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TPM2

Chr 9p13.3

tropomyosin 2

Aliases:
DA1, NEM4
MANE:
ENST00000645482.3

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Arthrogryposis

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Congenital myopathy

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • DDG2P

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

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • congenital myopathy 23

    0.81
  • digitotalar dysmorphism

    0.74
  • cap myopathy

    0.71
  • nemaline myopathy

    0.68
  • Sheldon-hall syndrome

    0.62
  • distal arthrogryposis type 2B1

    0.54
  • distal arthrogryposis

    0.46
  • arthrogryposis, distal, type 2B4

    0.45
  • hereditary disease

    0.45
  • TPM2-related myopathy

    0.44

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

Protein function (UniProt)

Tropomyosin beta 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. The non-muscle isoform may have a role in agonist-mediated receptor internalization

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.