Skip to content
GenoLensGenoLens

TPM1

Chr 15q22.2

tropomyosin 1

MANE:
ENST00000403994.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Dilated and arrhythmogenic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Dilated Cardiomyopathy and conduction defects

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Hypertrophic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Left Ventricular Noncompaction Cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Paediatric or syndromic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Hereditary neuropathy

  • Hereditary neuropathy or pain disorder

Disease associations (Open Targets)

  • hypertrophic cardiomyopathy

    0.81
  • left ventricular noncompaction

    0.76
  • left ventricular noncompaction 9

    0.66
  • familial isolated dilated cardiomyopathy

    0.64
  • Rare familial disorder with hypertrophic cardiomyopathy

    0.55
  • Abnormality of the cardiovascular system

    0.55
  • cardiomyopathy

    0.54
  • dilated cardiomyopathy

    0.54
  • familial hypertrophic cardiomyopathy

    0.49
  • familial cardiomyopathy

    0.37

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

Protein function (UniProt)

Tropomyosin alpha-1 chain

Binds to actin filaments in muscle and non-muscle cells (PubMed:23170982). Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction (PubMed:23170982). Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments

Curated MONDO disease pages that list TPM1 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.