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THSD4

Chr 15q23

thrombospondin type 1 domain containing 4

Aliases:
FVSY9334, PRO34005, FLJ13710, ADAMTSL6
MANE:
ENST00000261862.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Thoracic aortic aneurysm or dissection (GMS)

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • aortic aneurysm, familial thoracic 12

    0.58
  • familial thoracic aortic aneurysm and aortic dissection

    0.48
  • chronic obstructive pulmonary disease

    0.46
  • Abnormality of the skeletal system

    0.46
  • Microscopic hematuria

    0.38
  • Hematuria

    0.37
  • lower respiratory tract disorder

    0.37
  • open-angle glaucoma

    0.34
  • glaucoma

    0.33
  • Rare disease with thoracic aortic aneurysm and aortic dissection

    0.32

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

Protein function (UniProt)

Thrombospondin type-1 domain-containing protein 4

Promotes FBN1 matrix assembly. Attenuates TGFB signaling, possibly by accelerating the sequestration of large latent complexes of TGFB or active TGFB by FBN1 microfibril assembly, thereby negatively regulating the expression of TGFB regulatory targets, such as POSTN

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.