Property Summary

NCBI Gene PubMed Count 33
Grant Count 12
R01 Count 7
Funding $523,245
PubMed Score 32.08
PubTator Score 18.96

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
breast carcinoma -1.100 0.026
fibroadenoma -1.700 0.009
diabetes mellitus -1.100 0.016
psoriasis -2.300 0.000

 GWAS Trait (1)

Gene RIF (11)

PMID Text
26915936 The presence of the p.(Arg63His) missense mutation at position 63 of TNNT3 was confirmed through direct cycle sequencing of genomic DNA in six affected South African family members for whom DNA had been archived.
26774798 Three homologous genes have evolved in vertebrates to encode three muscle type-specific TnT isoforms: TNNT1 for slow skeletal muscle TnT, TNNT2 for cardiac muscle TnT, and TNNT3 for fast skeletal muscle TnT.
21402185 Data show that a missense mutation at nucleotide position 187 in exon 9 of the TNNT3 gene was identified in all affected individuals in the family.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20066428 TNNT3 and LDB3 showed abnormal splicing and appeared more pronounced in myotonic dystrophies type 2 relative to myotonic dystrophies type 1.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19326042 Myotonic dystrophy type 2 muscles exhibited a higher degree of alternative splicing dysregulation for fast TnT transcripts when compared to myotonic dystrophy type 1 muscles.
19142688 Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
19142688 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MSDEEVEQVEEQYEEEEEAQEEAAEVHEEVHEPEEVQEDTAEEDAEEEKPRPKLTAPKIPEGEKVDFDDI      1 - 70
QKKRQNKDLMELQALIDSHFEARKKEEEELVALKERIEKRRAERAEQQRIRAEKERERQNRLAEEKARRE     71 - 140
EEDAKRRAEDDLKKKKALSSMGANYSSYLAKADQKRGKKQTAREMKKKILAERRKPLNIDHLGEDKLRDK    141 - 210
AKELWETLHQLEIDKFEFGEKLKRQKYDITTLRSRIDQAQKHSKKAGTPAKGKVGGRWK               211 - 269
//

Text Mined References (35)

PMID Year Title
26915936 2016 Digitotalar dysmorphism: Molecular elucidation.
26774798 2016 TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.
25342443 2014 Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
23936387 2013 A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
21402185 A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20453838 2010 Genome-wide association study identifies five new breast cancer susceptibility loci.
20066428 2010 Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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