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Aliases for TCAP Gene

Aliases for TCAP Gene

  • Titin-Cap 2 3 5
  • Limb Girdle Muscular Dystrophy 2G (Autosomal Recessive) 2 3
  • Teneurin C-Terminal Associated Peptide 2 3
  • 19 KDa Sarcomeric Protein 2 3
  • Titin Cap Protein 3 4
  • Titin-Cap (Telethonin) 2
  • Telethonin 3
  • LGMD2G 3
  • CMD1N 3
  • CMH25 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, Hypertrophic, 25. Among its related pathways are Striated Muscle Contraction and Cardiac conduction. 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

Regulatory Elements for TCAP Gene

Enhancers for TCAP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F040061 2 VISTA FANTOM5 Ensembl ENCODE 8.7 +405.1 405109 14.8 HDGF PKNOX1 ARNT MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 MED24 GSDMA MSL1 SNORD124 RAPGEFL1 PSMD3 TMEM99 MED1 TCAP ORMDL3
GH17F039630 1.1 Ensembl ENCODE 12.6 -31.2 -31205 4.0 PKNOX1 ARNT ZFP64 RAD21 ETS1 YY1 ZNF121 GLIS2 SCRT2 ZNF143 PGAP3 STARD3 TCAP PNMT NEUROD2 RNU6-233P ERBB2 PPP1R1B
GH17F039766 1.7 FANTOM5 Ensembl ENCODE 4.5 +110.7 110701 17.2 HDGF PKNOX1 WRNIP1 SIN3A FEZF1 ZNF2 CBX5 FOS SP3 JUNB CDK12 GSDMB ENSG00000266469 MED1 ORMDL3 SNORA21 GSDMA ERBB2 MIEN1 GRB7
GH17F038867 1.6 FANTOM5 ENCODE 4.1 -792.5 -792484 9.2 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 CDK12 ENSG00000266469 MED1 ENSG00000275665 SNORA21 ENSG00000275532 CWC25 LINC02079 PSMB3 ENSG00000252699
GH17F038876 1.3 Ensembl ENCODE 4.1 -782.0 -782039 11.1 PKNOX1 ZFP64 SIN3A ARID4B FEZF1 GLI4 ETS1 ZNF121 GLIS2 SP5 RPL23 RPS20P35 SNORA21 ENSG00000252699 C17orf98 CWC25 PSMB3 LASP1 PCGF2 PPP1R1B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TCAP on UCSC Golden Path with GeneCards custom track

Genomic Location for TCAP Gene

Chromosome:
17
Start:
39,664,187 bp from pter
End:
39,666,555 bp from pter
Size:
2,369 bases
Orientation:
Plus strand

Genomic View for TCAP Gene

Genes around TCAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    O15273-TELT_HUMAN
    Recommended name:
    Telethonin
    Protein Accession:
    O15273
    Secondary Accessions:
    • Q96L27

    Protein attributes for TCAP Gene

    Size:
    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.
    Miscellaneous:
    • 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

Post-translational modifications for TCAP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TCAP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TCAP Gene

Domains & Families 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:
titin-cap,telethonin
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,TAS 9817758
GO:0030674 protein binding, bridging IDA 15582318
GO:0031432 titin binding IPI 9817758
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

Human Phenotype Ontology for TCAP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TCAP Gene

MGI Knock Outs for TCAP:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TCAP gene
Compartment Confidence
cytosol 5
extracellular 3
cytoskeleton 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TCAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0030017 sarcomere IEA --
GO:0030018 Z disc IEA,IDA 9817758
GO:0031674 I band IEA,ISS --
genes like me logo Genes that share ontologies with TCAP: view

Pathways & Interactions 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 IEA,IMP 9817758
genes like me logo Genes that share ontologies with TCAP: view

No data available for SIGNOR curated interactions for TCAP Gene

Transcripts for TCAP Gene

mRNA/cDNA for TCAP Gene

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

Unigene Clusters for TCAP Gene

Titin-cap:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:
SP2:

Relevant External Links for TCAP Gene

GeneLoc Exon Structure for
TCAP
ECgene alternative splicing isoforms for
TCAP

Expression for TCAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TCAP Gene

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

This gene is overexpressed in Muscle - Skeletal (x21.4), Heart - Left Ventricle (x19.4), and Heart - Atrial Appendage (x10.3).

Protein differential expression in normal tissues from HIPED for TCAP Gene

This gene is overexpressed in Heart (58.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TCAP Gene



Protein tissue co-expression partners for TCAP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TCAP Gene:

TCAP

SOURCE GeneReport for Unigene cluster for TCAP Gene:

Hs.77628

mRNA Expression by UniProt/SwissProt for TCAP Gene:

O15273-TELT_HUMAN
Tissue specificity: Heart and skeletal muscle.
genes like me logo Genes that share expression patterns with TCAP: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia TCAP 34 35
  • 98.83 (n)
cow
(Bos Taurus)
Mammalia TCAP 34 35
  • 91.16 (n)
dog
(Canis familiaris)
Mammalia TCAP 34 35
  • 90.02 (n)
mouse
(Mus musculus)
Mammalia Tcap 34 16 35
  • 85.43 (n)
oppossum
(Monodelphis domestica)
Mammalia TCAP 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tcap 34
  • 60.33 (n)
zebrafish
(Danio rerio)
Actinopterygii tcap 34 35
  • 50.41 (n)
Species where no ortholog for TCAP was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for TCAP (if available)
TreeFam:
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
rs149585781 Cardiomyopathy, familial hypertrophic 25 (CMH25) [MIM:607487], Pathogenic 39,666,063(+) ACTTC(A/G)TCGCT upstream-variant-2KB, reference, missense
rs773317399 Cardiomyopathy, familial hypertrophic 25 (CMH25) [MIM:607487], Pathogenic 39,666,015(+) GATCA(A/C/T)AAAGC upstream-variant-2KB, reference, missense
rs775636212 Cardiomyopathy, familial hypertrophic 25 (CMH25) [MIM:607487], Pathogenic 39,665,813(+) TGATG(C/T)GGATG reference, missense
rs104894655 Pathogenic 39,665,762(+) ACCAC(C/T)AGCAG reference, stop-gained
rs786205076 Pathogenic 39,665,468(+) AGGAG(-/GG)GTGAG reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
nsv574992 CNV loss 21841781
nsv574991 CNV loss 21841781
nsv528093 CNV loss 19592680
nsv516757 CNV loss 19592680
nsv457738 CNV loss 19166990
nsv1146669 OTHER inversion 26484159
dgv40n68 CNV loss 17160897

Variation tolerance for TCAP Gene

Residual Variation Intolerance Score: 59.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.86; 34.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TCAP Gene

Human Gene Mutation Database (HGMD)
TCAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCAP

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

Disorders for TCAP Gene

MalaCards: The human disease database

(23) MalaCards diseases for TCAP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, limb-girdle, type 2g
  • autosomal recessive limb-girdle muscular dystrophy type 2g
cardiomyopathy, hypertrophic, 25
  • hypertrophic cardiomyopathy 25
tcap-related dilated cardiomyopathy
  • cmd1n
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
tcap-related familial hypertrophic cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards
Search TCAP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TELT_HUMAN
  • Cardiomyopathy, familial hypertrophic 25 (CMH25) [MIM:607487]: 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, ECO:0000269 PubMed:16352453}. 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.

Relevant External Links for TCAP

Genetic Association Database (GAD)
TCAP
Human Genome Epidemiology (HuGE) Navigator
TCAP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TCAP
genes like me logo Genes that share disorders with TCAP: view

No data available for Genatlas for TCAP Gene

Publications for TCAP Gene

  1. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. (PMID: 15582318) Hayashi T. … Kimura A. (J. Am. Coll. Cardiol. 2004) 3 4 22 46 64
  2. Telethonin, a novel sarcomeric protein of heart and skeletal muscle. (PMID: 9350988) Valle G. … Lanfranchi G. (FEBS Lett. 1997) 2 3 4 22 64
  3. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. (PMID: 19412328) Hershberger R.E. … Litt M. (Clin Transl Sci 2008) 3 22 46 64
  4. Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. (PMID: 16352453) Bos J.M. … Ackerman M.J. (Mol. Genet. Metab. 2006) 3 4 22 64
  5. Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk. (PMID: 16407954) Zou P. … Wilmanns M. (Nature 2006) 3 4 22 64

Products for TCAP Gene

Sources for TCAP Gene

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