Entity Details

Primary name TNNI3
Entity type gene
Source Source Link

Details

PrimaryID7137
RefseqGeneNG_007866
SymbolTNNI3
Nametroponin I3, cardiac type
Chromosome19
Location19q13.42
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-07-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTNNI3_HUMAN

GO terms

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GOName
GO:0001570 vasculogenesis
GO:0001980 regulation of systemic arterial blood pressure by ischemic conditions
GO:0003009 skeletal muscle contraction
GO:0003779 actin binding
GO:0005829 cytosol
GO:0005861 troponin complex
GO:0006874 cellular calcium ion homeostasis
GO:0006936 muscle contraction
GO:0007507 heart development
GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling
GO:0019855 calcium channel inhibitor activity
GO:0019901 protein kinase binding
GO:0019904 protein domain specific binding
GO:0030017 sarcomere
GO:0030049 muscle filament sliding
GO:0030172 troponin C binding
GO:0031014 troponin T binding
GO:0032780 negative regulation of ATPase activity
GO:0046872 metal ion binding
GO:0048306 calcium-dependent protein binding
GO:0051015 actin filament binding
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060047 heart contraction
GO:0060048 cardiac muscle contraction
GO:0097512 cardiac myofibril
GO:1990584 cardiac Troponin complex

Diseases

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Disease IDSourceNameDescription
115210 OMIMCardiomyopathy, familial restrictive 1 (RCM1)A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. The disease is caused by variants affecting the gene represented in this entry.
613286 OMIMCardiomyopathy, dilated 1FF (CMD1FF)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.
613690 OMIMCardiomyopathy, familial hypertrophic 7 (CMH7)A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by variants affecting the gene represented in this entry.
611880 OMIMCardiomyopathy, dilated 2A (CMD2A)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.