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ADAMTS2

Chr 5q35.3

ADAM metallopeptidase with thrombospondin type 1 motif 2

Aliases:
ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI
MANE:
ENST00000251582.12

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ehlers Danlos syndrome with a likely monogenic cause

    BIALLELIC, autosomal or pseudoautosomal
  • Pneumothorax - familial

  • Rare genetic inflammatory skin disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Thoracic aortic aneurysm or dissection

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Thoracic aortic aneurysm or dissection (GMS)

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Ehlers-Danlos syndrome, dermatosparaxis type

    0.75
  • ankylosing spondylitis

    0.32
  • Abnormal nasolacrimal system morphology

    0.31
  • placental abruption

    0.29
  • benign neoplasm

    0.28
  • drug allergy

    0.27
  • chondrocalcinosis

    0.27
  • methicillin-resistant staphylococcus aureus infectious disease

    0.27
  • Proptosis

    0.27
  • Abnormality of the skeletal system

    0.26

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

Protein function (UniProt)

A disintegrin and metalloproteinase with thrombospondin motifs 2

Cleaves the propeptides of type I and II collagen prior to fibril assembly (By similarity). Does not act on type III collagen (By similarity). Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX form with reduced collagen-binding activity (PubMed:31152061)

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.