QuickView for TNNT2 (gene)

Gene Symbol:

TNNT2 Homo sapiens

Full name:

troponin T2, cardiac type

Synonyms:

CMD1D, CMH2, CMPD2, LVNC6, RCM3, TnTC, cTnT, troponin T, cardiac muscle, cardiomyopathy, dilated 1D (autosomal dominant), cardiomyopathy, hypertrophic 2, troponin T type 2 (cardiac), truncated cardiac troponin T

Genomic Location:

Chr 1: 199594765-199613428

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 a...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Canis lupus familiaris ,  Pan troglodytes ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

MYOD_01 ,  YTATTTTNR_MEF2_02 ,  HEB_Q6 ,  AML1_01 ,  GGGAGGRR_MAZ_Q6 ,  MEF2_02 ,  TEF1_Q6 ,  AP4_Q6 ,  CTTTAAR_UNKNOWN ,  GCM_Q2 ,  AML1_Q6 ,  WGGAATGY_TEF1_Q6 ,  AP4_Q6_01 ,  SREBP_Q3 ,  CAGCTG_AP4_Q5 ,  LBP1_Q6 ,  MEF2_Q6_01

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Cytogenetic Map:

1q32.1

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