Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MYOZ2 contributors: shn/npt - updated : 18-03-2009
HGNC name myozenin 2
HGNC id 1330
Location 4q26      Physical location : 120.056.938 - 120.108.935
Synonym name
  • chromosome 4 open reading frame 5
  • calsarcin-1, FATZ-related protein 2
  • muscle-specific protein calcineurin-binding protein calsarcin-1
    Synonym symbol(s) CS-1, C4orf5
    DNA
    TYPE functioning gene
    STRUCTURE 51.99 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D4S191 - D4S3024 - MYOZ2 - D4S402 - D4S427 - qter
    Physical map
    MGC26568 NT5C3P1 4q26 5'-nucleotidase, cytosolic III pseudogene 1 NDST3 4q26 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 PRSS12 4q24-q25 protease, serine, 12 (neurotrypsin, motopsin) MGC26143 4q27 hypothetical protein MGC26143 LOC389220 4 LOC389220 LOC391690 4 similar to capicua homolog KIAA1627 4q27 KIAA1627 protein SEC24D 4q26 SEC24 related gene family, member D (S. cerevisiae) SYNPO2 4q26 synaptopodin 2 MYOZ2 4q26-q27 myozenin 2 MRPL42P1 4q27 myozenin 2 KIAA1350 FABP2 4q28-q31 fatty acid binding protein 2, intestinal LOC201989 4q27 similar to Glycerol kinase, testis specific 1 (ATP:glycerol 3-phosphotransferase) (Glycerokinase) (GK) LOC389221 4 similar to hypothetical protein LOC349114 LOC389222 4 LOC389222 LOC152972 4q27 similar to bA291L22.2 (similar to CDC10 (cell division cycle 10, S. cerevisiae, homolog)) PDE5A 4q26 phosphodiesterase 5A, cGMP-specific LOC391691 4 similar to ARHGAP20 protein MAD2L1 4q27 MAD2 mitotic arrest deficient-like 1 (yeast) LOC344988 4q27 similar to GTP-binding protein SAR1a (COPII-associated small GTPase) PRDM5 4q27 PR domain containing 5 FLJ23191 4q27 hypothetical protein FLJ23191 TNIP3 4q27 TNFAIP3 interacting protein 3
    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