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FLASH GENE
Symbol MYL9 contributors: mct/npt/pgu - updated : 24-06-2009
HGNC name myosin, light chain 9, regulatory
HGNC id 15754
Location 20q11.23      Physical location : 35.169.896 - 35.178.226
Synonym name
  • myosin, light polypeptide 9, regulatory
  • myosin regulatory light chain 2, smooth muscle isoform
  • myosin regulatory light chain 1
  • Synonym symbol(s) MLC2, MYRL2, MLRN, LC20, MRLC1, MGC3505, MLC-2C, MLC20
    DNA
    TYPE functioning gene
    STRUCTURE 8.33 kb     4 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
    4 - 1212 19.7 172 - 2001 11780052
    3 - 1044 13.7 118 - 2001 11780052
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Reproductivemale systemprostate  highly
    Visualeyeuvea   
     eyelacrimal gland   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Connectivecartilage   
    Epithelialsecretoryglandular  
    Epithelialsensoryvisual  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer hexamer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • may be regulating ATPase activity of myosin heads
  • playing an important role in regulation of both smooth muscle and nonmuscle cell contractile activity
  • required for invasion and lung colonization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • interacting with PNKD
  • transcriptional target of RUNX1, providing a mechanism for decreased platelet MYL9 expression, myosin light chainphosphorylation, thrombocytopenia, and platelet dysfunction associated with RUNX1 mutations
  • cell & other
    REGULATION
    Other its phosphorylation is involved in uterine contractions (are mainly regulated by phosphorylation of MYL9 by Ca2+/calmodulin-dependent myosin light chain kinase)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in thrombocytopenia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS