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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TCAP Gene

protein-coding   GIFtS: 63
GCID: GC17P037818

titin-cap

(Previous names: limb girdle muscular dystrophy 2G (autosomal recessive),...)
(Previous symbol: LGMD2G)
 Explore 23 diseases affiliated with
TCAP via our new
 Human Malady Compendium 
Biological research products
for TCAP
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Titin-Cap1     Limb Girdle Muscular Dystrophy 2G (Autosomal Recessive)1 2
CMD1N1 2 5     Telethonin1
LGMD2G1 2 5     Titin Cap Protein2 3
T-Cap1     Titin-Cap (Telethonin)1
TELE1 2     19 KDa Sarcomeric Protein2

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TCAP:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TCAP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Cytoplasm, myofibril, sarcomere
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15273

  • TCAP Protein expression data from MOPED and PaxDb:    About this image 
    TCAP Protein Expression
    REFSEQ proteins: NP_003664.1  
    ENSEMBL proteins: 
     ENSP00000312624   ENSP00000462787  
    Reactome Protein details: O15273
    Human Recombinant Protein Products for TCAP: 
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TCAP

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0030018Z disc IDA9817758
    GO:0031674I band ISS--

    TCAP for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TCAP


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TCAP for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR015667 Telethonin
     IPR023111 Titin-like_domain

    Graphical View of Domain Structure for InterPro Entry O15273

    ProtoNet protein and cluster: O15273


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15582318
    GO:0008307structural constituent of muscle IMP9817758
    GO:0030674protein binding, bridging IDA15582318
    GO:0031432titin binding IPI15582318
    GO:0044325ion channel binding IPI11697903
         
    TCAP for ontologies           About GeneDecksing


    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 

    TCAP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TCAP 

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TCAP
    7 QIAGEN miScript miRNA 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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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Striated Muscle Contraction
    Striated Muscle Contraction1.00
    Muscle contraction0.65
    Striated Muscle Contraction0.87

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for TCAP 
        Striated Muscle Contraction

    2        Reactome Pathways for TCAP
        Muscle contraction
    Striated Muscle Contraction



    TCAP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TCAP

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

    5/41 Interacting proteins for TCAP (O152731, 2, 3 ENSP000003126244) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    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-3448943 I2D: score=3 
    PDPK1O155302, 3MINT-8265632 I2D: score=2 
    MYOZ1Q9NP982, 3, ENSP000003522724MINT-49881 I2D: score=4 STRING: ENSP00000352272
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (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:0006950response to stress TAS17921333

    TCAP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TCAP
    Search CenterWatch for drugs/clinical trials and news about TCAP / TELT 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Additional cDNA sequence: 

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

    5 DOTS entries:

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

    24/581 AceView cDNA sequences (see all 581):

    CB105314 F31232 BC025679 AI140550 AI969172 NM_006804 AW731937 BG319526 
    BM987938 BM768106 BF724450 F36245 AK123364 BM678613 AA809725 AI208683 
    F15846 AL709938 AW627874 X80198 AJ706657 BM717616 F27695 D38255 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TCAP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTAAAAAAA
    TCAP Expression
    About this image
    See TCAP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TCAP

    SOURCE GeneReport for Unigene cluster: Hs.77628

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

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for TCAP gene from 2/6 species (see all 6)    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 
    zebrafish
    (Danio rerio)
    Actinopterygii tcap1 titin-cap (telethonin) 50.52(n)
    41.61(a)
      556258  XM_679011.4  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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/88 NCBI SNPs in TCAP are shown (see all 88    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048946551,2
    Cpathogenic37822015(+) ACCACC/TAGCAG 2 Q * stg10--------
    rs1452416301,2
    --37819828(+) CCTCTA/CCTGGG 4 -- ut31 us2k10--------
    rs1159295621,2
    F--37819873(+) TGAAAC/GATGCC 4 -- ut31 us2k11Minor allele frequency- G:0.07WA 118
    rs1810368311,2
    --37819875(+) AAACAC/TGCCCC 4 -- ut31 us2k10--------
    rs1448134411,2
    --37819885(+) CCATT-/CCCCCC 4 -- ut31 us2k10--------
    rs1855009971,2
    --37820056(+) CAAGCC/TTTGAC 4 -- ut31 us2k10--------
    rs455260351,2
    C,F--37820160(+) CACCCA/GTTCCC 4 -- us2k1 ut315Minor allele frequency- G:0.01NS WA 604
    rs29415111,2
    C,A--37820175(-) TGCCGT/CGCGGG 4 -- us2k1 ut315Minor allele frequency- C:0.04NS CSA 488
    rs1422854261,2
    --37820176(+) CCGCAC/TGGCAC 4 -- us2k1 ut310--------
    rs1512395441,2
    --37820194(+) AGGGGC/TGGCCT 4 -- us2k1 ut310--------

    HapMap Linkage Disequilibrium report for TCAP (37820440 - 37822808 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for TCAP
         3 CNVs: 49854 49855 49853
    Human Gene Mutation Database (HGMD): TCAP

    Locus Specific Mutation Databases (LSDB): TCAP

    SABiosciences Cancer Mutation 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.)
    About This Section

    TCAP for disorders           About GeneDecksing

    OMIM gene information: 604488   
    OMIM disorders: 601954  607487  
    UniProtKB/Swiss-Prot: TELT_HUMAN, O15273
  • Defects in TCAP are a cause of familial hypertrophic cardiomyopathy (CMH) [MIM:192600]; also designated FHC or
  • HCM. Familial hypertrophic cardiomyopathy is 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
  • Defects in TCAP are a cause of limb-girdle muscular dystrophy type 2G (LGMD2G) [MIM:601954]. LGMD2G is 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
  • Defects in TCAP are the cause of cardiomyopathy dilated type 1N (CMD1N) [MIM:607487]. Dilated cardiomyopathy
  • is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart
    failure and arrhythmia. Patients are at risk of premature death

    20/23 diseases for TCAP (see all 23):    About MalaCards
    limb-girdle muscular dystrophy    muscular dystrophy    limb-girdle muscular dystrophy, type 2g    myringitis bullosa hemorrhagica
    muscular dystrophy with rimmed vacuoles    hypertrophic cardiomyopathy    myofibrillar myopathy    dilated cardiomyopathy
    neuromuscular disease    congenital muscular dystrophy    urticaria pigmentosa    dysferlinopathy
    cardiomyopathy    urticaria    diabetic retinopathy    myopathy
    paralysis    prostate cancer    breast cancer    ataxia

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

    10/17 Novoseek 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
    Familial Hypertrophic Cardiomyopathy
    Dilated Cardiomyopathy

    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)
    About This Section

    PubMed articles for TCAP gene, integrated from 9 sources (see all 87):
    (articles sorted by number of sources associating them with TCAP)
        Utopia: connect your pdf to the dynamic
    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. (2004)
    2. Telethonin, a novel sarcomeric protein of heart and skeletal muscle. (PubMed id 9350988)1, 2, 3, 9 Valle G.... Lanfranchi G. (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. (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. (1998)
    5. 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. (2006)
    6. 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. (2006)
    7. 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. (2002)
    8. Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk. (PubMed id 16407954)1, 2, 9 Zou P.... Wilmanns M. (2006)
    9. 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. (2002)
    10. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. (PubMed id 10655062)1, 2, 9 Moreira E.S.... Jenne D.E. (2000)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/TCAP

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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