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FLASH GENE
Symbol COCH contributors: mct - updated : 29-03-2023
HGNC name coagulation factor C homolog, cochlin (Limulus polyphemus)
HGNC id 2180
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal potential signal peptide
  • a region of limulus factor C homology (FCH or LCCL)
  • two von Willebrand factor type A-like domains separated by intervening domains
  • C-terminal von Willebrand type A domain of cochlin having affinity for type II collagen confirms earlier suggestions that cochlin might interact with this collagen and that such an interaction might play a crucial role in the structural homeostasis of the vestibule
    • conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    interspecies ortholog to murine Coch
    intraspecies homolog to VIT
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • in the extracellular matrix of cochlea
  • is secreted from small specialized regions of vestibular system epithelia, and cells of these regions secrete Cochlin both apically into the ear lumen and basally into the basal lamina
    • basic FUNCTION
  • may be involved in defense against bacteria infections
  • putative role in the architecture of cochlea by binding to components of the extracellular matrix of the sensory organ
  • constituting the major non-collagen component of the extra-cellular matrix of the inner ear
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
  • major component of the cochlear extracellular matrix
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other regulated by leukemia inhibitory factor (LIF) in the uterus at the time of embryo implantation
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA9 , DFNB110
    related resource Hereditary Hearing Loss Homepage
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    results in conductive hearing loss that protects against physiologic and molecular effects of noise trauma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS