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TNNI3

Chr 19q13.42

troponin I3, cardiac type

Aliases:
TNNC1, CMH7, cTNI
MANE:
ENST00000344887.10

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Dilated and arrhythmogenic cardiomyopathy

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Dilated Cardiomyopathy and conduction defects

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Hypertrophic cardiomyopathy

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Paediatric or syndromic cardiomyopathy

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Hereditary neuropathy

  • Hereditary neuropathy or pain disorder

  • Left Ventricular Noncompaction Cardiomyopathy

Disease associations (Open Targets)

  • hypertrophic cardiomyopathy

    0.83
  • cardiomyopathy, familial restrictive, 1

    0.78
  • dilated cardiomyopathy 1FF

    0.78
  • dilated cardiomyopathy 2A

    0.76
  • hypertrophic cardiomyopathy 7

    0.74
  • familial isolated dilated cardiomyopathy

    0.72
  • Rare familial disorder with hypertrophic cardiomyopathy

    0.69
  • familial isolated restrictive cardiomyopathy

    0.60
  • cardiomyopathy

    0.58
  • Abnormality of the cardiovascular system

    0.56

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

Protein function (UniProt)

Troponin I, cardiac muscle

Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity

Curated MONDO disease pages that list TNNI3 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.