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GeneE
10 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.
CDH11
cadherin 11
Chromosome 16 Β· 16q21
NCBI Gene: 1009Ensembl: ENSG00000140937.14HGNC: HGNC:1750UniProt: H3BUU9
103PubMed Papers
22Diseases
0Drugs
14Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell-substrate adhesionnegative regulation of cell migrationextracellular exosomefocal adhesion assemblyTeebi hypertelorism syndrome 2Elsahy-Waters syndromeBranchio-skeleto-genital syndromeopen-angle glaucoma
✦AI Summary

CDH11 (cadherin 11) is a calcium-dependent cell adhesion protein that functions primarily in homophilic cell-cell adhesion and plays critical roles in both normal development and disease pathogenesis 1. In normal physiology, CDH11 mediates cell adhesion, migration regulation, and focal adhesion assembly. However, CDH11 exhibits context-dependent functions in disease. In rheumatoid arthritis, CDH11-expressing fibroblast subsets are significantly expanded and localize to perivascular zones, where they secrete proinflammatory cytokines and exhibit invasive characteristics 1. In pancreatic cancer, CDH11 expressed by cancer-associated fibroblasts promotes immunosuppression and extracellular matrix deposition, supporting tumor growth and gemcitabine resistance 2. CDH11 also facilitates breast cancer bone metastasis through enhanced translation mediated by YTHDF1 3, and promotes dormancy programs in early disseminated breast cancer cells that prevent metastatic outgrowth 4. Conversely, in head and neck squamous cell carcinoma, CDH11 functions as a tumor suppressor, inhibiting proliferation and invasion 5. These findings highlight CDH11's dual nature as both a pathogenic mediator in inflammatory and fibrotic diseases and a context-dependent regulator of cancer progression, making it a potential therapeutic target across multiple disease contexts.

Sources cited
1
CDH11-expressing fibroblast subsets are expanded in rheumatoid arthritis and exhibit proinflammatory and invasive characteristics
PMID: 29476097
2
CDH11 in pancreatic cancer-associated fibroblasts promotes immunosuppression, extracellular matrix deposition, and gemcitabine resistance
PMID: 33307028
3
CDH11 facilitates breast cancer bone metastasis through YTHDF1-mediated enhanced translation
PMID: 38871245
4
CDH11 upregulation is linked to mesenchymal-like dormancy programs in early disseminated breast cancer cells
PMID: 36050483
5
CDH11 functions as a tumor suppressor in head and neck squamous cell carcinoma by inhibiting proliferation and invasion
PMID: 27397103
Disease Associationsβ“˜22
Teebi hypertelorism syndrome 2Open Targets
0.74Strong
Elsahy-Waters syndromeOpen Targets
0.72Strong
Branchio-skeleto-genital syndromeOpen Targets
0.66Moderate
open-angle glaucomaOpen Targets
0.49Moderate
esophageal adenocarcinomaOpen Targets
0.38Weak
pancreatic ductal adenocarcinomaOpen Targets
0.38Weak
aneurysmal bone cystOpen Targets
0.38Weak
Teebi hypertelorism syndromeOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
pancreatic carcinomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
Hypertelorism, Teebi typeOpen Targets
0.37Weak
kidney neoplasmOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
prostate adenocarcinomaOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
Elsahy-Waters syndromeUniProt
Teebi hypertelorism syndrome 2UniProt
Pathogenic Variants14
NM_001797.4(CDH11):c.778G>A (p.Asp260Asn)Pathogenic
Teebi hypertelorism syndrome 2|Elsahy-Waters syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 260
NM_001797.4(CDH11):c.778G>C (p.Asp260His)Likely pathogenic
Elsahy-Waters syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 260
NM_001797.4(CDH11):c.1096del (p.Asp366fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 366
NM_001797.4(CDH11):c.1639C>T (p.Arg547Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 547
NM_001797.4(CDH11):c.1895-599A>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2020
NM_001797.4(CDH11):c.229C>T (p.Leu77Phe)Likely pathogenic
Teebi hypertelorism syndrome 2
β˜†β˜†β˜†β˜†2023β†’ Residue 77
NM_001797.4(CDH11):c.835G>C (p.Glu279Gln)Pathogenic
Teebi hypertelorism syndrome 2
β˜†β˜†β˜†β˜†2022β†’ Residue 279
NM_001797.4(CDH11):c.164G>C (p.Trp55Ser)Pathogenic
Teebi hypertelorism syndrome 2
β˜†β˜†β˜†β˜†2022β†’ Residue 55
NM_001797.4(CDH11):c.780T>A (p.Asp260Glu)Pathogenic
Teebi hypertelorism syndrome 2
β˜†β˜†β˜†β˜†2022β†’ Residue 260
NM_001797.4(CDH11):c.1121T>A (p.Val374Glu)Pathogenic
Teebi hypertelorism syndrome 2
β˜†β˜†β˜†β˜†2022β†’ Residue 374
NM_001797.4(CDH11):c.979G>T (p.Gly327Trp)Pathogenic
Teebi hypertelorism syndrome 2
β˜†β˜†β˜†β˜†2022β†’ Residue 327
NM_001797.4(CDH11):c.696C>G (p.Tyr232Ter)Pathogenic
Elsahy-Waters syndrome
β˜†β˜†β˜†β˜†2018β†’ Residue 232
NM_001797.4(CDH11):c.999+1G>TPathogenic
Elsahy-Waters syndrome
β˜†β˜†β˜†β˜†2018
NM_001797.4(CDH11):c.1116_1117delinsGATCATCAG (p.Ile372fs)Pathogenic
Elsahy-Waters syndrome
β˜†β˜†β˜†β˜†2018β†’ Residue 372
View on ClinVar β†—
Related Genes
CTNND1Protein interaction100%CTNNB1Protein interaction100%CTNNA1Protein interaction98%CTNNA2Protein interaction93%JUPProtein interaction80%CDH2Protein interaction77%
Tissue Expression6 tissues
Ovary
100%
Lung
22%
Heart
10%
Brain
7%
Bone Marrow
1%
Liver
1%
Gene Interaction Network
Click a node to explore
CDH11CTNND1CTNNB1CTNNA1CTNNA2JUPCDH2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P55287
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.25Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.14 [0.08–0.25]
RankingsWhere CDH11 stands among ~20K protein-coding genes
  • #4,637of 20,598
    Most Researched103 Β· top quartile
  • #2,508of 5,498
    Most Pathogenic Variants14
  • #763of 17,882
    Most Constrained (LOEUF)0.25 Β· top 5%
Genes detectedCDH11
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Restoring synovial homeostasis in rheumatoid arthritis by targeting fibroblast-like synoviocytes.
PMID: 32393826
Nat Rev Rheumatol Β· 2020
1.00
2
Functionally distinct disease-associated fibroblast subsets in rheumatoid arthritis.
PMID: 29476097
Nat Commun Β· 2018
0.90
3
YTHDF1 promotes the osteolytic bone metastasis of breast cancer via inducing EZH2 and CDH11 translation.
PMID: 38871245
Cancer Lett Β· 2024
0.80
4
Cadherin 11 Promotes Immunosuppression and Extracellular Matrix Deposition to Support Growth of Pancreatic Tumors and Resistance to Gemcitabine in Mice.
PMID: 33307028
Gastroenterology Β· 2021
0.70
5
CDH11 inhibits proliferation and invasion in head and neck cancer.
PMID: 27397103
J Oral Pathol Med Β· 2017
0.60