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FLASH GENE
Symbol MYL2 contributors: mct - updated : 11-03-2011
HGNC name myosin, light polypeptide 2, regulatory, cardiac, slow
HGNC id 7583
Corresponding disease
CMH10 cardiomyopathy, familial, hypertrophic, 10
Location 12q24.12      Physical location : 111.348.625 - 111.358.404
Synonym name
  • myosin regulatory light chain
    • Synonym symbol(s) RLC, HCRLC
    DNA
    TYPE functioning gene
    STRUCTURE 9.78 kb     7 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
    7 - 855 - 166 - 2006 16809551
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an EF-hand Ca2+–Mg2+ binding site and also a highly conserved phosphorylatable serine, both sites located at the N terminus
  • three EF-hand calcium-binding domain
    • secondary structure two heavy chains and four light chains
    mono polymer hexamer
    HOMOLOGY
    interspecies homolog to murine Mylpc
    Homologene
    FAMILY
    CATEGORY motor/contractile , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • regulatory light chain associated with cardiac myosin beta (or slow) heavy chain, playing a role in in the regulation of cardiac muscle contraction
  • required for thick-filament stabilization and contractility in the vertebrate heart
  • regulatory component of myosin heavy polypeptide, that may play a role in the development and progression of chronic heart failure
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cardiovascular , locomotion
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein EF hand calcium binding protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMH10
    related resource FHC Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in heart failure tissue
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS