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TPM3

Chr 1q21.3

tropomyosin 3

Aliases:
TRK
MANE:
ENST00000651641.1

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Arthrogryposis

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Congenital myopathy

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Paediatric pseudo-obstruction syndrome

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • congenital fiber-type disproportion myopathy

    0.82
  • congenital myopathy 4B, autosomal recessive

    0.72
  • nemaline myopathy

    0.59
  • TPM3-related myopathy

    0.49
  • cancer

    0.48
  • cap myopathy

    0.46
  • hereditary disease

    0.40
  • anaplastic large cell lymphoma

    0.38
  • non-small cell lung carcinoma

    0.38
  • inflammatory myofibroblastic tumor

    0.38

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

Protein function (UniProt)

Tropomyosin alpha-3 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

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.