CDH11: Cadherin 11 in Cell Adhesion and Disease
Comprehensive gene card for CDH11, a type II classical cadherin involved in osteoblast differentiation, cancer progression, and inflammatory disorders.
Gene Information Card
| Symbol | CDH11 |
|---|---|
| Full Name | Cadherin 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q21 |
| NCBI Gene ID | 1009 ncbi.nlm.nih.gov/gene/1009 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | P55287 |
| OMIM ID | 600023 |
| HGNC ID | 1750 |
| Aliases | OB-cadherin, OSF-4, CAD11, CDHOB |
Description
CDH11 encodes cadherin 11, a type II classical cadherin transmembrane glycoprotein that mediates calcium-dependent cell-cell adhesion. It is predominantly expressed in osteoblasts, mesenchymal stem cells, and certain cancer cells. CDH11 plays critical roles in bone development, joint formation, and tumor progression, particularly in synovial sarcoma and breast cancer metastasis. Mutations and altered expression of CDH11 are associated with various diseases, including craniosynostosis and inflammatory arthritis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Synovial sarcoma | Fusion of CDH11 with SS18 (SS18-SSX) leads to aberrant cell adhesion and oncogenic signaling. | PMID: 15657431; COSMIC |
| Breast cancer | Overexpression of CDH11 promotes invasion and metastasis through increased cell motility. | PMID: 19137020; NCBI Gene |
| Craniosynostosis | Loss-of-function mutations in CDH11 impair osteoblast adhesion and skull suture fusion. | PMID: 27354352; OMIM #600023 |
| Rheumatoid arthritis | Upregulation of CDH11 in synovial fibroblasts contributes to joint inflammation and pannus formation. | PMID: 17947536; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 45.2 | High |
| Cartilage | 38.7 | High |
| Lung | 12.1 | Medium |
| Breast | 8.5 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MG-63 (osteosarcoma) | 62.4 | High expression; osteoblast-like |
| MCF-7 (breast cancer) | 15.8 | Moderate expression; associated with invasive phenotype |
| SW982 (synovial sarcoma) | 78.1 | Very high; endogenous CDH11 |
| HEK293 (embryonic kidney) | 3.2 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Ter) | Nonsense | Rare | Loss of function; associated with craniosynostosis |
| c.1586G>A (p.Arg529His) | Missense | 0.01% (gnomAD) | Unknown significance; reported in ClinVar |
| SS18-CDH11 fusion | Gene fusion | Specific to synovial sarcoma | Gain of function; drives oncogenesis |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg375Ter) lead to truncated protein, impairing cell adhesion and causing craniosynostosis.
Gain of Function (GOF)
SS18-CDH11 fusion in synovial sarcoma results in constitutive activation of cell adhesion pathways promoting tumor growth.
Dominant Negative (DN)
Missense mutations in the extracellular cadherin repeats (e.g., p.Arg529His) may disrupt homophilic binding and interfere with wild-type cadherin function.
View complete mutation data：
Gene Ontology (GO)
| • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) | • calcium ion binding (GO:0005509) |
| • integral component of membrane (GO:0016021) | • adherens junction (GO:0005912) |
| • cell differentiation (GO:0030154) | • cell adhesion (GO:0007155) |
Pathways
• Cadherin signaling pathway (KEGG: hsa04520)
• Adherens junction (KEGG: hsa04520)
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Cell-cell junction organization (Reactome: R-HSA-421270)
Protein Summary
Cadherin 11 is a 796-amino acid type II classical cadherin with an extracellular domain containing 5 cadherin repeats, a single transmembrane domain, and a cytoplasmic tail that binds catenins. It mediates homophilic cell-cell adhesion in a calcium-dependent manner. The protein is essential for osteoblast differentiation and bone formation. In cancer, CDH11 can promote invasion and metastasis, while in synovial sarcoma, it forms an oncogenic fusion with SS18. Post-translational modifications include glycosylation and phosphorylation, which modulate adhesion strength and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH11 Knockout HEK293 Cell Line | EDJ-KQ4243 | Human | 1009 | Details Get a Quote |
| PCDH11X Knockout HEK293 Cell Line | EDJ-KQ8010 | Human | 27328 | Details Get a Quote |
| PCDH11Y Knockout HEK293 Cell Line | EDJ-KQ9837 | Human | 83259 | Details Get a Quote |
| CDH11 Knockout HeLa Cell Line | EDJ-KQ26714 | Human | 1009 | Details Get a Quote |
| PCDH11X Knockout HeLa Cell Line | EDJ-KQ56058 | Human | 27328 | Details Get a Quote |
| PCDH11Y Knockout HeLa Cell Line | EDJ-KQ57430 | Human | 83259 | Details Get a Quote |
| CDH11 Knockout A-549 Cell Line | EDJ-KQ61324 | Human | 1009 | Details Get a Quote |
| PCDH11X Knockout A-549 Cell Line | EDJ-KQ64542 | Human | 27328 | Details Get a Quote |
| PCDH11Y Knockout A-549 Cell Line | EDJ-KQ65935 | Human | 83259 | Details Get a Quote |
| CDH11 Knockout HCT 116 Cell Line | EDJ-KQ69822 | Human | 1009 | Details Get a Quote |
| PCDH11X Knockout HCT 116 Cell Line | EDJ-KQ73001 | Human | 27328 | Details Get a Quote |
| PCDH11Y Knockout HCT 116 Cell Line | EDJ-KQ74361 | Human | 83259 | Details Get a Quote |
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