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FLASH GENE
Symbol COCH contributors: mct - updated : 13-03-2007
HGNC name coagulation factor C homolog, cochlin (Limulus polyphemus)
HGNC id 2180
Corresponding disease
DFNA9 neurosensory deafness 9
Location 14q12      Physical location : 31.343.740 - 31.359.822
Synonym name cochlin
Synonym symbol(s) D14S564E, COCH-5B2, COCH5B2
DNA
TYPE functioning gene
STRUCTURE 16.08 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
CBPINP 14q12 CCNDBP1 interactor pseudogene KIAA1333 14q12 KIAA1333 C14orf163 14q12 chromosome 14 open reading frame 163 UBE2CP1 14 ubiquitin-conjugating enzyme E2C pseudogene 1 RPL12P5 14 ribosomal protein L12 pseudogene 5 RPL27P1 14 ribosomal protein L27 pseudogene 1 COCH 14q12-q13 coagulation factor C homolog, cochlin (Limulus polyphemus) STRN3 14q13-q21 striatin, calmodulin binding protein 3 AP4S1 14q12 adaptor-related protein complex 4, sigma 1 subunit HECTD1 14q12 HECT domain containing 1 NARSP 14 asparaginyl-tRNA synthetase pseudogene C14orf125 14 chromosome 14 open reading frame 125 ATP5GP4 14q12 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 4 LOC387979 14 similar to RIKEN cDNA D930036F22 gene LOC387980 14 LOC387980 C14orf126 14 chromosome 14 open reading frame 126 GPR33 14q12 G protein-coupled receptor 33, pseudogene C14orf127 14 chromosome 14 open reading frame 127 LOC387981 14 LOC387981 C14orf128 14 chromosome 14 open reading frame 128 ARHGAP5 14q11-q12 Rho GTPase activating protein 5
RNA
TRANSCRIPTS type messenger
text variants 1 and 2 encode the same protein
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 2882 59 550 - -
12 - 2558 - 550 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumcochlea cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text inner ear structure, cochlea vestibular structure, retina, speen and uterus
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
    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
    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
    related resource Hereditary Hearing Loss Homepage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS