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FLASH GENE
Symbol MYH7 contributors: mct/npt - updated : 16-01-2018
HGNC name myosin, heavy chain 7, cardiac muscle, beta
HGNC id 7577
Corresponding disease
CMD1S cardiomyopathy, familial, hypertrophic and dilated,1S
MMS myopathy myosin storage
MPD1 myopathy, distal 1
SPMM scapuloperoneal syndrome, myopathic type
Location 14q11.2      Physical location : 23.881.947 - 23.904.870
Synonym name
  • myosin, heavy polypeptide 7, cardiac muscle, beta
  • rhabdomyosarcoma antigen MU-RMS-40.7A
  • beta-myosin heavy chain
  • myosin heavy chain slow isoform
  • Synonym symbol(s) MYHCB, BetaMHC, MGC138378, MPD1, CMD1S, DKFZp451F047, MGC138376, SPMD, SPMM
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head, opposite orientation
    text head to head orientation with alpha cardiac myosin gene
    STRUCTURE 22.92 kb     40 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see MYH6
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    40 - 6044 223 1935 - 1992 1301151
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivemouthtongue   
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a globular head (associating to the light chain and containing actin and ATP binding sites)
  • a neck containing IQ calmodulin or calmodulin-like light chain binding domain (the converter) connected to the base of a long alpha helical tail,(the liver)
  • a light meromyosin domain of the myosin rod (LMM)important for thick filament assembly or for accessory protein binding
  • four coiled-coil regions of a sarcomeric myosin rod, and rod of sarcomeric myosins directs thick filament assembly and is characterized by the insertion of four skip residues that introduce discontinuities in the coiled-coil heptad repeats
  • secondary structure two heavy chains subunits (mhc), two alkali light chain subunits (mlc) and two regulatory light chain subunits (mlc2)
    HOMOLOGY
    interspecies homolog to murine Myhcb
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text sarcomeric protein
    basic FUNCTION
  • motor contractile protein moving towards the "plus" end of actin track
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MKX regulating the transcription of MYH7 through repression of SOX6 which predicts a role in fiber type specificity
  • MSTN positively regulates slow isoform MYH7 but negatively regulates fast isoforms MYH1, MYH4
  • FOXO1 has important roles in promoting diabetic cardiomyopathy and controls MYH7 expression in the development of cardiac dysfunction
  • cell & other
    REGULATION
    repressed by repressed by thyroid hormone (T3)
    ASSOCIATED DISORDERS
    corresponding disease(s) CMD1S , MPD1 , MMS , SPMM
    related resource FHC Mutation Database
    Susceptibility to idiopathic dilated cardiomyopathy
    Variant & Polymorphism other mutated in idiopathic dilated cardiomyopathy (Moller 2009)
    Candidate gene
    Marker
  • MYH7, IGFBP7, ANXA2, and DES are all excellent candidate plasma biomarkers of heart failure
  • Therapy target
    SystemTypeDisorderPubmed
    cardiovascularaquiredheart failure
    activation of myosin by omecamtiv mecarbil may provide a new therapeutic approach for systolic heart failure
    ANIMAL & CELL MODELS