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FLASH GENE
Symbol MYH7 contributors: mct/npt - updated : 23-10-2009
HGNC name myosin, heavy chain 7, cardiac muscle, beta
HGNC id 7577
Corresponding disease
CMH1 cardiomyopathy, familial, hypertrophic and dilated
MMS myopathy myosin storage
MPD1 myopathy, distal 1
NVMHD noncompaction of the ventricular myocardium with heart defects
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, 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
    Physical map
    RNPC4 14q11.2 RNA-binding region (RNP1, RRM) containing 4 SKB1 14q11.2-q21 SKB1 homolog (S. pombe) C14orf94 14q11.1 chromosome 14 open reading frame 94 JUB 14q11.2 jub, ajuba homolog (Xenopus laevis) C14orf93 14q11.1 chromosome 14 open reading frame 93 PSMB5 14q11.2 proteasome (prosome, macropain) subunit, beta type, 5 LOC122706 14q11.2 similar to RIKEN cDNA 5830406J20 CDH24 14q11.2 cadherin-like 24 ACINUS 14q11.2 apoptotic chromatin condensation inducer in the nucleus C14orf119 14q11.2 chromosome 14 open reading frame 119 CEBPE 14q11.2 CCAAT/enhancer binding protein (C/EBP), epsilon SLC7A8 14q11.2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 RPL39P2 14 ribosomal protein L39 pseudogene 2 HMGN2P 14 high-mobility group nucleosomal binding domain 2 pseudogene KIAA1443 14q11.2 KIAA1443 LOC90673 BCL2L2 14q11.2-q12 BCL2-like 2 PABPN1 14q11.2-q13 poly(A) binding protein, nuclear 1 SLC22A17 14q11.2 solute carrier family 22 (organic cation transporter), member 17 EFS 14q11.2-q12 embryonal Fyn-associated substrate IL17E 14q11.2 interleukin 17E CKLFSF5 14q11.2 chemokine-like factor super family 5 MYH6 14q11.2 myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1) MYH7 14q11.2 myosin, heavy polypeptide 7, cardiac muscle, beta C14orf120 14q11.2 chromosome 14 open reading frame 120 ZFHX2 14q11.2 zinc finger homeobox 2 ZNF409 14q11.2 zinc finger protein 409 THTPA 14q11.2 thiamine triphosphatase AP1G2 14q11.2 adaptor-related protein complex 1, gamma 2 subunit JPHL1 14q11 junctophilin like 1 LOC387974 14 LOC387974 DHRS2 14q11.2 dehydrogenase/reductase (SDR family) member 2 BRD7P 14q11.2 bromodomain containing 7 pseudogene
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    40 - 6044 223 1935 - Warlick (1992)
    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
    • 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
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMH1 , MPD1 , MMS , NVMHD
    related resource FHC Mutation Database
    Susceptibility to idiopathic dilated cardiomyopathy
    Variant & Polymorphism other mutated in idiopathic dilated cardiomyopathy (Moller 2009)
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularaquiredheart failure
    activation of myosin by omecamtiv mecarbil may provide a new therapeutic approach for systolic heart failure
    ANIMAL & CELL MODELS