TNNT2
The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [provided by RefSeq]
Full Name
troponin T type 2 (cardiac)
Function
Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
Biological Process
Biological Process actin crosslink formation Source:Ensembl
Biological Process cardiac muscle contraction Source:CAFA1 Publication
Biological Process muscle contraction Source:GO_Central1 Publication
Biological Process muscle filament sliding Source:UniProtKB2 Publications
Biological Process negative regulation of ATP-dependent activity Source:UniProtKB1 Publication
Biological Process positive regulation of ATP-dependent activity Source:UniProtKB2 Publications
Biological Process regulation of heart contraction Source:UniProtKB1 Publication
Biological Process regulation of muscle filament sliding speed Source:Ensembl
Biological Process response to calcium ion Source:UniProtKB1 Publication
Biological Process sarcomere organization Source:GO_Central1 Publication
Biological Process ventricular cardiac muscle tissue morphogenesis Source:BHF-UCL1 Publication
Cellular Location
cardiac myofibril
cardiac Troponin complex
cytosol
sarcomere
striated muscle thin filament
troponin complex
Involvement in disease
Cardiomyopathy, 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.
Cardiomyopathy, 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.
Cardiomyopathy, 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.
PTM
Phosphorylation at Thr-213 by PRKCA induces significant reduction in myofilament calcium sensitivity and actomyosin ATPase activity.
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Datasheet