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, Jul 2008]

  • Skeletal muscle contraction
  • Muscle contraction
  • Regulation of muscle contraction
  • Regulation of heart contraction
  • Muscle filament sliding

  • Cardiomyopathy, dilated, 1d
  • Cardiomyopathy, familial hypertrophic, 2
  • Cardiomyopathy, familial restrictive, 3
  • Familial isolated dilated cardiomyopathy
  • Dilated cardiomyopathy

  • Hypertrophic Cardiomyopathy
  • Dilated Cardiomyopathy
  • General Cardiomyopathy
  • Restrictive Cardiomyopathy
  • Non-compaction cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

TNNT2 (troponin T2, cardiac type) -BioGPS

Interacting Proteins for TNNT2 Gene – String

Emw. Structure of the TNNT2 protein. Based on PyMOL rendering of PDB 1j1d.

Gene Location

HM-VUS Prevalence

% 0.153217568947906

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

High/Med VUS Variants

A=0.000360(88/244204,GnomAD_exome)
A=0.000366(46/125568,TOPMED)
A=0.00062(59/94806,ALFAProject)
A=0.00043(40/93228,ExAC)
A=0.00041(32/78690,PAGE_STUDY)
A=0.00032(10/31366,GnomAD)
A=0.0004(2/4480,Estonian)
A=0.0008(3/3854,ALSPAC)
A=0.0005(2/3708,TWINSUK)

delG=0.000044(11/250100,GnomAD_exome)
delG=0.000072(9/125568,TOPMED)
delG=0.000035(4/115786,ExAC)
delG=0.00010(3/31372,GnomAD)
delG=0.00016(2/12520,GO-ESP)
delG=0.0005(1/2188,ALFAProject)

T=0.000005(1/220974,GnomAD_exome)
T=0.00002(1/55152,ExAC)