TNNT2
Chr 1ADtroponin T2, cardiac type
Also known as: CMD1D, CMH2, CMPD2, LVNC6, RCM3, TnTC, cTnT
The cardiac troponin T protein is the tropomyosin-binding subunit of the troponin complex that confers calcium-sensitivity to cardiac muscle contraction. Mutations cause autosomal dominant cardiomyopathies including hypertrophic, dilated, restrictive, and left ventricular noncompaction phenotypes. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.638), and comprehensive clinical management guidelines are available through GeneReviews.
No known disease relationship
3 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TNNT2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease
RECRUITINGConstruction and Evaluation of Tumor Immunotherapy and Organ Damage Early Warning System Based on Multi-omics
RECRUITINGDalargin for Prevention of Organ Disfunction in High-Risk Abdominal Surgery
ACTIVE NOT RECRUITINGMyocardial Telomere Recapping Study for Dilated Cardiomyopathy
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools