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TCAP Gene

protein-coding   GIFtS: 61
GCID: GC17P037818

Titin-Cap

(Previous names: limb girdle muscular dystrophy 2G (autosomal recessive),...)
(Previous symbol: LGMD2G)
  See TCAP-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
titin-cap1 2     CMD1N2 5
LGMD2G1 2 5     Titin-Cap (Telethonin)1
Limb Girdle Muscular Dystrophy 2G (Autosomal Recessive)1 2     T-cap2
19 KDa Sarcomeric Protein1 2     TELE2
Titin Cap Protein2 3     telethonin2

External Ids:    HGNC: 116101   Entrez Gene: 85572   Ensembl: ENSG000001739917   OMIM: 6044885   UniProtKB: O152733   

Export aliases for TCAP gene to outside databases

Previous GC identifers: GC17P037321 GC17P039818 GC17P037730 GC17P038195 GC17P035073 GC17P033615


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 limb-girdle muscular dystrophy, type 2g, and tcap-related familial hypertrophic cardiomyopathy. GO annotations related to this gene include structural constituent of muscle and ion channel binding.

UniProtKB/Swiss-Prot: TELT_HUMAN, O15273
Function: Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the
sarcomeric Z-disk

Gene Wiki entry for TCAP (Telethonin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the TCAP gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 4   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTCAP promoter sequence
   Search Chromatin IP Primers for TCAP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TCAP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q12

TCAP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCAP gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P037818:  view genomic region     (about GC identifiers)

Start:
37,820,440 bp from pter      End:
37,822,808 bp from pter
Size:
2,369 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TELT_HUMAN, O15273 (See protein sequence)
Recommended Name: Telethonin  
Size: 167 amino acids; 19052 Da
Subunit: Interacts with MYOZ1 and MYOZ3. 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
2 PDB 3D structures from and Proteopedia for TCAP:
1YA5 (3D)        2F8V (3D)    
Secondary accessions: Q96L27

Explore the universe of human proteins at neXtProt for TCAP: NX_O15273

Explore proteomics data for TCAP at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TCAP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003664.1  
    ENSEMBL proteins: 
     ENSP00000312624   ENSP00000462787  
    Reactome Protein details: O15273

    TCAP Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for TCAP (9 products) 

     
    antibodies-online peptides for TCAP

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR015667 Telethonin
     IPR023111 Titin-like_domain

    Graphical View of Domain Structure for InterPro Entry O15273

    ProtoNet protein and cluster: O15273


    Find genes that share domains with TCAP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TELT_HUMAN, O15273
    Function: Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the
    sarcomeric Z-disk

         Genatlas biochemistry entry for TCAP:
    titin-cap,telethonin

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10984498
    GO:0008307structural constituent of muscle IMP9817758
    GO:0030674protein binding, bridging IDA15582318
    GO:0031432titin binding IPI11846417
    GO:0044325ion channel binding IPI11697903
         
    Find genes that share ontologies with TCAP           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for TCAP:
     Decreased G3BP1 protein expres  Decreased viability with pacli  Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tcap):
     behavior/neurological  cardiovascular system  cellular  homeostasis/metabolism  muscle 

    Find genes that share phenotypes with TCAP           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TCAP

    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate TCAP:
    hsa-miR-612 hsa-miR-185* hsa-miR-149 hsa-miR-1283 hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-1285
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TELT_HUMAN, O15273: Cytoplasm, myofibril, sarcomere
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    extracellular2
    cytoskeleton1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0030018Z disc IDA17921333
    GO:0031674I band ISS--

    Find genes that share ontologies with TCAP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TCAP About    
    See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82


    Find genes that share SuperPaths with TCAP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for TCAP
        Striated Muscle Contraction


    1 Reactome Pathway for TCAP
        Striated Muscle Contraction


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TCAP
    Interactions:

        GeneGlobe Interaction Network for TCAP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TCAP (O152731, 2, 3 ENSP000003126244) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2865388 I2D: score=3 STRING: ENSP00000244769
    TRIM63Q969Q12, 3, ENSP000003633904MINT-6503600 I2D: score=2 STRING: ENSP00000363390
    TTNQ8WZ421, 3EBI-954089,EBI-681210 I2D: score=3 
    PDPK1O155302, 3MINT-8265632 I2D: score=2 
    MYOZ1Q9NP982, 3, ENSP000003522724MINT-49881 I2D: score=4 STRING: ENSP00000352272
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    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001756somitogenesis IEA--
    GO:0003009skeletal muscle contraction IEP9817758
    GO:0003300cardiac muscle hypertrophy IMP15582318
    GO:0006461protein complex assembly TAS9817758
    GO:0007512adult heart development IMP9817758

    Find genes that share ontologies with TCAP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for TCAP (TELT)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TCAP gene: 
    NM_003673.3  

    Unigene Cluster for TCAP:

    Titin-cap
    Hs.77628  [show with all ESTs]
    Unigene Representative Sequence: AK096328
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000309889(uc002hsh.3) ENST00000578283
    miRNA
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    hsa-miR-612 hsa-miR-185* hsa-miR-149 hsa-miR-1283 hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-1285
    SwitchGear 3'UTR luciferase reporter plasmidTCAP 3' UTR sequence
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    Primer
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    OriGene qPCR primer pairs and template standards for TCAP
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TCAP
      QuantiTect SYBR Green Assays in human, mouse, rat TCAP
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    Additional mRNA sequence: 

    AJ000491.1 AK096328.1 BC012628.1 BC013330.1 

    5 DOTS entries:

    DT.75122680  DT.120967942  DT.95192122  DT.120967972  DT.95192119 

    Selected AceView cDNA sequences (see all 581):

    BM678613 AJ706657 F24951 AW514072 AW029421 BI821217 F26392 AA743690 
    AJ709441 BU740777 BM666412 F16422 BC008356 BM670957 AA877905 F27963 
    F29909 BQ003142 AI208683 AI540747 AI052451 AI869902 BM720237 F29561 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TCAP    About this scheme

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


    ECgene alternative splicing isoforms for TCAP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TCAP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTAAAAAAA
    TCAP Expression
    About this image

    TCAP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TCAP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.77628

    UniProtKB/Swiss-Prot: TELT_HUMAN, O15273
    Tissue specificity: Heart and skeletal muscle

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TCAP gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tcap1 , 5 titin-cap1, 5 85.43(n)1
    90.42(a)1
      11 (61.75 cM)5
    213931  NM_011540.21  NP_035670.21 
     983838115 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tcap1 titin-cap 60.33(n)
    53.37(a)
      100380097  XM_002940368.2  XP_002940414.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tcap1 titin-cap (telethonin) 50.41(n)
    40.85(a)
      556258  XM_679011.5  XP_684103.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TCAP (see all 131)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0294484
    Cardiomyopathy, familial hypertrophic (CMH)4--see VAR_0294482 R H mis40--------
    VAR_0266504
    Cardiomyopathy, dilated 1N (CMD1N)4--see VAR_0266502 R W mis40--------
    VAR_0294464
    Cardiomyopathy, dilated 1N (CMD1N)4--see VAR_0294462 E Q mis40--------
    VAR_0294474
    Cardiomyopathy, familial hypertrophic (CMH)4--see VAR_0294472 T I mis40--------
    VAR_0266514
    Cardiomyopathy, dilated 1N (CMD1N)4--see VAR_0266512 P L mis40--------
    VAR_0153974
    Cardiomyopathy, dilated 1N (CMD1N)4--see VAR_0153972 R Q mis40--------
    rs1048946551,2
    Cpathogenic138609229(+) ACCACC/TAGCAG 2 Q * stg10--------
    rs1214342981,2
    Cpathogenic138609332(+) CCAGCA/GGGTAC 2 Q R mis10--------
    rs1452416301,2
    --38607042(+) CCTCTA/CCTGGG 1 -- us2k10--------
    rs1159295621,2
    F--38607087(+) TGAAAC/GATGCC 1 -- us2k11Minor allele frequency- G:0.07WA 118

    HapMap Linkage Disequilibrium report for TCAP (37820440 - 37822808 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for TCAP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908207CNV Loss21882294
    nsv528093CNV Loss19592680
    nsv457738CNV Loss19166990
    dgv3162n71CNV Loss21882294
    nsv908213CNV Loss21882294
    dgv40n68CNV Loss17160897
    nsv908214CNV Loss21882294
    nsv516757CNV Loss19592680
    nsv908215CNV Loss21882294

    Human Gene Mutation Database (HGMD): TCAP
    Locus Specific Mutation Databases (LSDB): TCAP

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604488   
    OMIM disorders: 601954  607487  
    UniProtKB/Swiss-Prot: TELT_HUMAN, O15273
  • 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. 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for TCAP:    
    About MalaCards
    limb-girdle muscular dystrophy, type 2g    tcap-related familial hypertrophic cardiomyopathy    cardiomyopathy, dilated, 1n    tcap-related dilated cardiomyopathy
    muscular dystrophy with rimmed vacuoles    familial hypertrophic cardiomyopathy    cardiomyopathy, familial hypertrophic, 1    hypertrophic cardiomyopathy, midventricular, digenic
    limb-girdle muscular dystrophy    neuromuscular disease    muscular dystrophy    cardiomyopathy, dilated, 1w

    2 diseases from the University of Copenhagen DISEASES database for TCAP:
    limb-girdle muscular dystrophy     Dilated cardiomyopathy

    Find genes that share disorders with TCAP           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TCAP gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lgmd2g 98.5 23 10069710 (4), 11665864 (3), 20233748 (2), 14959561 (1) (see all 9)
    lgmd2h 93.8 7 14959561 (1), 15316618 (1), 10069710 (1), 11665864 (1)
    lgmd2f 90.4 6 10069710 (2), 14959561 (1), 15316618 (1)
    lgmd2b 90.2 11 11665864 (3), 14959561 (1), 15316618 (1), 12379311 (1) (see all 5)
    lgmd2e 89.8 5 14959561 (1), 15316618 (1), 10069710 (1)
    muscular dystrophy, limb-girdle, autosomal recessive 89.5 2 10069710 (2)
    lgmd2a 87 13 10069710 (3), 11665864 (3), 14959561 (1), 15316618 (1) (see all 5)
    lgmd2i 85.8 5 14959561 (1), 15316618 (1), 18645206 (1)
    lgmd1a 83.3 2 15316618 (1)
    muscular dystrophy limb-girdle 78.7 2 15043707 (1), 19679566 (1)

    GeneTests: TCAP
    GeneReviews: TCAP
    Genetic Association Database (GAD): TCAP
    Human Genome Epidemiology (HuGE) Navigator: TCAP (9 documents)

    Export disorders for TCAP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TCAP gene, integrated from 10 sources (see all 89):
    (articles sorted by number of sources associating them with TCAP)
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    world of online information

    1. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. (PubMed id 15582318)1, 2, 4, 9 Hayashi T.... Kimura A. (J. Am. Coll. Cardiol. 2004)
    2. Telethonin, a novel sarcomeric protein of heart and skeletal muscle. (PubMed id 9350988)1, 2, 3, 9 Valle G.... Lanfranchi G. (FEBS Lett. 1997)
    3. Evidence for a dimeric assembly of two titin/telethonin complexes induced by the telethonin C-terminus. (PubMed id 16713295)1, 2, 9 Pinotsis N....Wilmanns M. (J. Struct. Biol. 2006)
    4. Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin. (PubMed id 9645487)1, 2, 9 Mues A.... Gautel M. (FEBS Lett. 1998)
    5. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. (PubMed id 19412328)1, 4, 9 Hershberger R.E....Litt M. (Clin Transl Sci 2008)
    6. Deletion of Glu at codon 13 in the TCAP gene encoding the Z-disc protein titin-cap/telethonin is a rare non-synonymous polymorphism. (PubMed id 16490376)1, 2, 9 Perrot A.... Osterziel K.J. (Mol. Genet. Metab. 2006)
    7. Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. (PubMed id 16352453)1, 2, 9 Bos J.M.... Ackerman M.J. (Mol. Genet. Metab. 2006)
    8. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. (PubMed id 12507422)1, 2, 9 Knoell R.... Chien K.R. (Cell 2002)
    9. Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk. (PubMed id 16407954)1, 2, 9 Zou P.... Wilmanns M. (Nature 2006)
    10. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. (PubMed id 11842093)1, 2, 9 Frey N. and Olson E.N. (J. Biol. Chem. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8557 HGNC: 11610 AceView: TCAPandSTARD3 Ensembl:ENSG00000173991 euGenes: HUgn8557
    ECgene: TCAP H-InvDB: TCAP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TCAP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TCAP Genetics and Cytogenetics in Oncology and Haematology
    LEIDEN Muscular Dystrophy page for TCAP Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TCAP[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TCAP gene:
    Search GeneIP for patents involving TCAP

    GeneCards and IP:
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