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Symbol MYO7A contributors: shn - updated : 21-06-2016
HGNC name myosin VIIA
HGNC id 7606
Corresponding disease
DFNA11 neurosensory deafness 11
DFNB2 neurosensory deafness 2
USH1B Usher syndrome, type IB
Location 11q13.5      Physical location : 76.839.309 - 76.926.286
Synonym name myosin VIIA, unconventional, apparently non filamentous
Synonym symbol(s) USH1B, DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, HM7A
TYPE functioning gene
STRUCTURE 86.00 kb     49 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D11S1321 - D11S4179 - MYO7A - D11S4186 - D11S1789 - qter
TRANSCRIPTS type messenger
text a strong enhancer in the intron 1 is sufficient to target the expression of MYO7A gene exclusively in sensory cells of the inner ear
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
49 splicing 7465 - 2215 inner and base of outer segments and synaptic ending region of photoreceptor cells 1996 8842737
transcript variant 1
27 splicing 4079 - 1178 inner and base of outer segments and synaptic ending region of photoreceptor cells 1996 8842737
transcript variant 3
49 splicing 7339 - 2175 inner and base of outer segments and synaptic ending region of photoreceptor cells 1996 8842737
transcript variant 2
Type widely
   expressed in (based on citations)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea   Homo sapiens
Nervousnerve   highly
Reproductivefemale systemplacenta  highly
 male systemtestis    Homo sapiens
Respiratorylung     Homo sapiens
Urinarykidney     Homo sapiens
Visualeyeretina  highly Homo sapiens
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
Epithelialbarrier liningretinal pigment epithelium (RPE) highly Homo sapiens
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumcochlea cell Homo sapiens
Hearing / Equilibriumhair cell receptor Homo sapiens
Hearing / Equilibriumstereocilia Homo sapiens
Visualcone photoreceptor Homo sapiens
cell lineage
cell lines primary cultures of human and mouse RPE
physiological period embryo
Text developing sensory epithelia, cochlear and vestibular neuroepithelia, retinal pigment epithelium and photoreceptor cells
  • N terminal motor head domain containing ATP and actin-binding sites
  • a neck containing five IQ calmodulin or calmodulin-like light chain binding domains
  • a tail containing a coiled-coil region, two myosin IV like
  • two C terminal talin-like domains (FERM, EPB41-ezrin-radixin-moesin), involved in the linkage of cytoplasmic proteins to the membrane, FERM domain binding to a novel transmembrane protein VEZT
  • a putative SH3 domain
    interspecies ortholog to Myo7a, Mus musculus
    ortholog to drosophila Crickled
    ortholog to Myo7a, Rattus norvegicus
    ortholog to myo7a, Danio rerio
    ortholog to MYO7A, Pan troglodytes
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
  • Myosin VIIa and USH1G localization at stereocilia upper tip-link density
  • basic FUNCTION
  • might play a role in the trafficking of ribbon-synaptic vesicle complexes and the renewal processes of the outer photoreceptor disks
  • mediating the transport of membrane cargo along actin filaments in the membrane of photoreceptor cilia
  • putative protein kinase A (PRKAR1A)-anchoring protein that targets PRKA to subcellular sites of sensory cells
  • can have a dual function in the connecting cilium : after the fusion of membranous vesicles with the apical surface of the inner segment discussed above, the membrane incorporated cargo translocates in the ciliary membrane to the outer segment
  • anchored by vezatin to the cadherin-catenins complex, creates a tension force between adherens junctions and the actin cytoskeleton that is expected to strengthen cell-cell adhesion
  • opsin transport through the photoreceptor cilium
  • RAB27A, MYRIP and MYO7A bridges retinal melanosomes to the actin cytoskeleton and thereby mediates the local trafficking of these organelles
  • essential to ensure the cohesion of the stereocilia
  • required for the normal processing of ingested disk membranes in the RPE, primarily in the basal transport of phagosomes into the cell body where they then fuse with lysosomes
  • required for the normal transport of opsin through the ciliary plasma membrane to the outer segment, and, in the RPE, it functions in the movement of melanosomes and phagosomes
  • required for hair bundle growth
  • plays a role in the positioning of melanosomes and other digestion organelles in the retinal pigment epithelium
  • role for MYO7A in the translocation of RPE65, illustrating the involvement of a molecular motor in the spatiotemporal organization of the retinoid cycle in vision
  • functions by mediating light-dependent translocation of RPE65
  • MYO7A, USH1G, and USH1C form the core components of the stereocilia upper tip-link density molecular complex
  • MYO7A functions as a selective barrier for membrane proteins at the distal end of the transition zone
  • USH1G, MYO7A, USH1C, CDH23, PCDH15 form an adhesion belt around the basolateral region of the photoreceptor outer segment, and defects in this structure cause the retinal degeneration in USH1 patients
  • can likely transport its cargo molecules, such as USH1 proteins, upon release of the tail-dependent inhibition
  • MYO7A regulate caspases in their signalling roles
  • MYO7A movement appears to be suitable for translocating USH1 proteins on stereocilia actin bundles in inner-ear hair cells
    signaling sensory transduction/hearing , sensory transduction/vision
    a component
  • with harmonin (USH1C) and CDH23 can form a ternary complex, which suggests that myosin VIIa applies tension forces on hair bundle links
  • MYO7A, USH1G, and the upper tip-link density protein USH1C form a tripartite complex and that each protein is capable of interacting with one another independently
  • MYO7A forms a complex with PDZD7, a paralog of USH1C and WHRN
    small molecule
  • adherens junctions transmembrane protein vezatin, VEZT
  • type I alpha regulatory subunit (RI alpha) of protein kinase A, PRKAR1A
  • calmodulin, CaM and microtubule-associated protein-2B, MAP-2B
  • associated with specialized adhesion plaques termed ectoplasmic specializations (ES) that form between Sertoli cells and germ cells in testis
  • synaptotagmin-like protein homologue lacking C2 domains-c, Slac2-c
  • myosin VIIA and Rab interacting protein, MYRIP
  • kelch-like ECH-associated protein 1, KEAP1
  • harmonin b
  • MYRIP mediates cellular activation of MYO5A and MYO7A via non-overlapping domains
  • with harmonin and CDH23 bind to phosphorylated forms of phosphatidylinositol including phosphatidylinositol 4,5-bisphosphate
  • whirlin, WHRN (
  • associated with cathepsin D- and Rab7-positive lysosomes
  • MYO7A and RPE65 appear to be associated with each other, suggesting that MYO7A functions in the localization of the visual cycle enzyme
  • CNGA3 interacts with stereocilia tip-link CDH23 + exon 68 or alternatively with MYO7A, two proteins required for hair cell mechanotransduction
  • MYO7A interacts with ITGB5 and selectively promotes integrin ITGAB5-mediated cell migration
  • MYRIP accumulates granules in the cortical F-actin network not by direct interaction with MYO5A, but by indirect interaction with a specific form of MYO7A through its previously unknown binding partner, RIMBP2 (28673385)
  • cell & other
    corresponding disease(s) DFNB2 , USH1B , DFNA11
    related resource Hereditary Hearing Loss Homepage
    Hereditary Hearing Loss Homepage
    Variant & Polymorphism
    Candidate gene
    Therapy target shaker1 RPE in preclinical studies on therapies for Usher syndrome 1B do not undergo retinal degeneration and may be a valid preclinical test for potential therapeutic treatments
  • Myo7a mutant mice (shaker1) show hyperactivity, head-tossing and circling due to vestibular dysfunction, together with typical neuroepithelial-type cochlear defects involving dysfunction and progressive degeneration of the organ of Corti
  • shaker-1 mice display defective melanosome distribution in the retinal pigment epithelium
  • zebrafish defective in myosin VIIA (circler mutant mariner) display morphological and functional defects that are similar to those present in mouse shaker-1: defects specific to sensory hair cell function
  • Myo7a null mice display abnormal phagocytosis of photoreceptor outer segment disks by the retinal pigment epithelium (RPE)