Entity Details

Primary name TNNT2
Entity type gene
Source Source Link

Details

PrimaryID7139
RefseqGeneNG_007556
SymbolTNNT2
Nametroponin T2, cardiac type
Chromosome1
Location1q32.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1994-07-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTNNT2_HUMAN

GO terms

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GOName
GO:0003779 actin binding
GO:0005523 tropomyosin binding
GO:0005829 cytosol
GO:0005861 troponin complex
GO:0005865 striated muscle thin filament
GO:0006936 muscle contraction
GO:0006937 regulation of muscle contraction
GO:0008016 regulation of heart contraction
GO:0030017 sarcomere
GO:0030049 muscle filament sliding
GO:0030172 troponin C binding
GO:0031013 troponin I binding
GO:0032780 negative regulation of ATPase activity
GO:0032781 positive regulation of ATPase activity
GO:0042802 identical protein binding
GO:0045214 sarcomere organization
GO:0051592 response to calcium ion
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060048 cardiac muscle contraction
GO:0097512 cardiac myofibril
GO:1990584 cardiac Troponin complex

Diseases

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Disease IDSourceNameDescription
115195 OMIMCardiomyopathy, familial hypertrophic 2 (CMH2)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.
601494 OMIMCardiomyopathy, dilated 1D (CMD1D)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.
612422 OMIMCardiomyopathy, familial restrictive 3 (RCM3)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.