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FLASH GENE
Symbol MYOZ2 contributors: shn/npt - updated : 18-03-2009
HGNC name myozenin 2
HGNC id 1330
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 splicing 2.616 30 264 specific to heart and skeletal muscle Ahmad et al, 2000
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   specific
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac  
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text developing cardiac and skeletal muscle
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