MMP2

Chr 16

matrix 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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMulticentric osteolysis, nodulosis, and arthropathy

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
7
Active trials
1023
Pubs (1 yr)
P/LP submissions
P/LP missense
0.36
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.36LOEUF
pLI 0.839
Z-score 4.30
OE 0.19 (0.100.36)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.71Z-score
OE missense 0.90 (0.820.98)
351 obs / 390.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.19 (0.100.36)
00.351.4
Missense OE?0.90 (0.820.98)
00.61.4
Synonymous OE?1.13
01.21.6
LoF obs/exp: 6 / 32.4Missense obs/exp: 351 / 390.5Syn Z: -1.27

ClinVar Variant Classifications

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

Epilepsy

Precision Medicine in the Treatment of Epilepsy

RECRUITING
NCT05450822Gitte Moos KnudsenStarted 2022-02-18
LevetiracetamLevetiracetam TabletsLamotrigine tablet
Pelvic Organ ProlapseFemale Urogenital Diseases

Pelvic Organs Prolapse Treatment Using Neodymium Laser

ACTIVE NOT RECRUITING
NCT05000957Phase NAMeLSyTech, LtdStarted 2021-10-03
Laser TreatmentBlood analysisСlinical urine test
Acute Lymphatic LeukemiaLymphoma

More Than Just X-Rays - Imaging of Chemotherapy-induced Morphological and Functional Cardiovascular and Lung Changes After Childhood ALL and Other Cancers - a Monocentric Late Effects Study (MaximALL)

RECRUITING
NCT07705178Phase NAUniversity of Erlangen-Nürnberg Medical SchoolStarted 2026-07-14
QOL assessment, NeuropsychologicalSpirometryDLCO measurement
COL4A1\2COL4A1-Related Brain Small Vessel Disease With Haemorrhage

COL4A1COL4A2: Study of Pathological Conditions Involving Multiple Organs Caused by Mutations in the COL4A1 and COL4A2 Genes

RECRUITING
NCT07374913Phase NAMeyer Children's Hospital IRCCSStarted 2021-05-01
Ophtalmological and cardiological screening
Recurrent GlioblastomaRecurrent Malignant GliomaRecurrent WHO Grade II Glioma

Chimeric Antigen Receptor (CAR) T Cells With a Chlorotoxin Tumor-Targeting Domain for the Treatment of MMP2+ Recurrent or Progressive Glioblastoma

ACTIVE NOT RECRUITING
NCT04214392Phase PHASE1City of Hope Medical CenterStarted 2020-02-26
Chlorotoxin (EQ)-CD28-CD3zeta-CD19t-expressing CAR T-lymphocytes (via ICT delivery)Chlorotoxin (EQ)-CD28-CD3zeta-CD19t-expressing CAR T-lymphocytes (via ICT/ICV dual delivery)
Chronic Apical PeriodontitisPeriapical Healing

MMP-2/3 and Periapical Healing Outcomes

NOT YET RECRUITING
NCT07529964TC Erciyes UniversityStarted 2026-05-15
Nonsurgical Root Canal Treatment
Knee Osteoarthritis

Dietary Supplementation With Blueberry in OA

ACTIVE NOT RECRUITING
NCT05784545Phase NAUniversity of ExeterStarted 2023-05-22
Blueberry powder supplementMaltodextrin supplementation