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FLASH GENE
Symbol MYO15A contributors: mct - updated : 12-04-2023
HGNC name myosin XVA
HGNC id 7594
DNA
TYPE functioning gene
STRUCTURE 71.10 kb     66 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - D17S71 - DRG2 - MYO15A /D17S2206 /D17S2207 - D17S2201 - cen see SMCR (phenotype)
Authors Liang (99)
Text (D17S2206 , D17S2207 : polymorphic markers within the MYO15 gene)
regionally located within the Smith-Magenis critical region
RNA
TRANSCRIPTS type messenger
text with several alternatively spliced isoforms (Liang)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
66 - 11876 395 3530 - Nal (2007)
- - - - - - Nal (2007)
  • presence of the exon 2, containing the large N-terminal extension
  • necessary role for normal hearing function
  • - - - - 2327 - Nal (2007)
    absence of the exon 2
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    endocrinebraindiencephalonpituitary  
    Hearing/Equilibriumearinnercochlea  
    Nervousbrainhindbrainmedulla oblongata  
    Reproductivefemale systemovary   
     male systemtestis   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal, pregnancy
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • very long terminal extension with a high proline content preceding the motor domain comprising one consensus ATP binding site and two putative actin-binding sites
  • a neck containing two IQ calmodulin or calmodulin-like chain binding domains and
  • a tail containing two myosin IV-like,and two C terminal talin-like (FERM) (EPB41,ezrin,radixin,moesin) domains, involved in the linkage of cytoplasmic proteins to the membrane
  • a putative SH3 domain
  • conjugated FlavoP
    mono polymer heteromer
    HOMOLOGY
    Homologene
    FAMILY
  • myosin family
  • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    text linked to the plasma membrane
    basic FUNCTION
  • involved in structure and function of auditory and vestibular hair cells
  • playing a necessary role for actin organization in the hair cells of the cochlea
  • may be having a role in secretory granule movement and/or hormone secretion
  • motor protein, necessary for the development of hair cell stereocilia, which are actin-filled projections on the apical surface and the site of mechanotransduction of sound
  • may be involved in cytoplasmic organelle movement, including secretory granules in pituitary cells and pituitary adenomas
  • traffics and delivers critical molecules required for stereocilia development and thus is essential for building the mechanosensory hair bundle
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
  • MYO15A, DFNB31, and EPS8 are integral components of the stereocilia tip complex, where EPS8 is a central actin-regulatory element for elongation of the stereocilia actin core
  • MYO15A-EPS8 complex transports BAIAP2L2 to stereocilia tips, and Ca2+ entry through open channels at row 2 tips retains BAIAP2L2 there
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BAIAP2L2 localization to stereocilia tips is dependent on the motor protein MYO15A and its cargo EPS8
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    overexpressed in endocrine tumors cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS