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    Tcap titin-cap [ Mus musculus (house mouse) ]

    Gene ID: 21393, updated on 9-Dec-2024

    Summary

    Official Symbol
    Tcapprovided by MGI
    Official Full Name
    titin-capprovided by MGI
    Primary source
    MGI:MGI:1330233
    See related
    Ensembl:ENSMUSG00000007877 AllianceGenome:MGI:1330233
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable several functions, including BMP binding activity; cytoskeletal protein binding activity; and titin Z domain binding activity. Predicted to be a structural constituent of muscle. Involved in adult heart development; otic vesicle formation; and somitogenesis. Located in Z disc. Is expressed in embryo; heart; otocyst; tail somite; and trunk somite. Used to study autosomal recessive limb-girdle muscular dystrophy type 2G. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2G and hypertrophic cardiomyopathy 25. Orthologous to human TCAP (titin-cap). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in heart adult (RPKM 497.5), mammary gland adult (RPKM 96.5) and 1 other tissue See more
    Orthologs
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    Genomic context

    See Tcap in Genome Data Viewer
    Location:
    11 D; 11 61.75 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (98274637..98275779)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (98383811..98384953)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700003D09 gene Neighboring gene protein phosphatase 1, regulatory inhibitor subunit 1B Neighboring gene STARR-positive B cell enhancer ABC_E7055 Neighboring gene STARR-positive B cell enhancer ABC_E7056 Neighboring gene StAR related lipid transfer domain containing 3 Neighboring gene phenylethanolamine-N-methyltransferase Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:98254740-98254849 Neighboring gene post-GPI attachment to proteins 3 Neighboring gene STARR-seq mESC enhancer starr_30667

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables BMP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables BMP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables FATZ binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables FATZ binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables molecular adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein-macromolecule adaptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-macromolecule adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables structural constituent of muscle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables structural constituent of muscle IEA
    Inferred from Electronic Annotation
    more info
     
    enables structural constituent of muscle ISO
    Inferred from Sequence Orthology
    more info
     
    enables titin Z domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables titin Z domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables titin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables titin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables titin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transmembrane transporter binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmembrane transporter binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in adult heart development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in adult heart development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cardiac muscle cell development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cardiac muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cardiac muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cardiac muscle hypertrophy ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cardiac muscle hypertrophy in response to stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle hypertrophy in response to stress ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cardiac muscle tissue morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cardiac muscle tissue morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle tissue morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cardiac myofibril assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cardiac myofibril assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac myofibril assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in detection of muscle stretch IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in detection of muscle stretch IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of muscle stretch ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in otic vesicle formation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within sarcomere organization ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in sarcomere organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in sarcomerogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sarcomerogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sarcomerogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in skeletal muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle myosin thick filament assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal muscle myosin thick filament assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle myosin thick filament assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in skeletal muscle thin filament assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal muscle thin filament assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle thin filament assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in somitogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in I band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Z disc ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    telethonin
    Names
    titin cap protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_011540.2NP_035670.2  telethonin

      See identical proteins and their annotated locations for NP_035670.2

      Status: VALIDATED

      Source sequence(s)
      AJ223854
      Consensus CDS
      CCDS25346.1
      UniProtKB/Swiss-Prot
      O70548
      UniProtKB/TrEMBL
      O70549, Q545G3
      Related
      ENSMUSP00000008021.3, ENSMUST00000008021.3
      Conserved Domains (1) summary
      pfam09470
      Location:17167
      Telethonin; Telethonin protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      98274637..98275779
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)