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FLASH GENE
Symbol CLDN14 contributors: npt/mct - updated : 16-01-2010
HGNC name claudin 14
HGNC id 2035
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four putative transmembrane segments
  • PMP-22/EMP/MP20/claudin domain
    • HOMOLOGY
    interspecies ortholog to murine Cldn14
    Homologene
    FAMILY
  • claudin family
    • CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
    basic FUNCTION
  • compartimentalizing endolymph and providing support for the auditory neuroepithelium
  • tight junction specific obliteration of the intercellular space
  • its ability to be recruited to these junctions is crucial for the hearing process
  • creating charge specific channels in the paracellular space
  • regulates paracellular permeability at epithelial tight junctions (Thorleifsson 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
  • major structural components of tight junction (TJ) strands
    • INTERACTION
    DNA
    RNA
    small molecule other,
  • palmitoylation of claudin-14 required for efficient localization into tight junctions
    • protein
  • binding specifically to the WW domain of Yes-associated protein YAP
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB29
    related resource Hereditary Hearing Loss Homepage
    Susceptibility to kidney stones
    Variant & Polymorphism SNP common, synonymous variants in the CLDN14 gene that associate with kidney stones (Thorleifsson 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS