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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
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