InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TNNT2

Summary

InnateDB Protein

IDBP-105739.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TNNT2

Protein Name

troponin T type 2 (cardiac)

Synonyms

CMD1D; CMH2; CMPD2; cTnT; LVNC6; RCM3; TnTC;

Species

Homo sapiens

Ensembl Protein

ENSP00000356287

InnateDB Gene

IDBG-105731 (TNNT2)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Disease Associations

Cardiomyopathy, 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:0000269PubMed:10525521, ECO:0000269PubMed:11034944, ECO:0000269PubMed:12707239, ECO:0000269PubMed:12974739, ECO:0000269PubMed:15563892, ECO:0000269PubMed:16199542, ECO:0000269PubMed:21846512, ECO:0000269PubMed:7898523, ECO:0000269PubMed:8205619, ECO:0000269PubMed:8989109, ECO:0000269PubMed:9060892, ECO:0000269PubMed:9140840, ECO:0000269PubMed:9482583, ECO:0000269Ref.19}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, 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:0000269PubMed:11106718, ECO:0000269PubMed:11684629, ECO:0000269PubMed:15542288, ECO:0000269PubMed:15769782, ECO:0000269PubMed:21846512}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, 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:0000269PubMed:16651346}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Heart. 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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005523	tropomyosin binding
GO:0016887	ATPase activity
GO:0030172	troponin C binding
GO:0031013	troponin I binding

Biological Process

GO:0006200	ATP catabolic process
GO:0006937	regulation of muscle contraction
GO:0008016	regulation of heart contraction
GO:0030049	muscle filament sliding
GO:0032780	negative regulation of ATPase activity
GO:0032781	positive regulation of ATPase activity
GO:0051592	response to calcium ion
GO:0055010	ventricular cardiac muscle tissue morphogenesis