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FLASH GENE
Symbol MYOZ2 contributors: shn/npt - updated : 18-03-2009
HGNC name myozenin 2
HGNC id 1330
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • alpha helices and several posible phosphorylation sites
  • shares the C-terminal motif E[ST][DE][D/E]L, which has the characteristics of a class III type PDZ domain binding sequence
    • HOMOLOGY
    interspecies ortholog to Myoz2, Mus musculus
    ortholog to Myoz2, rattus norvegicus
    ortholog to MYOZ2, Pan troglodytes
    ortholog to myoz2, Danio rerio
    Homologene
    FAMILY
  • myozenin family
    • CATEGORY motor/contractile , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • may serve as intracellular binding proteins involved in linking Z-disk proteins
  • plays an important role in the modulation of calcineurin signaling
  • may have an important role in modulating the function and substrate specificity of calcineurin in striated muscle cells
  • may play a role in myofibrillogenesis
  • MYOZ2 modulates calcineurin signaling in striated muscles in vivo and influences the response of the heart to biomechanical stress
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with TCAP, which tethers the calcineurin to the Z-disc
  • calcineurin
  • gamma-filamin
  • interacts with family members ZASP/Cypher, CLP-36, ALP,
    • and RIL
  • ACTN2,ATCN1, LDB3, MYOT and PPP3CA
  • Z- band alternatively spliced PDZ motif-cntaining protein (ZASP)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Myoz2 -/- mice showed an enhanced calcineurin signaling in striated muscle, an excess of slow skeletal muscle fibers and an accelerated cardiomyopathy in response to pathological biomechanical stress
  • Myoz2-overexpressing mice did not develop cardiac hypertrophy and had no impairment of contractile function by cardiac catheterization and echocardiography