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FLASH GENE
Symbol MYOC contributors: shn - updated : 18-04-2012
HGNC name myocilin, trabecular meshwork inducible glucocorticoid response
HGNC id 7610
DNA
TYPE functioning gene
SPECIAL FEATURE
text
  • 15q22-q24, a new genomic location decribed by Wang DY, et al
  • STRUCTURE 17.22 kb     3 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   hormone   HRE
    text structure 13 predicted HRE
    MAPPING cloned Y linked N status confirmed
    Map cen - D1S452 - D1S210 - MYOC - D1S1619 - D1S1165 - qter
    RNA
    TRANSCRIPTS type messenger
    text
  • a 1.2 kb prominent transcript in ocular tissues resulting of an internal deletion of 338 bp, which removes the entire leucine-zipper region from the wt myocilin, specifically expressed in occular tissues (PMID:11738824)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2061 55 504 - 2006 16289162
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Digestiveintestinesmall intestine  highly Homo sapiens
     intestinelarge intestinecolon moderately Homo sapiens
     stomach   moderately Homo sapiens
    Endocrinethyroid   moderately Homo sapiens
    Lymphoid/Immunethymus   moderately Homo sapiens
    Reproductivemale systemprostate  moderately Homo sapiens
     male systemtestis  lowly Homo sapiens
    Respiratoryrespiratory tracttrachea  highly Homo sapiens
    Visualeyesclera  highly Homo sapiens
     eyeanterior segmentiris highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  moderately Homo sapiens
    Epithelialbarrier liningretinal pigment epithelium (RPE) highly Homo sapiens
    Epithelialsensoryolfactory moderately
    Muscularstriatumskeletal lowly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell
    Nervousastrocyte
    Visualcone photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text trabecular meshwork cells of both glaucomatous and non glaucomatous eyes
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain of myocilin (without the olfactomedin domain) is essential for interaction with SNTA1
  • leucine zipper motif and olfactomedin homology domain
  • myosin-like domain
  • multiple post-translational forms : cellular (55kDa) and secreted 55/66kDa
  • ten putative phosphorylation sites
  • four glycosylation sites
  • conjugated GlycoP
    mono polymer dimer
    HOMOLOGY
    interspecies ortholog to MYOC, Pan troglodytes
    ortholog to myoc, Danio rerio
    ortholog to Myoc, Mus musculus
    ortholog to Myoc, Rattus norvegicus
    Homologene
    FAMILY
  • ezrin, radixin, maesin family
  • CATEGORY chaperone/stress , secretory , structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytoskeleton,microtubule
    text connecting cilium of the photoreceptor (
    basic FUNCTION
  • involved in the morphogenesis of ciliated neuroepithelium such as photoreceptor cells (
  • may have a role(s) in regulating intraocular pressure (
  • major organizing center of the ciliated epithelium
  • displays general molecular chaperone activity (
  • is one of the regulators of muscle hypertrophy pathways
  • is a regulator of muscle hypertrophy/atrophy pathways and the stabilization of dystrophin-associated protein complex (DAPC) and increased interaction with laminin may contribute to this regulation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • protein constituent of cytoskeleton
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • fibronectin and Hep II (
  • myosin motor protein and myosin regulatory light chain (
  • fibronectin and fibrillin-1 (
  • Optimedin (
  • glyceraldehyde-3-phosphate dehydrogenase, GAPDH (
  • MYOC interacts with SNTA1, a cytoplasmic component of the DAPC, that serves as a scaffolding adapter
  • cell & other
    REGULATION
    induced by trabecular meshwork-induced glucocorticoid response protein
    ASSOCIATED DISORDERS
    corresponding disease(s) GLC1A
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in skeletal muscles led to muscle hypertrophy
    Susceptibility
  • pigment dispersion syndrome (one patient)
  • mixed-mechanism glaucoma
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mouse heterozygous and homozygous for a targeted null mutation in Myoc gene are both viable and fertile, and Myoc is not required for normal intraocular pressure or normal ocular morphology (
  • lenses of transgenic mice expressing the Human mutated Tyr437His myocilin developed nuclear cataracts, completely lost transparency, and eventually ruptured (
  • Expression of human myocilin glaucomatous mutations in mouse eyes causes elevated intraocular pressure, which is a major phenotype of MYOC glaucoma (
  • increased skeletal muscle mass in myocilin-expressing transgenic mice compared with wild-type mice