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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MMP2
matrix metallopeptidase 2
Chromosome 16 Β· 16q12.2
NCBI Gene: 4313Ensembl: ENSG00000087245.13HGNC: HGNC:7166UniProt: P08253
1,979PubMed Papers
21Diseases
3Drugs
29Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneProtease
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular matrix disassemblycell migrationendopeptidase activitymetalloendopeptidase activityTorg-Winchester syndromeNodulosis-arthropathy-osteolysis syndromemulticentric osteolysis-nodulosis-arthropathy spectrumlung cancer
✦AI Summary

MMP2 (matrix metalloproteinase 2) is a zinc-dependent and calcium-containing secreted endoproteinase that mediates proteolysis of extracellular matrix components and regulates cell migration and invasion 1. The protein functions through calcium-dependent signaling pathways; CCL5-directed glioma invasion requires MMP2 upregulation via calcium/calmodulin-dependent protein kinase II (CaMKII) activation 2. Beyond structural remodeling, MMP2 influences tumorigenesisβ€”methylparaben exposure upregulates MMP2 to promote bladder cancer invasion 3, while SOX2 promotes bladder cancer invasion through nucleolin-mediated MMP2 mRNA stabilization 4. In non-malignant contexts, apolipoprotein A1 (APOA1) binds MMP2's catalytic and hemopexin-like domains, allosterically regulating its activity in circulation 5. Clinically, MMP2 gene polymorphisms associate with dilated cardiomyopathy susceptibility and prognosis; the rs243865-C allele increases MMP2 expression and correlates with poor outcomes 1. Environmental pollutants like methyl-4-hydroxybenzoate identify MMP2 as a hub target in glioblastoma development 6. Therapeutic targeting of MMP2β€”via farnesoid X receptor agonistsβ€”reduces bladder cancer migration and invasion 7, suggesting MMP2 inhibition as a potential cancer treatment strategy. MMP2's role in Multicentric osteolysis, nodulosis, and arthropathy indicates importance in bone and joint biology.

Sources cited
1
MMP2 is a zinc-dependent and calcium-containing secreted endoproteinase; rs243865-C allele increases MMP2 expression and associates with dilated cardiomyopathy susceptibility and poor prognosis
PMID: 36866790
2
CCL5 modulates glioma migration and invasion via calcium-dependent MMP2 upregulation through CaMKII phosphorylation
PMID: 31593589
3
Methylparaben upregulates MMP2 expression to promote bladder cancer invasion
PMID: 41223749
4
SOX2 promotes bladder cancer invasion through nucleolin-mediated MMP2 mRNA stability and expression
PMID: 36293387
5
Apolipoprotein A1 binds MMP2's catalytic and hemopexin-like domains and allosterically regulates MMP2 activity in circulation
PMID: 40263360
6
MMP2 is identified as a hub target in environmental pollutant-associated glioblastoma development
PMID: 39536568
7
FXR agonist GW4064 inhibits bladder cancer migration and invasion through MMP2 downregulation
PMID: 38216027
Disease Associationsβ“˜21
Torg-Winchester syndromeOpen Targets
0.79Strong
Nodulosis-arthropathy-osteolysis syndromeOpen Targets
0.67Moderate
multicentric osteolysis-nodulosis-arthropathy spectrumOpen Targets
0.63Moderate
lung cancerOpen Targets
0.38Weak
fibroblastic disorderOpen Targets
0.35Weak
lip and oral cavity carcinomaOpen Targets
0.34Weak
chromosome 16q12 duplication syndromeOpen Targets
0.33Weak
musculoskeletal system diseaseOpen Targets
0.33Weak
Abnormality of refractionOpen Targets
0.31Weak
hearing lossOpen Targets
0.31Weak
breast cancerOpen Targets
0.31Weak
HypernatremiaOpen Targets
0.30Weak
age-related hearing impairmentOpen Targets
0.30Weak
prostate cancerOpen Targets
0.29Weak
ThrombophlebitisOpen Targets
0.28Weak
non-small cell lung carcinomaOpen Targets
0.28Weak
PhlebitisOpen Targets
0.27Weak
aortic atherosclerosisOpen Targets
0.27Weak
Kaposi's sarcomaOpen Targets
0.26Weak
Malignant Pancreatic NeoplasmOpen Targets
0.26Weak
Multicentric osteolysis, nodulosis, and arthropathyUniProt
Pathogenic Variants29
NM_004530.6(MMP2):c.732C>A (p.Tyr244Ter)Pathogenic
Multicentric osteolysis nodulosis arthropathy spectrum|not provided|Multicentric osteolysis, nodulosis, and arthropathy
β˜…β˜…β˜†β˜†2024β†’ Residue 244
NM_004530.6(MMP2):c.1287del (p.Asn430fs)Pathogenic
not provided|Multicentric osteolysis nodulosis arthropathy spectrum|Multicentric osteolysis, nodulosis, and arthropathy
β˜…β˜…β˜†β˜†2023β†’ Residue 430
NM_004530.6(MMP2):c.1160G>A (p.Trp387Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 387
NM_004530.6(MMP2):c.799A>T (p.Lys267Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 267
NM_004530.6(MMP2):c.1081G>T (p.Glu361Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 361
NM_004530.6(MMP2):c.481C>T (p.Arg161Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 161
NM_004530.6(MMP2):c.301C>T (p.Arg101Cys)Pathogenic
Multicentric osteolysis nodulosis arthropathy spectrum|Multicentric osteolysis, nodulosis, and arthropathy
β˜…β˜†β˜†β˜†2024β†’ Residue 101
NM_004530.6(MMP2):c.1743_1744dup (p.Ile582fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 582
NM_004530.6(MMP2):c.1336+2T>GLikely pathogenic
MMP2-related disorder|Ovarian serous cystadenocarcinoma
β˜…β˜†β˜†β˜†2023
NM_004530.6(MMP2):c.1585G>T (p.Glu529Ter)Likely pathogenic
Multicentric osteolysis, nodulosis, and arthropathy
β˜…β˜†β˜†β˜†2023β†’ Residue 529
NM_004530.6(MMP2):c.1188C>A (p.Ser396Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 396
NM_004530.6(MMP2):c.691G>T (p.Glu231Ter)Pathogenic
Multicentric osteolysis nodulosis arthropathy spectrum
β˜…β˜†β˜†β˜†2022β†’ Residue 231
NM_004530.6(MMP2):c.1770-1_1774delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_004530.6(MMP2):c.865C>T (p.Gln289Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 289
NM_004530.6(MMP2):c.348del (p.Lys116fs)Pathogenic
Multicentric osteolysis, nodulosis, and arthropathy
β˜…β˜†β˜†β˜†2021β†’ Residue 116
NM_004530.6(MMP2):c.1456TTC[2] (p.Phe488del)Likely pathogenic
Multicentric osteolysis nodulosis arthropathy spectrum
β˜…β˜†β˜†β˜†2021β†’ Residue 488
NM_004530.6(MMP2):c.529G>A (p.Glu177Lys)Likely pathogenic
Multicentric osteolysis nodulosis arthropathy spectrum
β˜…β˜†β˜†β˜†2021β†’ Residue 177
NM_004530.6(MMP2):c.1648C>T (p.Arg550Ter)Pathogenic
Multicentric osteolysis nodulosis arthropathy spectrum
β˜…β˜†β˜†β˜†2020β†’ Residue 550
NM_004530.6(MMP2):c.1289del (p.Asn430fs)Pathogenic
Multicentric osteolysis, nodulosis, and arthropathy
β˜…β˜†β˜†β˜†2020β†’ Residue 430
NM_004530.6(MMP2):c.154-1492_320delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2019
View on ClinVar β†—
Drug Targets3
CTS-1027Phase II
Matrix metalloproteinase 12 inhibitor
hepatitis C virus infection
MARIMASTATPhase III
Matrix metalloproteinase 3 inhibitor
lung cancer
REBIMASTATPhase III
Matrix metalloproteinase 13 inhibitor
Kaposi's sarcoma
Related Genes
TGFB1Protein interaction100%TIMP2Protein interaction100%HPXProtein interaction100%LCN2Protein interaction100%MMP10Protein interaction100%TIMP1Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Lung
94%
Heart
48%
Liver
5%
Brain
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
MMP2TGFB1TIMP2HPXLCN2MMP10TIMP1
PROTEIN STRUCTURE
Preparing viewer…
PDB3AYU Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.65LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.50 [0.39–0.65]
RankingsWhere MMP2 stands among ~20K protein-coding genes
  • #57of 20,598
    Most Researched1,979 Β· top 1%
  • #1,826of 5,498
    Most Pathogenic Variants29
  • #4,756of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedMMP2
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Combining mendelian randomization analysis and network toxicology strategy to identify causality and underlying mechanisms of environmental pollutants with glioblastoma: A study of Methyl-4-hydroxybenzoate.
PMID: 39536568
Ecotoxicol Environ Saf Β· 2024
1.00
2
Prognostic values of tumoral MMP2 and MMP9 overexpression in breast cancer: a systematic review and meta-analysis.
PMID: 33568081
BMC Cancer Β· 2021
0.96
3
CCL5 of glioma-associated microglia/macrophages regulates glioma migration and invasion via calcium-dependent matrix metalloproteinase 2.
PMID: 31593589
Neuro Oncol Β· 2020
0.90
4
Targeting RGS4 Ablates Glioblastoma Proliferation.
PMID: 32392739
Int J Mol Sci Β· 2020
0.82
5
Association between MMP2 gene polymorphisms and dilated cardiomyopathy in a Chinese Han population.
PMID: 36866790
ESC Heart Fail Β· 2023
0.80