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 tit... See more...

Aliases for TCAP Gene

Aliases for TCAP Gene

  • Titin-Cap 2 3 5
  • Telethonin 2 3 4
  • 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
  • CMD1N 2 3
  • T-Cap 2 3
  • TELE 2 3
  • Titin-Cap (Telethonin) 2
  • LGMD2G 3
  • LGMDR7 3
  • CMH25 3
  • TCAP 5

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, Autosomal Recessive 7 and Cardiomyopathy, Familial Hypertrophic, 25. Among its related pathways are Cardiac conduction and Striated Muscle Contraction. Gene Ontology (GO) annotations related to this gene include ion channel binding and structural constituent of muscle.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TCAP Gene

Genomics for TCAP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TCAP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TCAP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TCAP

Top Transcription factor binding sites by QIAGEN in the TCAP gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA

Genomic Locations for TCAP Gene

Genomic Locations for TCAP Gene
chr17:39,665,349-39,666,554
(GRCh38/hg38)
Size:
1,206 bases
Orientation:
Plus strand
chr17:37,820,440-37,822,808
(GRCh37/hg19)
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

Gene Families for TCAP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TCAP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TCAP Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ39009 fis, clone NT2RI2025565, highly similar to TELETHONIN (A2TDC0_HUMAN)
  • Mutant titin-cap (A8I423_HUMAN)
  • Truncated telethonin (A9QT26_HUMAN)
  • Titin cap protein (TELT_HUMAN)
genes like me logo Genes that share domains with TCAP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TCAP Gene

Function for TCAP Gene

Molecular function for TCAP Gene

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

Phenotypes From GWAS Catalog for TCAP Gene

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 IBA,IDA 15582318
GO:0031432 titin binding IBA,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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCAP

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
plasma membrane 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
lysosome 1
golgi apparatus 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 IDA 9817758
GO:0031674 I band ISS --
genes like me logo Genes that share ontologies with TCAP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TCAP Gene

Pathways & Interactions for TCAP Gene

PathCards logo

SuperPathways 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

SIGNOR curated interactions for TCAP Gene

Other effect:

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:0007512 adult heart development IMP 9817758
GO:0014898 cardiac muscle hypertrophy in response to stress IMP 12507422
genes like me logo Genes that share ontologies with TCAP: view

Drugs & Compounds for TCAP Gene

No Compound Related Data Available

Transcripts for TCAP Gene

mRNA/cDNA for TCAP Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCAP

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

Expression for TCAP Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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 and MOPED for TCAP Gene



Protein tissue co-expression partners for TCAP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for TCAP Gene

  • Muscle(5)
  • Heart(4.1)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TCAP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • femur
  • foot
  • hip
  • knee
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with TCAP: view

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 30 31
  • 98.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TCAP 30 31
  • 91.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TCAP 30 31
  • 90.02 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tcap 30 17 31
  • 85.43 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TCAP 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tcap 30
  • 60.33 (n)
Zebrafish
(Danio rerio)
Actinopterygii tcap 30 31
  • 50.41 (n)
OneToOne
Species where no ortholog for TCAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for TCAP: view image

Paralogs for TCAP Gene

No data available for Paralogs for TCAP Gene

Variants for TCAP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TCAP Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
639581 Uncertain Significance: Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1N 39,665,750(+) G/A MISSENSE_VARIANT
646556 Uncertain Significance: Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1N 39,665,891(+) C/T MISSENSE_VARIANT
646941 Uncertain Significance: Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1N 39,665,949(+) A/T MISSENSE_VARIANT
650939 Uncertain Significance: Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1N 39,665,381(+) T/A MISSENSE_VARIANT
652487 Uncertain Significance: Hypertrophic cardiomyopathy; Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1N 39,665,728(+) TGAG/T INFRAME_DELETION

Additional dbSNP identifiers (rs#s) for TCAP Gene

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

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

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)

Additional Variant Information for TCAP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TCAP Gene

MalaCards: The human disease database

(45) MalaCards diseases for TCAP Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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.
  • Muscular dystrophy, limb-girdle, autosomal recessive 7 (LGMDR7) [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.

Additional Disease Information for TCAP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (Journal of the American College of Cardiology 2004) 3 4 23 41
  2. Telethonin, a novel sarcomeric protein of heart and skeletal muscle. (PMID: 9350988) Valle G … Lanfranchi G (FEBS letters 1997) 2 3 4 23
  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 RE … Litt M (Clinical and translational science 2008) 3 23 41
  4. Evidence for a dimeric assembly of two titin/telethonin complexes induced by the telethonin C-terminus. (PMID: 16713295) Pinotsis N … Wilmanns M (Journal of structural biology 2006) 3 4 23
  5. Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. (PMID: 16352453) Bos JM … Ackerman MJ (Molecular genetics and metabolism 2006) 3 4 23

Products for TCAP Gene

Sources for TCAP Gene