HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CDH4
cadherin 4
Chromosome 20 · 20q13.33
NCBI Gene: 1002Ensembl: ENSG00000179242.16HGNC: HGNC:1763UniProt: P55283
64PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membranecell morphogenesiscatenin complexcell-cell junction assemblyalcohol drinkingsmoking initiationliver diseasemajor depressive disorder
✦AI Summary

CDH4 encodes R-cadherin, a calcium-dependent cell adhesion protein that primarily functions in homophilic cell-cell adhesion and tissue organization 1. The protein plays critical roles in normal development, particularly in ocular development where it is expressed in the optic fissure and periocular mesenchyme, with knockdown leading to coloboma phenotypes 2. CDH4 also contributes to neurological function, with elevated expression in multiple system atrophy brain tissue affecting α-synuclein levels in oligodendrocytes 3. In cancer contexts, CDH4 demonstrates complex roles: it acts as a tumor suppressor in gastrointestinal cancers through promoter methylation-mediated silencing 1, but functions oncogenically in osteosarcoma by promoting migration, invasion, and stemness through JNK/c-Jun pathway activation 4. In oral squamous cell carcinoma, CDH4 promotes proliferation and inhibits ferroptosis, correlating with poor patient survival 5. The gene also shows protective associations against bronchopulmonary dysplasia 6 and contains polymorphic Alu elements that contribute to human longevity 7. Additionally, CDH4 harbors a novel microRNA (hsa-miR-B43) with potential metastasis-related functions in breast cancer 8.

Sources cited
1
CDH4 encodes R-cadherin, functions in cell adhesion, and acts as tumor suppressor in gastrointestinal cancers
PMID: 15548679
2
CDH4 plays critical roles in ocular development and optic fissure morphogenesis
PMID: 35034853
3
CDH4 expression is elevated in multiple system atrophy brain tissue and affects α-synuclein levels
PMID: 38143373
4
CDH4 functions oncogenically in osteosarcoma through JNK/c-Jun pathway activation
PMID: 29610525
5
CDH4 promotes proliferation and inhibits ferroptosis in oral squamous cell carcinoma
PMID: 37237299
6
CDH4 shows protective associations against bronchopulmonary dysplasia
PMID: 39988826
7
CDH4 polymorphic Alu elements contribute to human longevity
PMID: 36362280
8
CDH4 harbors a novel microRNA with potential metastasis-related functions
PMID: 31489987
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.48Moderate
smoking initiationOpen Targets
0.43Moderate
liver diseaseOpen Targets
0.37Weak
major depressive disorderOpen Targets
0.34Weak
myopathyOpen Targets
0.34Weak
mathematical abilityOpen Targets
0.34Weak
depressive disorderOpen Targets
0.34Weak
pyogenic granulomaOpen Targets
0.33Weak
disorder of earOpen Targets
0.33Weak
sensorineural hearing lossOpen Targets
0.33Weak
placenta praeviaOpen Targets
0.33Weak
AlkalosisOpen Targets
0.31Weak
ocular hypotensionOpen Targets
0.31Weak
restless legs syndromeOpen Targets
0.31Weak
Abruptio PlacentaeOpen Targets
0.30Weak
bronchial diseaseOpen Targets
0.30Weak
systemic inflammatory response syndromeOpen Targets
0.29Weak
preeclampsiaOpen Targets
0.29Weak
ovarian neoplasmOpen Targets
0.29Weak
multiple sclerosisOpen Targets
0.28Weak
Pathogenic Variants1
NM_001794.5(CDH4):c.1976G>C (p.Arg659Pro)Likely pathogenic
Abnormal brain morphology
★☆☆☆→ Residue 659
View on ClinVar ↗
Related Genes
CDH22Shared pathway100%CDH24Shared pathway100%CDH26Shared pathway100%CDH18Shared pathway100%CDH15Shared pathway100%CDH12Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Brain
57%
Bone Marrow
5%
Liver
4%
Lung
3%
Heart
1%
Gene Interaction Network
Click a node to explore
CDH4CDH22CDH24CDH26CDH18CDH15CDH12
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P55283
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.54Intermediate
Observed/Expected LoF0.40 [0.30–0.53]
RankingsWhere CDH4 stands among ~20K protein-coding genes
  • #7,249of 20,598
    Most Researched64
  • #5,025of 5,498
    Most Pathogenic Variants1
  • #3,350of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedCDH4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis.
PMID: 35034853
Genet Med · 2022
1.00
2
Frequent aberrant methylation of the CDH4 gene promoter in human colorectal and gastric cancer.
PMID: 15548679
Cancer Res · 2004
0.90
3
CDH4 inhibits ferroptosis in oral squamous cell carcinoma cells.
PMID: 37237299
BMC Oral Health · 2023
0.80
4
CDH4 is a novel determinant of osteosarcoma tumorigenesis and metastasis.
PMID: 29610525
Oncogene · 2018
0.70
5
Understanding the Role of CDH4 in Multiple System Atrophy Brain.
PMID: 38143373
J Parkinsons Dis · 2023
0.60