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MMP9

Chr 20q13.12

matrix metallopeptidase 9

MANE:
ENST00000372330.3

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Familial Meniere Disease

  • Osteogenesis imperfecta

Disease associations (Open Targets)

  • metaphyseal anadysplasia

    0.66
  • dengue disease

    0.48
  • Crohn disease

    0.41
  • intervertebral disk degenerative disorder

    0.38
  • non-small cell lung carcinoma

    0.38
  • gastric adenocarcinoma

    0.37
  • ulcerative colitis

    0.32
  • breast cancer

    0.31
  • prostate cancer

    0.31
  • COVID-19

    0.30

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

Protein function (UniProt)

Matrix metalloproteinase-9

Matrix metalloproteinase that plays an essential role in local proteolysis of the extracellular matrix and in leukocyte migration (PubMed:12879005, PubMed:1480034, PubMed:2551898). Could play a role in bone osteoclastic resorption (By similarity). Cleaves KiSS1 at a Gly-|-Leu bond (PubMed:12879005). Cleaves NINJ1 to generate the Secreted ninjurin-1 form (PubMed:32883094). Cleaves type IV and type V collagen into large C-terminal three quarter fragments and shorter N-terminal one quarter fragments (PubMed:1480034). Degrades fibronectin but not laminin or Pz-peptide

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.