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Aliases for TCAP Gene

Aliases for TCAP Gene

  • Titin-Cap 2 3
  • Limb Girdle Muscular Dystrophy 2G (Autosomal Recessive) 2 3
  • 19 KDa Sarcomeric Protein 2 3
  • Titin Cap Protein 3 4
  • LGMD2G 3 6
  • CMD1N 3 6
  • Titin-Cap (Telethonin) 2
  • Telethonin 3
  • T-Cap 3
  • TELE 3

External Ids for TCAP Gene

Previous HGNC Symbols for TCAP Gene

  • LGMD2G

Previous GeneCards Identifiers for TCAP Gene

  • GC17P037321
  • GC17P039818
  • GC17P037730
  • GC17P038195
  • GC17P035073
  • GC17P037818
  • GC17P033615

Summaries for TCAP Gene

Entrez Gene Summary for TCAP Gene

  • Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]

GeneCards Summary for TCAP Gene

TCAP (Titin-Cap) is a Protein Coding gene. Diseases associated with TCAP include muscular dystrophy, limb-girdle, type 2g and cardiomyopathy, dilated, 1n. Among its related pathways are Striated Muscle Contraction and Striated Muscle Contraction. GO annotations related to this gene include ion channel binding and structural constituent of muscle.

UniProtKB/Swiss-Prot for TCAP Gene

  • Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk

Gene Wiki entry for TCAP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCAP Gene

Genomics for TCAP Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TCAP Gene

39,664,187 bp from pter
39,666,555 bp from pter
2,369 bases
Plus strand

Genomic View for TCAP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TCAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCAP Gene

Proteins for TCAP Gene

  • Protein details for TCAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q96L27

    Protein attributes for TCAP Gene

    167 amino acids
    Molecular mass:
    19052 Da
    Quaternary structure:
    • Interacts with MYOZ1, MYOZ2 and MYOZ3. Interacts with CSRP3. Interacts directly with the N-terminal Ig-like domains of 2 titin (TTN) molecules. Interacts with ANKRD2; the interaction is direct.
    • The C-terminal domain appears to be unstructured in solution. It may promote the assembly of higher-order TTN complexes

    Three dimensional structures from OCA and Proteopedia for TCAP Gene

neXtProt entry for TCAP Gene

Proteomics data for TCAP Gene at MOPED

Post-translational modifications for TCAP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TCAP Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TCAP Gene

Domains for TCAP Gene

Protein Domains for TCAP Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TCAP: view

No data available for Gene Families and UniProtKB/Swiss-Prot for TCAP Gene

Function for TCAP Gene

Molecular function for TCAP Gene

GENATLAS Biochemistry:
UniProtKB/Swiss-Prot Function:
Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk

Gene Ontology (GO) - Molecular Function for TCAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10984498
GO:0008307 structural constituent of muscle IMP 9817758
GO:0030674 protein binding, bridging IDA 15582318
GO:0031432 titin binding IPI 11846417
GO:0036122 BMP binding IPI 17921333
genes like me logo Genes that share ontologies with TCAP: view
genes like me logo Genes that share phenotypes with TCAP: view

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TCAP

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TCAP Gene

Localization for TCAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCAP Gene

Cytoplasm, myofibril, sarcomere.

Subcellular locations from

Jensen Localization Image for TCAP Gene COMPARTMENTS Subcellular localization image for TCAP gene
Compartment Confidence
cytosol 4
extracellular 2
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for TCAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0030018 Z disc IDA 17921333
GO:0031674 I band ISS --
genes like me logo Genes that share ontologies with TCAP: view

Pathways for TCAP Gene

genes like me logo Genes that share pathways with TCAP: view

Pathways by source for TCAP Gene

1 BioSystems pathway for TCAP Gene
2 Reactome pathways for TCAP Gene

Gene Ontology (GO) - Biological Process for TCAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001756 somitogenesis IEA --
GO:0003009 skeletal muscle contraction IEP 9817758
GO:0003300 cardiac muscle hypertrophy IMP 15582318
GO:0006461 protein complex assembly TAS 9817758
GO:0007512 adult heart development IMP 9817758
genes like me logo Genes that share ontologies with TCAP: view

Transcripts for TCAP Gene

mRNA/cDNA for TCAP Gene

(581) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TCAP Gene

Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TCAP

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TCAP Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b

Relevant External Links for TCAP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TCAP Gene

mRNA expression in normal human tissues for TCAP Gene

mRNA differential expression in normal tissues according to GTEx for TCAP Gene

This gene is overexpressed in Muscle - Skeletal (21.4), Heart - Left Ventricle (19.4), and Heart - Atrial Appendage (10.3).

Protein differential expression in normal tissues for TCAP Gene

This gene is overexpressed in Heart (58.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TCAP Gene

SOURCE GeneReport for Unigene cluster for TCAP Gene Hs.77628

mRNA Expression by UniProt/SwissProt for TCAP Gene

Tissue specificity: Heart and skeletal muscle
genes like me logo Genes that share expressions with TCAP: view

Expression partners for TCAP Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TCAP Gene

Orthologs for TCAP Gene

This gene was present in the common ancestor of chordates.

Orthologs for TCAP Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TCAP 35
  • 91.16 (n)
  • 95.18 (a)
  • 95 (a)
(Canis familiaris)
Mammalia TCAP 35
  • 90.02 (n)
  • 90.42 (a)
  • 90 (a)
(Mus musculus)
Mammalia Tcap 35
  • 85.43 (n)
  • 90.42 (a)
Tcap 16
Tcap 36
  • 90 (a)
(Pan troglodytes)
Mammalia TCAP 35
  • 98.83 (n)
  • 97.9 (a)
  • 98 (a)
(Monodelphis domestica)
Mammalia TCAP 36
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tcap 35
  • 60.33 (n)
  • 53.37 (a)
(Danio rerio)
Actinopterygii tcap 35
  • 50.41 (n)
  • 40.85 (a)
tcap 36
  • 37 (a)
Species with no ortholog for TCAP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TCAP Gene

Gene Tree for TCAP (if available)
Gene Tree for TCAP (if available)

Paralogs for TCAP Gene

No data available for Paralogs for TCAP Gene

Variants for TCAP Gene

Sequence variations from dbSNP and Humsavar for TCAP Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs931992 -- 39,665,182(-) GCCCC(A/C)CGGTC upstream-variant-2KB
rs2934963 -- 39,664,739(+) ACTTA(C/T)CTGAC upstream-variant-2KB
rs2941510 -- 39,665,517(-) AGTGA(A/G)GGTGC intron-variant
rs17554665 -- 39,664,852(+) GGGGA(C/T)TAGGC upstream-variant-2KB
rs17851031 - 39,665,826(+) CATCC(A/T)CGGCC missense, reference

Structural Variations from Database of Genomic Variants (DGV) for TCAP Gene

Variant ID Type Subtype PubMed ID
dgv40n68 CNV Loss 17160897
dgv3162n71 CNV Loss 21882294
nsv908207 CNV Loss 21882294
nsv457738 CNV Loss 19166990
nsv516757 CNV Loss 19592680
nsv908213 CNV Loss 21882294
nsv528093 CNV Loss 19592680
nsv908214 CNV Loss 21882294
nsv908215 CNV Loss 21882294

Relevant External Links for TCAP Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCAP Gene

Disorders for TCAP Gene

(2) OMIM Diseases for TCAP Gene (604488)


  • Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:15582318}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Limb-girdle muscular dystrophy 2G (LGMD2G) [MIM:601954]: An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients. {ECO:0000269 PubMed:10655062}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1N (CMD1N) [MIM:607487]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:12507422, ECO:0000269 PubMed:15582318, ECO:0000269 PubMed:16352453}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TCAP Gene

(17) Novoseek inferred disease relationships for TCAP Gene

Disease -log(P) Hits PubMed IDs
lgmd2g 98.5 15
lgmd2h 93.8 4
lgmd2f 90.4 4
lgmd2b 90.2 7
lgmd2e 89.8 3

Relevant External Links for TCAP

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with TCAP: view

No data available for Genatlas for TCAP Gene

Publications for TCAP Gene

  1. Telethonin, a novel sarcomeric protein of heart and skeletal muscle. (PMID: 9350988) Valle G. … Lanfranchi G. (FEBS Lett. 1997) 2 3 4 23
  2. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. (PMID: 15582318) Hayashi T. … Kimura A. (J. Am. Coll. Cardiol. 2004) 3 4 23 48
  3. Deletion of Glu at codon 13 in the TCAP gene encoding the Z-disc protein titin-cap/telethonin is a rare non-synonymous polymorphism. (PMID: 16490376) Perrot A. … Osterziel K.J. (Mol. Genet. Metab. 2006) 3 4 23
  4. Evidence for a dimeric assembly of two titin/telethonin complexes induced by the telethonin C-terminus. (PMID: 16713295) Pinotsis N. … Wilmanns M. (J. Struct. Biol. 2006) 3 4 23
  5. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. (PMID: 11842093) Frey N. … Olson E.N. (J. Biol. Chem. 2002) 3 4 23

Products for TCAP Gene

Sources for TCAP Gene

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