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TNNT2 troponin T2, cardiac type

Gene ID: 7139, updated on 17-Oct-2021
Gene type: protein coding
Also known as: CMH2; RCM3; TnTC; cTnT; CMD1D; CMPD2; LVNC6

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
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
Familial hypertrophic cardiomyopathy 2See labs
Familial restrictive cardiomyopathy 3
MedGen: C2676271OMIM: 612422GeneReviews: Not available
See labs
Left ventricular noncompaction 6See labs
Primary dilated cardiomyopathySee labs

Copy number response

Description
Copy number response
Haploinsufficency

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

ClinGen Genome Curation Page
Triplosensitivity

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

ClinGen Genome Curation Page

Genomic context

Location:
1q32.1
Sequence:
Chromosome: 1; NC_000001.11 (201359014..201377828, complement)
Total number of exons:
17

Links

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