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MGP003167

UniProt Annotations

Entry Information
Gene Nametroponin T type 2 (cardiac)
Protein EntryTNNT2_HUMAN
UniProt IDP45379
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=12; Comment=Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=TNT1; IsoId=P45379-1; Sequence=Displayed; Name=2; IsoId=P45379-2; Sequence=VSP_006644; Name=3; IsoId=P45379-3; Sequence=VSP_006645; Name=4; IsoId=P45379-4; Sequence=VSP_006644, VSP_006645; Name=5; IsoId=P45379-5; Sequence=VSP_006647; Name=6; Synonyms=TNT3; IsoId=P45379-6; Sequence=VSP_006643; Name=7; Synonyms=TNT4; IsoId=P45379-7; Sequence=VSP_006642; Name=8; Synonyms=TNT2; IsoId=P45379-8; Sequence=VSP_006641; Name=9; IsoId=P45379-9; Sequence=VSP_006646; Name=10; IsoId=P45379-10; Sequence=VSP_006648; Name=11; IsoId=P45379-11; Sequence=VSP_006643, VSP_006648; Note=No experimental confirmation available.; Name=12; IsoId=P45379-12; Sequence=VSP_006645, VSP_006646, VSP_006648;
DiseaseCardiomyopathy, dilated 1D (CMD1D) [MIM:601494]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:11106718, ECO:0000269|PubMed:11684629, ECO:0000269|PubMed:15542288, ECO:0000269|PubMed:15769782, ECO:0000269|PubMed:21846512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]: 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. {ECO:0000269|PubMed:10525521, ECO:0000269|PubMed:11034944, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:15563892, ECO:0000269|PubMed:16199542, ECO:0000269|PubMed:21846512, ECO:0000269|PubMed:7898523, ECO:0000269|PubMed:8205619, ECO:0000269|PubMed:8989109, ECO:0000269|PubMed:9060892, ECO:0000269|PubMed:9140840, ECO:0000269|PubMed:9482583, ECO:0000269|Ref.19}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCardiomyopathy, familial restrictive 3 (RCM3) [MIM:612422]: 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. {ECO:0000269|PubMed:16651346}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionTroponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
PtmPhosphorylation at Thr-213 by PRKCA induces significant reduction in myofilament calcium sensitivity and actomyosin ATPase activity. {ECO:0000250}.
SimilarityBelongs to the troponin T family. {ECO:0000305}.
Tissue SpecificityHeart. The fetal heart shows a greater expression in the atrium than in the ventricle, while the adult heart shows a greater expression in the ventricle than in the atrium. Isoform 6 predominates in normal adult heart. Isoforms 1, 7 and 8 are expressed in fetal heart. Isoform 7 is also expressed in failing adult heart.
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