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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, 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 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

Additional gene information for TCAP Gene

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

Genomics for TCAP Gene

GeneHancer (GH) Regulatory Elements for TCAP Gene

Promoters and enhancers for TCAP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I039658 Promoter/Enhancer 2.9 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 -0.5 -497 10.4 HDGF MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF766 PNMT TCAP PGAP3 STARD3 CDK12 LOC105371762 STAC2 FBXL20 MSL1
GH17I040061 Promoter/Enhancer 2.9 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.7 +405.1 405108 14.8 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 THRA GC17P040067 MED1 MED24 SMARCE1 MSL1 GSDMA CDK12 RAPGEFL1 PSMD3
GH17I039631 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.6 -31.2 -31192 4 PKNOX1 RAD21 ETS1 ZNF121 GLIS2 SCRT2 ZNF143 ZNF654 REST ZNF398 PGAP3 STARD3 TCAP PNMT NEUROD2 RNU6-233P ERBB2 PPP1R1B
GH17I038867 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.1 -792.5 -792484 9.2 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 ZNF548 SP3 LASP1 MED1 CDK12 SNORA21 LOC105371762 RPL23 CWC25 PSMB3 SNORA21B C17orf98
GH17I039766 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.5 +110.7 110700 17.2 HDGF PKNOX1 CLOCK FOXA2 SMAD1 FEZF1 ZNF2 IRF4 ZNF213 FOS IKZF3 GC17P039774 GSDMB MED1 SNORD124 ORMDL3 GSDMA MED24 CDK12 ERBB2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TCAP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TCAP gene promoter:

Genomic Locations for TCAP Gene

Genomic Locations for TCAP Gene
chr17:39,664,187-39,666,555
(GRCh38/hg38)
Size:
2,369 bases
Orientation:
Plus strand
chr17:37,820,440-37,822,808
(GRCh37/hg19)

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

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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.

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 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:

Clone 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 IDA,IEA 9817758
GO:0031674 I band ISS,IEA --
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

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,IEA 9817758
genes like me logo Genes that share ontologies with TCAP: view

No data available for SIGNOR curated interactions for TCAP Gene

Drugs & Compounds for TCAP Gene

No Compound Related Data Available

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:

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for TCAP Gene

  • Muscle(5)
  • Heart(4)

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

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 33 34
  • 98.83 (n)
cow
(Bos Taurus)
Mammalia TCAP 33 34
  • 91.16 (n)
dog
(Canis familiaris)
Mammalia TCAP 33 34
  • 90.02 (n)
mouse
(Mus musculus)
Mammalia Tcap 33 16 34
  • 85.43 (n)
oppossum
(Monodelphis domestica)
Mammalia TCAP 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tcap 33
  • 60.33 (n)
zebrafish
(Danio rerio)
Actinopterygii tcap 33 34
  • 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 Variation AA Info Type
rs104894655 pathogenic, likely-pathogenic, Limb-girdle muscular dystrophy, type 2G, Dilated cardiomyopathy 1N, Primary dilated cardiomyopathy 39,665,762(+) C/T coding_sequence_variant, stop_gained
rs1053651 benign, likely-benign, not specified, Cardiovascular phenotype, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive 39,666,058(+) A/C/G coding_sequence_variant, synonymous_variant
rs1060502965 uncertain-significance, Dilated cardiomyopathy 1N, Primary familial hypertrophic cardiomyopathy 39,665,948(+) G/A coding_sequence_variant, missense_variant
rs1060504769 likely-benign, Dilated cardiomyopathy 1N, Primary familial hypertrophic cardiomyopathy 39,665,773(+) G/A coding_sequence_variant, synonymous_variant
rs1060504770 likely-benign, Dilated cardiomyopathy 1N, Primary familial hypertrophic cardiomyopathy 39,665,461(+) C/G/T coding_sequence_variant, synonymous_variant

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

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

Disorder Aliases PubMed IDs
muscular dystrophy, limb-girdle, type 2g
  • lgmd2g
cardiomyopathy, familial hypertrophic, 25
  • cmh25
isolated hyperckemia
  • elevated serum cpk
creatine phosphokinase, elevated serum
  • cpk, elevated serum
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated 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.

Additional Disease Information for TCAP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 44 58
  2. Telethonin, a novel sarcomeric protein of heart and skeletal muscle. (PMID: 9350988) Valle G … Lanfranchi G (FEBS letters 1997) 2 3 4 22 58
  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 22 44 58
  4. 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 22 58
  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 58

Products for TCAP Gene

Sources for TCAP Gene

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