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MMP2

Chr 16q12.2

matrix metallopeptidase 2

Aliases:
MMP-2, TBE-1
MANE:
ENST00000219070.9

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Osteogenesis imperfecta

Disease associations (Open Targets)

  • Torg-Winchester syndrome

    0.78
  • multicentric osteolysis-nodulosis-arthropathy spectrum

    0.70
  • Nodulosis-arthropathy-osteolysis syndrome

    0.65
  • non-small cell lung carcinoma

    0.37
  • lip and oral cavity carcinoma

    0.35
  • fibroblastic disorder

    0.34
  • chromosome 16q12 duplication syndrome

    0.34
  • breast cancer

    0.31
  • musculoskeletal system disorder

    0.31
  • prostate cancer

    0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

72 kDa type IV collagenase

Ubiquitinous metalloproteinase that is involved in diverse functions such as remodeling of the vasculature, angiogenesis, tissue repair, tumor invasion, inflammation, and atherosclerotic plaque rupture. As well as degrading extracellular matrix proteins, can also act on several nonmatrix proteins such as big endothelial 1 and beta-type CGRP promoting vasoconstriction. Also cleaves KISS at a Gly-|-Leu bond. Appears to have a role in myocardial cell death pathways. Contributes to myocardial oxidative stress by regulating the activity of GSK3beta. Cleaves GSK3beta in vitro. Involved in the formation of the fibrovascular tissues in association with MMP14

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.