Property Summary

NCBI Gene PubMed Count 53
Grant Count 250
R01 Count 81
Funding $61,367,009.32
PubMed Score 1924.41
PubTator Score 82.01

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma 1.400 0.000
glioblastoma -1.600 0.000
atypical teratoid / rhabdoid tumor -1.500 0.000
medulloblastoma -1.100 0.000
medulloblastoma, large-cell -1.400 0.000
primitive neuroectodermal tumor -1.100 0.002
acute quadriplegic myopathy -1.275 0.000
adult high grade glioma -1.600 0.000
pilocytic astrocytoma -1.200 0.000
lung adenocarcinoma -1.400 0.000
dermatomyositis -1.500 0.003

Synonym

Accession O15273 Q96L27
Symbols TELE
CMD1N
CMH25
T-cap
LGMD2G
telethonin

Gene

PANTHER Protein Class (1)

PDB

1YA5   2F8V  

 GO Component (3)

Gene RIF (24)

PMID Text
25055047 Data indicate LGMD2G protein TCAP association with limb girdle muscular dystrophy 2G (LGMD2G).
24280220 cardiac telethonin is constitutively bis-phosphorylated and suggest that such phosphorylation is critical for normal telethonin function, which may include maintenance of transverse tubule organization and intracellular Ca(2+) transients.
24037902 Report TCAP mutations in dilated cardiomyopathy.
21683594 This study identified no pathogenic mutations in BAG3, MATR3, PTRF or TCAP in Australian muscular dystrophy.
20602615 Observational study of gene-disease association. (HuGE Navigator)
20474083 Observational study of genetic testing. (HuGE Navigator)
20373002 reduced expression of dystrophin and titin is associated with the pathophysiology of dilated cardiomyopathy, and TNF-alpha may modulate the expression of these proteins via NF-kappaB pathway.
20201937 Observational study of gene-disease association. (HuGE Navigator)
19875404 Observational study of gene-disease association. (HuGE Navigator)
19679566 Genetic studies of tcap in zebrafish suggested that pathogenesis in LGMD2G is due to a disruption of sarcomere-T-tubular interaction, but not of sarcomere assembly per se.
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AA Sequence

MATSELSCEVSEENCERREAFWAEWKDLTLSTRPEEGCSLHEEDTQRHETYHQQGQCQVLVQRSPWLMMR      1 - 70
MGILGRGLQEYQLPYQRVLPLPIFTPAKMGATKEEREDTPIQLQELLALETALGGQCVDRQEVAEITKQL     71 - 140
PPVVPVSKPGALRRSLSRSMSQEAQRG                                               141 - 167
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Text Mined References (50)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25055047 2014 Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.
24860983 2014 Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation.
24280220 2014 Phosphoregulation of the titin-cap protein telethonin in cardiac myocytes.
24037902 2013 The genetics of dilated cardiomyopathy: a prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLN.
23414517 2013 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
21683594 2011 A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.
20602615 2010 Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
20474083 2010 A novel custom resequencing array for dilated cardiomyopathy.
20373002 2010 Decreased myocardial expression of dystrophin and titin mRNA and protein in dilated cardiomyopathy: possibly an adverse effect of TNF-alpha.
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