TNNI3 Chromosome 19

Troponin I3, cardiac type
128 variants 128 Health Risk

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What This Gene Does
Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). Troponin I is useful in making a diagnosis of heart failure, and of ischemic heart disease. An elevated level of troponin is also now used as indicator of acute myocardial injury in patients hospitalized with moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation has also been associated with higher risk of mortality in cardiovascular disease patients hospitalized due to COVID-19. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
Troponin complex subunits
Locus Type
gene with protein product
Location
19q13.42
Ensembl
ENSG00000129991
Associated Conditions (22)
Dilated cardiomyopathy 2A
Cardiomyopathy
familial restrictive
1
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Primary familial hypertrophic cardiomyopathy
Familial restrictive cardiomyopathy
TNNI3-related disorder
Hypertrophic cardiomyopathy 1
Left ventricular noncompaction cardiomyopathy
Familial cancer of breast
Restrictive cardiomyopathy
Primary familial dilated cardiomyopathy
Myocarditis
Primary dilated cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
+2 more conditions
Key Variants
RS1057520417
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive
Health Risk
RS1057521530
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1085308019
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1162696593
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1171407156
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1178267975
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1210217999
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS121917761
Conflicting classifications of pathogenicity
Cardiomyopathy, familial restrictive, 1
Health Risk
RS12973773
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Cardiomyopathy
Health Risk
RS1317507392
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1351385449
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1357844466
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 2A, Dilated cardiomyopathy 1FF
Health Risk
All Variants (128)
RSID Category Clinical Significance Conditions
RS104894730 Health Risk Pathogenic Cardiomyopathy, familial restrictive, 1
RS1245885836 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1251941984 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1286340820 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2085710902 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2147283135 Health Risk Pathogenic Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy 7
RS2147285302 Health Risk Pathogenic Cardiomyopathy, familial restrictive, 1
RS2515503651 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS267607127 Health Risk Pathogenic Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy 7
RS267607128 Health Risk Pathogenic Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS267607129 Health Risk Pathogenic Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 1FF
RS267607130 Health Risk Pathogenic Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 1FF
RS727503503 Health Risk Pathogenic Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Cardiovascular phenotype
RS730880231 Health Risk Pathogenic Restrictive cardiomyopathy, Restrictive cardiomyopathy
RS730881077 Health Risk Pathogenic —
RS730881078 Health Risk Pathogenic TNNI3-related disorder, TNNI3-related disorder
RS730881082 Health Risk Pathogenic —
RS876661394 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS104894727 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 7, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS397516347 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS397516349 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS397516353 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 7, Cardiomyopathy
RS397516355 Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Cardiomyopathy, Dilated cardiomyopathy 1FF
RS397516357 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS727504242 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy, Cardiomyopathy
RS727504243 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS727504285 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS730881091 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy, Cardiovascular phenotype
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