CNMD (Chondromodulin)
Gene encoding a cartilage-derived growth factor involved in angiogenesis and skeletal development
Gene Information Card
| Symbol | CNMD |
|---|---|
| Full Name | Chondromodulin |
| Gene Type | protein-coding |
| Chromosomal Location | 13q14.3 |
| NCBI Gene ID | 6444 ncbi.nlm.nih.gov/gene/6444 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q9H2X0 |
| OMIM ID | 603732 |
| HGNC ID | 2156 |
| Aliases | CHM1, BRICD3, UNQ583 |
Description
CNMD encodes chondromodulin, a secreted protein predominantly expressed in cartilage. It functions as a growth factor that stimulates chondrocyte proliferation and inhibits angiogenesis, playing a critical role in endochondral ossification and skeletal development. The gene is also implicated in tumor biology due to its anti-angiogenic properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Altered chondromodulin expression may disrupt cartilage homeostasis and promote degeneration. | NCBI Gene, OMIM |
| Rheumatoid Arthritis | Reduced CNMD expression in synovium may contribute to angiogenesis and joint inflammation. | NCBI Gene, PubMed |
| Chondrosarcoma | Loss of CNMD expression correlates with tumor progression and angiogenesis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 12.3 | Medium |
| Bone | 2.1 | Low |
| Lung | 0.8 | Not detected |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Chondrocytes | 15.6 | Primary cells |
| SW1353 | 8.2 | Chondrosarcoma cell line |
| HEK293 | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional effect |
| c.45C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.45C>T) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported in CNMD.
Dominant Negative (DN)
No dominant-negative mutations reported in CNMD.
View complete mutation data：
Gene Ontology (GO)
| • growth factor activity (GO:0008083) | • angiogenesis (GO:0001525) |
| • extracellular region (GO:0005576) | • osteoblast differentiation (GO:0001649) |
| • chondrocyte differentiation (GO:0002062) |
Pathways
• Endochondral ossification
• VEGF signaling pathway (anti-angiogenic modulation)
Protein Summary
Chondromodulin is a 334-amino acid secreted protein with a BRICHOS domain. It is synthesized as a precursor and cleaved to release the mature growth factor. The protein promotes chondrocyte proliferation and inhibits endothelial cell growth, thereby regulating cartilage vascularization and bone formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNMD Knockout HEK293 Cell Line | EDJ-KQ6635 | Human | 11061 | Details Get a Quote |
| CNMD Knockout HeLa Cell Line | EDJ-KQ55558 | Human | 11061 | Details Get a Quote |
| CNMD Knockout A-549 Cell Line | EDJ-KQ64053 | Human | 11061 | Details Get a Quote |
| CNMD Knockout HCT 116 Cell Line | EDJ-KQ72502 | Human | 11061 | Details Get a Quote |
