MMP13 (Matrix Metallopeptidase 13)
Collagenase 3: Key regulator of extracellular matrix remodeling in osteoarthritis and cancer
Gene Information Card
| Symbol | MMP13 |
|---|---|
| Full Name | Matrix Metallopeptidase 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q22.2 |
| NCBI Gene ID | 4322 ncbi.nlm.nih.gov/gene/4322 |
| Ensembl ID | ENSG00000137745 |
| UniProt ID | P45452 |
| OMIM ID | 600108 |
| HGNC ID | 7159 |
| Aliases | CLG3, collagenase 3, MMP-13 |
Description
MMP13 (matrix metallopeptidase 13) encodes a member of the matrix metalloproteinase (MMP) family, specifically collagenase 3. This enzyme degrades type II collagen and other extracellular matrix components. MMP13 is essential for bone development and remodeling, and its dysregulation is implicated in osteoarthritis, rheumatoid arthritis, and tumor invasion/metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Overexpression of MMP13 leads to excessive degradation of type II collagen in articular cartilage, contributing to joint destruction. | PMID: 16431284, OMIM #600108 |
| Rheumatoid Arthritis | Elevated MMP13 levels in synovial fluid and cartilage promote joint erosion and inflammation. | PMID: 15714594 |
| Breast Cancer | MMP13 expression correlates with invasive potential and poor prognosis; promotes extracellular matrix degradation and metastasis. | PMID: 18413744 |
| Colorectal Cancer | MMP13 overexpression is associated with tumor progression and lymph node metastasis. | PMID: 19030189 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 0.0 | Not detected |
| Cartilage | 0.0 | Not detected |
| Adipose tissue | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Breast | 0.0 | Not detected |
| Colon | 0.0 | Not detected |
| Ovary | 0.0 | Not detected |
| Prostate | 0.0 | Not detected |
| Thyroid | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Osteosarcoma cell line (MG-63) | 0.0 | Induced by IL-1β or TNF-α |
| Chondrosarcoma cell line (SW1353) | 0.0 | Induced by IL-1β |
| Breast cancer cell line (MDA-MB-231) | 0.0 | High expression in invasive cells |
| Colorectal cancer cell line (HT-29) | 0.0 | Low basal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.572G>A (p.Arg191Gln) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.826C>T (p.Arg276Trp) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.1018G>A (p.Gly340Ser) | Missense | <0.01% | Unknown; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for MMP13.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported; overexpression is primarily transcriptional.
Dominant Negative (DN)
No dominant-negative mutations described for MMP13.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity (GO:0004222) | • extracellular matrix (GO:0005578) |
| • proteolysis (GO:0006508) | • collagen catabolic process (GO:0030574) |
| • extracellular structure organization (GO:0043062) |
Pathways
• Matrix Metalloproteinases (MMPs) pathway
• Degradation of extracellular matrix
• IL-17 signaling pathway
• TNF signaling pathway
Protein Summary
MMP13 (collagenase 3) is a 471-amino acid zinc-dependent endopeptidase that preferentially cleaves type II collagen. It is synthesized as a zymogen and activated by proteolytic removal of the propeptide. The protein contains a catalytic domain with a zinc-binding motif and a hemopexin-like domain. MMP13 is expressed primarily in bone and cartilage during development and remodeling, and its expression is induced by inflammatory cytokines such as IL-1β and TNF-α. Dysregulated MMP13 activity contributes to osteoarthritis and cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MMP13 Knockout HEK293 Cell Line | EDJ-KQ3517 | Human | 4322 | Details Get a Quote |
| MMP13 Knockout HeLa Cell Line | EDJ-KQ53888 | Human | 4322 | Details Get a Quote |
| MMP13 Knockout A-549 Cell Line | EDJ-KQ62380 | Human | 4322 | Details Get a Quote |
| MMP13 Knockout HCT 116 Cell Line | EDJ-KQ70849 | Human | 4322 | Details Get a Quote |
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