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GenoLensGenoLens

TRDN

Chr 6q22.31

triadin

Aliases:
TRISK
MANE:
ENST00000334268.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Catecholaminergic polymorphic VT

    BIALLELIC, autosomal or pseudoautosomal
  • Congenital myopathy

    BIALLELIC, autosomal or pseudoautosomal
  • Long QT syndrome

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • catecholaminergic polymorphic ventricular tachycardia

    0.73
  • catecholaminergic polymorphic ventricular tachycardia 1

    0.57
  • Abnormality of the cardiovascular system

    0.54
  • Prolonged QT interval

    0.48
  • Abnormality of the skeletal system

    0.38
  • familial long QT syndrome

    0.38
  • Romano-Ward syndrome

    0.37
  • amyotrophic lateral sclerosis

    0.31
  • hypotensive disorder

    0.29
  • nervous system disorder

    0.29

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

Protein function (UniProt)

Triadin

Contributes to the regulation of lumenal Ca2+ release via the sarcoplasmic reticulum calcium release channels RYR1 and RYR2, a key step in triggering skeletal and heart muscle contraction. Required for normal organization of the triad junction, where T-tubules and the sarcoplasmic reticulum terminal cisternae are in close contact (By similarity). Required for normal skeletal muscle strength. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats

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.