MMP3 Gene (Matrix Metallopeptidase 3): Function, Disease Associations, and Expression
Comprehensive biomedical overview of MMP3 (stromelysin-1), including genomic context, protein function, disease links, tissue expression, and mutation data.
Gene Information Card
| Symbol | MMP3 |
|---|---|
| Full Name | Matrix metallopeptidase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q22.2 |
| NCBI Gene ID | 4314 ncbi.nlm.nih.gov/gene/4314 |
| Ensembl ID | ENSG00000149968 |
| UniProt ID | P08254 |
| OMIM ID | 185250 |
| HGNC ID | 7173 |
| Aliases | STMY1, STR1, MMP-3, SL-1, MGC126102, MGC126103, MGC126104 |
Description
The MMP3 gene encodes matrix metallopeptidase 3, also known as stromelysin-1, a zinc-dependent endopeptidase that degrades extracellular matrix components including fibronectin, laminin, collagens (III, IV, V, IX), and cartilage proteoglycans. MMP3 is involved in tissue remodeling, wound healing, and inflammation, and its dysregulation is linked to arthritis, cardiovascular disease, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coronary artery disease | MMP3 polymorphisms (e.g., 5A/6A) affect promoter activity, influencing matrix degradation in atherosclerotic plaques. | ClinVar, OMIM |
| Rheumatoid arthritis | Elevated MMP3 expression in synovium contributes to cartilage and bone destruction. | OMIM, PubMed |
| Osteoarthritis | MMP3 degrades cartilage proteoglycans and collagens, accelerating joint degeneration. | OMIM, PubMed |
| Cancer (various types) | MMP3 overexpression promotes tumor invasion and metastasis via ECM degradation and activation of growth factors. | COSMIC, PubMed |
| Abdominal aortic aneurysm | MMP3 activity weakens aortic wall integrity, leading to aneurysm formation. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.4 | Medium |
| Adipose tissue | 10.2 | Medium |
| Lung | 8.5 | Low |
| Breast | 7.8 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression |
| A549 | 12.1 | Medium |
| MCF7 | 9.8 | Medium |
| HepG2 | 6.4 | Low |
| K562 | 2.1 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs35068180 (5A/6A) | Promoter polymorphism | ~50% in Caucasians | 5A allele has higher promoter activity, associated with increased MMP3 expression and disease risk. |
| rs679620 (Glu45Lys) | Missense | ~30% | May alter enzyme activity or substrate specificity; linked to cardiovascular disease. |
| rs522616 (3' UTR) | Regulatory | ~20% | Potential effect on mRNA stability or translation. |
Mutation functional classification
Loss of Function (LOF)
Rare loss-of-function mutations in MMP3 are not well documented; complete loss may impair tissue remodeling but is not commonly observed in human disease.
Gain of Function (GOF)
The 5A promoter allele is considered a gain-of-function variant due to increased transcription, leading to excessive ECM degradation in pathological conditions.
Dominant Negative (DN)
No dominant-negative mutations have been reported for MMP3.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity | • zinc ion binding |
| • extracellular matrix disassembly | • proteolysis |
| • collagen catabolic process | • response to cytokine |
Pathways
• Matrix metalloproteinase pathway
• Degradation of extracellular matrix
• IL-17 signaling pathway
• TNF signaling pathway
Protein Summary
MMP3 is synthesized as a preproenzyme and secreted as a proenzyme (pro-MMP3) that requires proteolytic cleavage for activation. The active enzyme degrades various ECM components and also activates other MMPs (e.g., MMP1, MMP9). MMP3 is inhibited by tissue inhibitors of metalloproteinases (TIMPs). Its expression is regulated by cytokines, growth factors, and hormones. Structural domains include a pro-peptide, catalytic domain with zinc-binding motif, and hemopexin-like C-terminal domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MMP3 Knockout HEK293 Cell Line | EDJ-KQ1483 | Human | 4314 | Details Get a Quote |
| MMP3 Knockout HeLa Cell Line | EDJ-KQ53882 | Human | 4314 | Details Get a Quote |
| MMP3 Knockout A-549 Cell Line | EDJ-KQ62374 | Human | 4314 | Details Get a Quote |
| MMP3 Knockout HCT 116 Cell Line | EDJ-KQ70844 | Human | 4314 | Details Get a Quote |
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