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FLASH GENE
Symbol CMYA5 contributors: mct - updated : 16-02-2011
HGNC name cardiomyopathy associated 5
HGNC id 14305
Location 5q14.1      Physical location : 78.985.658 - 79.096.048
Synonym name
  • myospryn
  • chromosome 5 open reading frame 10
  • genethonin-3
  • tripartite motif-containing 76
  • CMYA5 protein
  • dystrobrevin binding protein 2
  • Synonym symbol(s) DTNBP2, SPRYD2, TRIM76, C5orf10, DKFZp451A043, DKFZp451A076, 2310076E16Rik
    DNA
    TYPE functioning gene
    STRUCTURE 110.40 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 12911 449 4069 - 2010 20634290
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac specific Homo sapiens
    Muscularstriatumskeletal specific Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain (N-(1-103)) binds to a 413-kDa TRIM-like protein, myospryn (CMYA5) with a repetitive, acidic N-terminal part
  • a FN3 domain and the SPRY domain are needed for titin M10 binding
  • C terminus with BBC, FN3, and SPRY domains in a configuration reminiscent of the tripartite motif protein family, as well as the dysbindin-binding site and a region mediating self-association
  • and a domain structure related to the tripartite motif proteins
    HOMOLOGY
    Homologene
    FAMILY
  • SPla/RYanodine receptor (SPRY) family
  • tripartite motif superfamily
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • sarcoplasmic reticulum
  • localized to the costamere
  • characterization of CMYA5 and XIRP2 revealed localization of their protein products to the muscle costamere
  • basic FUNCTION
  • Z-disc-related protein, costameric protein functioning as a muscle-specific protein kinase A (PKA) anchoring protein or AKAP1
  • functions directly downstream of MEF2A at the costamere in striated muscle potentially playing a role in myofibrillogenesis
  • having ability to anchor AKAP1 at the costamere (may have profound regulatory implications given that dystrophin has been shown to be phosphorylated by AKAP1)
  • muscle-specific protein which function in vesicular trafficking and protein kinase A signaling and implicated in the pathogenesis of Duchenne muscular dystrophy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to dysbindin
  • direct molecular interactions of myospryn with the M-band part of the sarcomeric protein titin and with the skeletal muscle-specific protease calpain 3
  • XIRP2 and CMYA5 are MEF2A-dependent genes that encode costamere-localized proteins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    dysregulation of expression in Duchenne muscular dystrophy
    Susceptibility to left ventricular wall thickness in patients with hypertension
    Variant & Polymorphism other polymorphism of myospryn is associated with left ventricular hypertrophy in patients with hypertension
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS