Entrez gene ID | | 7139 |
Official gene symbol | | TNNT2 |
Full name | | troponin T type 2 (cardiac) |
Aliases | | ,CMH2,CMPD2,MGC3889,RCM3,TnTC,cTnT, |
Gene 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] |
Location | | Chromosome: 1 Locus: 1q32 |
Gene position | | 201346805 - 201328142 Map Viewer |
Gene orientation | | minus |
Gene size | | 18664 bp |
Gene sequence |
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OMIM ID | | 191045 |
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