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TPM4

Chr 19p13.12-p13.11

tropomyosin 4

MANE:
ENST00000643579.2

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Inherited bleeding disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • bleeding disorder, platelet-type, 25

    0.56
  • cancer

    0.48
  • thrombocytopenia 4

    0.46
  • hemorrhagic disease

    0.40
  • autosomal dominant macrothrombocytopenia

    0.39
  • inflammatory myofibroblastic tumor

    0.37
  • lung inflammatory myofibroblastic tumor

    0.37
  • hepatocellular carcinoma

    0.21
  • esophageal squamous cell carcinoma

    0.20
  • lung carcinoma

    0.20

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

Protein function (UniProt)

Tropomyosin alpha-4 chain

Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments (By similarity). Binds calcium (PubMed:1836432). Plays a role in platelet biogenesis

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.