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TNNT2 troponin T2, cardiac type

Gene ID: 7139, updated on 17-May-2023
Gene type: protein coding
Also known as: CMH2; RCM3; TnTC; cTnT; CMD1D; CMPD2; LVNC6


This gene encodes the cardiac isoform of troponin T. The encoded protein 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. [provided by RefSeq, May 2022]

Associated conditions

See all available tests in GTR for this gene

Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
GeneReviews: Not available
Cardiomyopathy, familial restrictive, 3
MedGen: C2676271OMIM: 612422GeneReviews: Not available
See labs
Dilated cardiomyopathy 1DSee labs
Hypertrophic cardiomyopathy 2See labs
Primary dilated cardiomyopathySee labs

Copy number response

Copy number response

No evidence available (Last evaluated 2015-11-15)

ClinGen Genome Curation Page

No evidence available (Last evaluated 2015-11-15)

ClinGen Genome Curation Page

Genomic context

Chromosome: 1; NC_000001.11 (201359014..201377680, complement)
Total number of exons:


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