MMP19: Matrix Metallopeptidase 19
A comprehensive biomedical resource for MMP19 gene, including genomic annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | MMP19 |
|---|---|
| Full Name | Matrix Metallopeptidase 19 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 4327 ncbi.nlm.nih.gov/gene/4327 |
| Ensembl ID | ENSG00000123342 |
| UniProt ID | Q99542 |
| OMIM ID | 601807 |
| HGNC ID | 7162 |
| Aliases | MMP-19, RASI-1, CODA |
Description
MMP19 (Matrix Metallopeptidase 19) encodes a member of the matrix metalloproteinase (MMP) family, which are zinc-dependent endopeptidases involved in extracellular matrix degradation, tissue remodeling, and cell migration. MMP19 is expressed in various tissues and has been implicated in cancer progression, inflammation, and autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | MMP19 overexpression in synovial fibroblasts contributes to cartilage degradation and joint inflammation. | PMID: 11590156 |
| Breast Cancer | MMP19 promotes tumor invasion and metastasis through ECM remodeling. | PMID: 21947069 |
| Melanoma | MMP19 expression correlates with tumor progression and poor prognosis. | PMID: 15604238 |
| Osteoarthritis | MMP19 is upregulated in osteoarthritic cartilage, contributing to matrix breakdown. | PMID: 17088064 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Breast | 8.3 | Low |
| Skin | 15.7 | Medium |
| Colon | 6.2 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 14.2 | Moderate expression |
| MCF7 (breast cancer) | 9.8 | Low expression |
| SK-MEL-28 (melanoma) | 18.5 | High expression |
| HT-29 (colon cancer) | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown significance |
| c.1024C>T (p.Arg342Trp) | Missense | <0.01% | Unknown significance |
| c.1345_1346insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertions (e.g., c.1345_1346insA) likely result in truncated, non-functional protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MMP19.
Dominant Negative (DN)
No evidence for dominant-negative effects in MMP19.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity (GO:0004222) | • extracellular matrix (GO:0005578) |
| • proteolysis (GO:0006508) | • collagen catabolic process (GO:0030574) |
| • plasma membrane (GO:0005886) |
Pathways
• Matrix Metalloproteinases (MMPs) pathway
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Degradation of the extracellular matrix (Reactome: R-HSA-1474228)
Protein Summary
MMP19 is a 57 kDa secreted protein with a conserved catalytic domain containing a zinc-binding motif. It degrades components of the extracellular matrix, including collagen IV, fibronectin, and gelatin. MMP19 is involved in tissue remodeling, angiogenesis, and immune cell migration. Its expression is regulated by cytokines and growth factors, and dysregulation is linked to cancer and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MMP19 Knockout HEK293 Cell Line | EDJ-KQ5228 | Human | 4327 | Details Get a Quote |
| MMP19 Knockout HeLa Cell Line | EDJ-KQ53890 | Human | 4327 | Details Get a Quote |
| MMP19 Knockout A-549 Cell Line | EDJ-KQ62382 | Human | 4327 | Details Get a Quote |
| MMP19 Knockout HCT 116 Cell Line | EDJ-KQ70851 | Human | 4327 | Details Get a Quote |
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