MMP2
Chr 16ARmatrix metallopeptidase 2
Also known as: CLG4, CLG4A, MMP-2, MMP-II, MONA, TBE-1
This gene is a member of the matrix metalloproteinase (MMP) gene family, that are zinc-dependent enzymes capable of cleaving components of the extracellular matrix and molecules involved in signal transduction. The protein encoded by this gene is a gelatinase A, type IV collagenase, that contains three fibronectin type II repeats in its catalytic site that allow binding of denatured type IV and V collagen and elastin. Unlike most MMP family members, activation of this protein can occur on the cell membrane. This enzyme can be activated extracellularly by proteases, or, intracellulary by its S-glutathiolation with no requirement for proteolytical removal of the pro-domain. This protein is thought to be involved in multiple pathways including roles in the nervous system, endometrial menstrual breakdown, regulation of vascularization, and metastasis. Mutations in this gene have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
280 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 | 3 | 1 | 16 | 0 | 20 |
Likely Pathogenic | 1 | 1 | 5 | 0 | 7 |
VUS | 2 | 92 | 18 | 1 | 113 |
Likely Benign | 0 | 0 | 36 | 52 | 88 |
Benign | 0 | 2 | 41 | 1 | 44 |
Conflicting | — | 8 | |||
| Total | 6 | 96 | 116 | 54 | 280 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MMP2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
Gene2Phenotype Curations
MMP2-related Winchester syndrome
definitiveGene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
MITAORTA - Role of Mitochondrial Dynamic in Aneurysm and Dissection of Ascending Thoracic Aorta
ACTIVE NOT RECRUITINGDietary Supplementation With Blueberry in OA
ACTIVE NOT RECRUITINGPrecision Medicine in the Treatment of Epilepsy
RECRUITINGChimeric Antigen Receptor (CAR) T Cells With a Chlorotoxin Tumor-Targeting Domain for the Treatment of MMP2+ Recurrent or Progressive Glioblastoma
ACTIVE NOT RECRUITINGPelvic Organs Prolapse Treatment Using Neodymium Laser
ACTIVE NOT RECRUITINGThe Impact of Genetic Polymorphism on the Echocardiographic Parameters and Cardiac Fibrosis Markers in Response to Empagliflozin Treatment Among Patients With Heart Failure
ACTIVE NOT RECRUITINGCOL4A1COL4A2: Study of Pathological Conditions Involving Multiple Organs Caused by Mutations in the COL4A1 and COL4A2 Genes
RECRUITINGExternal Resources
Links to major genomics databases and tools