling
PMID: 31182916
4
CDH3 drives lung adenocarcinoma progression through EMT, glycolysis, hypoxia, and immunosuppression
PMID: 40781712
5
CDH3 elevated in colorectal cancer, associated with metastasis and poor prognosis
PMID: 40155851
6
CDH3 uniformly expressed in pancreatic cancer, enables bispecific antibody targeting
PMID: 39654063
Disease Associationsβ“˜22
EEM syndromeOpen Targets
0.79Strong
congenital hypotrichosis with juvenile macular dystrophyOpen Targets
0.75Strong
Hypotrichosis with juvenile macular degenerationOpen Targets
0.73Strong
Retinal dystrophyOpen Targets
0.53Moderate
eye diseaseOpen Targets
0.37Weak
hypotrichosisOpen Targets
0.35Weak
Macular dystrophyOpen Targets
0.34Weak
hypotrichosis simplexOpen Targets
0.33Weak
hereditary diffuse gastric adenocarcinomaOpen Targets
0.33Weak
prostate carcinomaOpen Targets
0.33Weak
retinitis pigmentosaOpen Targets
0.32Weak
psoriasisOpen Targets
0.27Weak
nutritional deficiency diseaseOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
cutaneous melanomaOpen Targets
0.15Weak
neoplasmOpen Targets
0.13Weak
prostate cancerOpen Targets
0.12Weak
melanomaOpen Targets
0.12Weak
breast cancerOpen Targets
0.12Weak
Familial prostate cancerOpen Targets
0.11Weak
Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndromeUniProt
Hypotrichosis congenital with juvenile macular dystrophyUniProt
Pathogenic Variants56
NM_001793.6(CDH3):c.160+1G>APathogenic
not provided|Congenital hypotrichosis with juvenile macular dystrophy|Retinal dystrophy
β˜…β˜…β˜†β˜†2025
NM_001793.6(CDH3):c.307C>T (p.Arg103Ter)Pathogenic
Retinal dystrophy|not provided|Congenital hypotrichosis with juvenile macular dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 103
NM_001793.6(CDH3):c.316_317del (p.Lys106fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 106
NM_001793.6(CDH3):c.1508G>A (p.Arg503His)Pathogenic
Congenital hypotrichosis with juvenile macular dystrophy|not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2024β†’ Residue 503
NM_001793.6(CDH3):c.895C>T (p.Gln299Ter)Pathogenic
not provided|Hypotrichosis
β˜…β˜…β˜†β˜†2024β†’ Residue 299
NM_001793.6(CDH3):c.1086G>A (p.Trp362Ter)Pathogenic
not provided|Congenital hypotrichosis with juvenile macular dystrophy|Retinal dystrophy
β˜…β˜…β˜†β˜†2023β†’ Residue 362
NM_001793.6(CDH3):c.830del (p.Gly277fs)Pathogenic
EEM syndrome|Macular dystrophy|not provided|Congenital hypotrichosis with juvenile macular dystrophy
β˜…β˜…β˜†β˜†2023β†’ Residue 277
NM_001793.6(CDH3):c.661C>T (p.Arg221Ter)Pathogenic
not provided|Congenital hypotrichosis with juvenile macular dystrophy
β˜…β˜…β˜†β˜†2022β†’ Residue 221
NM_001793.6(CDH3):c.1085G>A (p.Trp362Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 362
NM_001793.6(CDH3):c.1677_1710del (p.Ser559fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 559
NM_001793.6(CDH3):c.1063G>T (p.Asp355Tyr)Likely pathogenic
Congenital hypotrichosis with juvenile macular dystrophy|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 355
NM_001793.6(CDH3):c.119_122del (p.Ala40fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 40
NM_001793.6(CDH3):c.2002+5G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001793.6(CDH3):c.2059dup (p.Leu687fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 687
NM_001793.6(CDH3):c.1837dup (p.Asp613fs)Pathogenic
not provided|Retinal dystrophy
β˜…β˜†β˜†β˜†2025β†’ Residue 613
NM_001793.6(CDH3):c.1202_1205del (p.Lys401fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 401
NM_001793.6(CDH3):c.401_403delinsTT (p.Asn134fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 134
NM_001793.6(CDH3):c.247-2A>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001793.6(CDH3):c.691+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001793.6(CDH3):c.691+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Drug Targets1
PF-03732010Phase I
Cadherin-3 inhibitor
neoplasm
Related Genes
CTNND1Protein interaction100%CTNNB1Protein interaction100%NPHS1Protein interaction99%CTNNA1Protein interaction98%CDH1Protein interaction97%CDH2Protein interaction97%
Tissue Expression6 tissues
Ovary
100%
Brain
9%
Lung
3%
Liver
1%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CDH3CTNND1CTNNB1NPHS1CTNNA1CDH1CDH2
PROTEIN STRUCTURE
Preparing viewer…
PDB6ZTB Β· 1.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.82LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.66 [0.53–0.82]
RankingsWhere CDH3 stands among ~20K protein-coding genes
  • #2,991of 20,598
    Most Researched151 Β· top quartile
  • #1,225of 5,498
    Most Pathogenic Variants56 Β· top quartile
  • #6,978of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedCDH3
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
The biology, function, and applications of exosomes in cancer.
PMID: 34589397
Acta Pharm Sin B Β· 2021
1.00
2
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
PMID: 29555955
Sci Rep Β· 2018
0.90
3
Predicting potential therapeutic targets and small molecule drugs for early-stage lung adenocarcinoma.
PMID: 38555814
Biomed Pharmacother Β· 2024
0.80
4
Comprehensive multiplexed autoantibody profiling of patients with advanced urothelial cancer.
PMID: 38309723
J Immunother Cancer Β· 2024
0.76
5
CDH3 promotes the progression of lung adenocarcinoma through driving epithelial-mesenchymal transition progress.
PMID: 40781712
J Transl Med Β· 2025
0.70