Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

TCAP Gene

protein-coding   GIFtS: 62
GCID: GC17P037818

Titin-Cap

(Previous names: limb girdle muscular dystrophy 2G (autosomal recessive),...)
(Previous symbol: LGMD2G)
  See 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)
About This Section

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

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, and among its related super-pathways are Striated Muscle Contraction. GO annotations related to this gene include structural constituent of muscle and protein binding, bridging.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for TCAP at MOPED 

Post-translational modifications:

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

  • TCAP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for TCAP
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for TCAP
    GenScript Custom Purified and Recombinant Proteins Services for TCAP
    Novus Biologicals TCAP Proteins
    Novus Biologicals TCAP Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    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 IDA17921333
    GO:0031674I band ISS--

    TCAP for ontologies           About GeneDecksing



    TCAP Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for TCAP
    OriGene Custom Antibody Services for TCAP
    GenScript Custom Superior Antibodies Services for TCAP
    Novus Biologicals TCAP Antibodies
    Abcam antibodies for TCAP
    Browse Antibodies at Cloud-Clone Corp. 
    Search ThermoFisher Antibodies for TCAP
    LSBio Antibodies in human, mouse, rat for TCAP 

    Assay Products for TCAP: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TCAP
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TCAP
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


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

    Graphical View of Domain Structure for InterPro Entry O15273

    ProtoNet protein and cluster: O15273


    TCAP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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 IPI10984498
    GO:0008307structural constituent of muscle IMP9817758
    GO:0030674protein binding, bridging IDA15582318
    GO:0031432titin binding IPI11846417
    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 - Custom generated mouse model solutions for TCAP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TCAP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TCAP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TCAP 

    miRNA
    Products:
        
    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
    SwitchGear 3'UTR luciferase reporter plasmidTCAP 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TCAP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TCAP

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TCAP
    Sirion Biotech Customized adenovirus for overexpression of TCAP

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for TCAP (see all 6)
    OriGene ORF clones in mouse, rat for TCAP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TCAP (NM_003673)
    Sino Biological Human cDNA Clone for TCAP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TCAP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TCAP
    Sirion Biotech Customized lentivirus for stable overexpression of TCAP 
                         Customized lentivirus expression plasmids for stable overexpression of TCAP 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TCAP
    Search LifeMap BioReagents cell lines for TCAP
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCAP


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TCAP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.87
    Muscle contraction0.65
    Striated Muscle Contraction0.87

    Pathways by source                                                                                                                                                                 See SuperPaths
    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-681210 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, Ligands according to IUPHAR, 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 (TELT)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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
    Products:
         
    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
    SwitchGear 3'UTR luciferase reporter plasmidTCAP 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TCAP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TCAP
    Clone
    Products:
         
    OriGene clones in human, mouse for TCAP (see all 6)
    OriGene ORF clones in mouse, rat for TCAP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TCAP (NM_003673)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TCAP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TCAP
    Sirion Biotech Customized lentivirus for stable overexpression of TCAP 
                         Customized lentivirus expression plasmids for stable overexpression of TCAP 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TCAP
    OriGene qSTAR qPCR primer pairs in human, mouse for TCAP
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TCAP
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TCAP
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TCAP

    Additional mRNA 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):

    BU189234 AW514072 BU626412 BX114641 BM717616 BM670957 AJ706657 F27695 
    BM684411 AU139247 BU629418 CR617708 F16422 CK429997 BC047766 AJ709960 
    AI869902 F36245 BM720992 BM695236 F27690 BM759174 BM720237 BM671989 

    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 <intensity>2/3
    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

        SABiosciences Custom PCR Arrays for TCAP
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for TCAP
    OriGene qSTAR qPCR primer pairs in human, mouse for TCAP
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TCAP
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TCAP
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TCAP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCAP

    (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, 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) 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

    10/131 SNPs in TCAP are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TCAP
    DNA2.0 Custom Variant and Variant Library Synthesis for TCAP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/24 diseases for TCAP (see all 24):    About MalaCards
    limb-girdle muscular dystrophy, type 2g    tcap-related familial hypertrophic cardiomyopathy    myringitis bullosa hemorrhagica    tcap-related dilated cardiomyopathy
    limb-girdle muscular dystrophy    dysferlinopathy    neuromuscular disease    muscular dystrophy
    urticaria pigmentosa    myofibrillar myopathy    familial hypertrophic cardiomyopathy    urticaria
    dilated cardiomyopathy    hypertrophic cardiomyopathy    congenital muscular dystrophy    syncope
    paralysis    myopathy    congestive heart failure    diabetic retinopathy

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

    TCAP for disorders           About GeneDecksing

    10/17 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)
    About This Section

    PubMed articles for TCAP gene, integrated from 9 sources (see all 88):
    (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. 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. (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. (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. (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. (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. (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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for TCAP   OriGene RNAi products in human, mouse, rat for TCAP  
     OriGene qPCR primer pairs and template standards for TCAP   OriGene Protein Over-expression Lysate for TCAP  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for TCAP  
     OriGene qSTAR qPCR primer pairs in human, mouse for TCAP   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for TCAP   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TCAP   OriGene Custom Protein Services for TCAP  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TCAP
     QIAGEN SeqTarget long-range PCR primers for resequencing TCAP
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TCAP
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TCAP
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TCAP
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TCAP
     GenScript Custom Purified and Recombinant Proteins Services for TCAP GenScript cDNA clones with any tag delivered in your preferred vector for TCAP
     GenScript Custom Assay Services for TCAP GenScript Custom Superior Antibodies Services for TCAP
     GenScript Custom overexpressing Cell Line Services for TCAP CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in TCAP promoter
     Search Chromatin IP Primers for TCAP
     RT2 qPCR Primer Assay in human, mouse, rat TCAP
     GNC Network for TCAP
     SABiosciences Custom PCR Arrays for TCAP
     Search Tocris compounds for TCAP (TELT)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for TCAP
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     TCAP antibodies
     TCAP proteins
     TCAP lysates
     Antibodies for TCAP
     See all of Abcam's Antibodies, Kits and Proteins for TCAP
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for TCAP
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCAP
     SwitchGear 3'UTR luciferase reporter plasmids for TCAP
     SwitchGear Promoter luciferase reporter plasmids for TCAP
     Search ThermoFisher Antibodies for TCAP
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TCAP
     inGenious Targeting Laboratory - Custom generated mouse model solutions for TCAP
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TCAP
    Customized:
     lentivirus for stable overexpression of TCAP
     lentivirus expression plasmids for stable overexpression of TCAP
     adenovirus for overexpression of TCAP
     LSBio Antibodies in human, mouse, rat for TCAP
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      TCAP gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4