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ADAMTS3

Chr 4q13.3

ADAM metallopeptidase with thrombospondin type 1 motif 3

Aliases:
KIAA0366, ADAMTS-4
MANE:
ENST00000286657.10
OMIM: 605011 ↗NCBI: 9508 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Intestinal failure or congenital diarrhoea

    BIALLELIC, autosomal or pseudoautosomal

  • Primary lymphoedema

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Abnormality of the skeletal system

    0.73

  • Hennekam syndrome

    0.71

  • hereditary disease

    0.42

  • coronary artery disorder

    0.39

  • ovarian dysfunction

    0.36

  • smoking behavior

    0.33

  • stroke disorder

    0.32

  • alcohol drinking

    0.32

  • response to xenobiotic stimulus

    0.31

  • COVID-19

    0.31

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 3

Cleaves the propeptides of type II collagen prior to fibril assembly. Does not act on types I and III collagens

Diseases associated with ADAMTS3

Curated MONDO disease pages that list ADAMTS3 among their top associated genes.

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.