MMP16
Chr 8matrix metallopeptidase 16
Also known as: C8orf57, MMP-X2, MT-MMP2, MT-MMP3, MT3-MMP
The protein is a membrane-bound endopeptidase that degrades extracellular matrix components including collagen type III and fibronectin, and activates progelatinase A for vascular matrix remodeling. This gene is highly constrained against loss-of-function variants, but no definitive disease associations have been established in the current datasets. The inheritance pattern for potential disease-causing variants would be autosomal.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
105 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 34 | 0 | 34 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 43 | 12 | 0 | 55 |
Likely Benign | 0 | 0 | 1 | 0 | 1 |
Benign | 0 | 0 | 1 | 2 | 3 |
| Total | 0 | 43 | 48 | 2 | 93 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MMP16 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools