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Gene : TNNT2 Homo sapiens

Name  ? troponin T2, cardiac type Cytological Location  1q32.1
Brief Description  troponin T2, cardiac type
description  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]
  • synonyms:
  • CMH2,
  • CMD1D,
  • HGNC:11949,
  • uc057ohe.1,
  • TnTC,
  • CMD1D,
  • CMPD2,
  • TNNT2,
  • NM_000364,
  • CMPD2,
  • X74819,
  • cTnT,
  • CMH2,
  • OTTHUMG00000035733,
  • RCM3,
  • LVNC6,
  • cardiomyopathy, dilated 1D (autosomal dominant),
  • cardiomyopathy, hypertrophic 2,
  • troponin T type 2 (cardiac)
  • identifiers:
  • 7139,
  • ENSG00000118194,
  • TNNT2

Genome feature

Region: gene ? Length: 18821  
Location: 1:201359008-201377828 reverse strand Cyto location: 1q32.1


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Proteins

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SNPs

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Disease

3 Diseases

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Expression

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Other

16 SN Ps

5 Cross References

20 Data Sets

14 Homologues

0 Located Features

90 Rna Seq Results