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FLASH GENE
Symbol OTOG contributors: mct - updated : 05-12-2012
HGNC name otogelin
HGNC id 8516
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