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FLASH GENE
Symbol OTOG contributors: mct - updated : 05-12-2012
HGNC name otogelin
HGNC id 8516
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart     Homo sapiensOTOGmRNA
Hearing/Equilibriumearinner    Mus musculus
Reproductivemale systemtestis    Homo sapiensOTOGmRNA
Visualeyeretina  predominantly Homo sapiensOTOGmRNA
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text highest in fetal inner ear, followed by kidney, lung, spleen, thymus, and liver
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N-terminal 22 AA signal peptide
  • an EGF-like domain
  • four VWFD domains
  • a TIL (trypsin inhibitory-like) domain
  • a CTCK (C-terminal cystine knot-like) domain
  • a central threonine/serine/proline-rich (TSP) region flanked by vWF-like cysteine-rich domains
  • a C-terminal knot motif domain
    • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to rattus Otog (82.6 pc)
    ortholog to murine Otog (83.1 pc)
    Homologene
    FAMILY
  • otogelin family
    • CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    text
  • apical plasma membrane
  • proteinaceous extracellular matrix
  • extracellular side
    • basic FUNCTION
  • may be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea
  • requirement in the attachment of the otoconial membranes and cupulae to their corresponding sensory epithelia
  • may be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule
  • may play a role in mechanotransduction processes
  • acting as an alpha-N-arabinofuranosidase
  • acting as a protease inhibitor
  • functions of OTOGL and OTOG are highly likely to be at least partially noncompensatory, as mutations in each of the corresponding genes can cause hearing loss
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • the acellular membrane covering the six sensory epithelial patches of the inner ear
  • component of the tectorial membrane
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB18A , DFNB18B
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • being a possible candidate gene for a human nonsyndromic form of deafness
    • Marker
    Therapy target
    ANIMAL & CELL MODELS