Property Summary

NCBI Gene PubMed Count 53
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 4.6e-06
glioblastoma -1.600 7.4e-07
atypical teratoid / rhabdoid tumor -1.500 7.1e-09
medulloblastoma -1.100 1.6e-05
medulloblastoma, large-cell -1.400 4.1e-05
primitive neuroectodermal tumor -1.100 2.0e-03
acute quadriplegic myopathy -1.275 1.7e-06
adult high grade glioma -1.600 2.3e-05
pilocytic astrocytoma -1.200 1.3e-05
lung adenocarcinoma -1.400 1.7e-08
dermatomyositis -1.500 3.5e-03

Synonym

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

Gene

PANTHER Protein Class (1)

PDB

1YA5   2F8V  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 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.
19412328 Observational study of gene-disease association. (HuGE Navigator)
18849585 Telethonin might be involved in CVB3-mediated cell damage and in the resulting cardiac dysfunction due to the interaction with Siva.
18513529 Observational study of gene-disease association. (HuGE Navigator)
18408010 telethonin is a sodium channel-interacting protein, and its mutations can alter Na(v)1.5 kinetics and may play a role in intestinal pseudo-obstruction
17921333 Hypertension induced expression of prohypertrophic BMP10, and the hypertrophic effect of BMP10 was modulated, at least in part, by its binding to Tcap at the Z disc.
17117180 Observational study of gene-disease association. (HuGE Navigator)
16713295 A dimer of two titin/telethonin complexes is formed within the crystal environment, potentially indicating the formation of higher oligomers.
16531234 The titin Z1Z2-telethonin complex resist considerable mechanical force through beta strand crosslinking, suggesting that telethonin is an important component of the N-terminal titin anchor.
15582318 Observational study of gene-disease association. (HuGE Navigator)
15582318 TCAP mutations identified which are associated with hypertrophic cardiomyopathy.
15010812 Oncogenomic recombination hotspot around the PPP1R1B-STARD3-TCAP-PNMT-PERLD1-ERBB2-C17orf37-GRB7 amplicon at human chromosome 17q12 is closely linked to evolutionary recombination hotspot around the GSDML-GSDM locus.
12446666 telethonin may play a role in linking titin filaments at the Z-disk periphery
11763198 telethonin protein levels seems to be at least in part regulated by neuronal activity and is thus linked to the dynamic control of myofibrillogenesis and muscle turnover in human skeletal muscle.
11699871 review of telethonin and other new proteins of the Z-disc of skeletal muscle

AA Sequence

MATSELSCEVSEENCERREAFWAEWKDLTLSTRPEEGCSLHEEDTQRHETYHQQGQCQVLVQRSPWLMMR      1 - 70
MGILGRGLQEYQLPYQRVLPLPIFTPAKMGATKEEREDTPIQLQELLALETALGGQCVDRQEVAEITKQL     71 - 140
PPVVPVSKPGALRRSLSRSMSQEAQRG                                               141 - 167
//

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.
20201937 2010 Common susceptibility variants examined for association with dilated cardiomyopathy.
19875404 2009 The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.
19679566 2009 Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly.
19412328 2008 Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.
18849585 2009 Proapoptotic protein Siva binds to the muscle protein telethonin in cardiomyocytes during coxsackieviral infection.
18513529 2008 Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy.
18408010 2008 A mutation in telethonin alters Nav1.5 function.
17921333 2007 Interaction of BMP10 with Tcap may modulate the course of hypertensive cardiac hypertrophy.
17117180 2006 HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.
16962094 2006 Molecular interactions with obscurin are involved in the localization of muscle-specific small ankyrin1 isoforms to subcompartments of the sarcoplasmic reticulum.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16713295 2006 Evidence for a dimeric assembly of two titin/telethonin complexes induced by the telethonin C-terminus.
16678796 2006 MDM2 interacts with and downregulates a sarcomeric protein, TCAP.
16650785 2006 Deletion of Glu at codon 13 of the TCAP gene encoding the titin-cap-telethonin is a rare polymorphism in a large Italian population.
16531234 2006 Mechanical strength of the titin Z1Z2-telethonin complex.
16490376 2006 Deletion of Glu at codon 13 in the TCAP gene encoding the Z-disc protein titin-cap/telethonin is a rare non-synonymous polymorphism.
16407954 2006 Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk.
16352453 2006 Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15967462 2005 MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination.
15582318 2004 Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15136035 2004 The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle.
15010812 2004 Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12507422 2002 The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12446666 2003 Solution scattering suggests cross-linking function of telethonin in the complex with titin.
12209887 2002 Titin-cap associates with, and regulates secretion of, Myostatin.
11846417 2002 Titin mutations as the molecular basis for dilated cardiomyopathy.
11842093 2002 Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins.
11699871 2001 Telethonin and other new proteins of the Z-disc of skeletal muscle.
11697903 2001 Specific interaction of the potassium channel beta-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system.
10984498 2000 FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle.
10655062 2000 Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.
9817758 1998 The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity.
9804419 1998 Structural basis for activation of the titin kinase domain during myofibrillogenesis.
9645487 1998 Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin.
9350988 1997 Telethonin, a novel sarcomeric protein of heart and skeletal muscle.
9245996 1997 The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.