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FLASH GENE
Symbol CLDN14 contributors: npt/mct - updated : 16-01-2010
HGNC name claudin 14
HGNC id 2035
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 splicing 1958 25.7 239 - Wilcox, Wattenhofer, Van Itallie (2005)
  • variant 1 or alpha
  • exons 2 and 3
    • - splicing 1768 - 239 - Wattenhofer, Van Itallie (2005)
  • variant beta
  • exon 3
    • - splicing 1346 - 239 - Wattenhofer, Van Itallie (2005)
  • variant gamma
  • exons 4 and 5
    • 2 splicing 1233 - 239 - Wattenhofer, Van Itallie (2005)
  • variant epsilon
  • differing in the 5' UTR compared to variant 1
    • - splicing 1469 - 239 - Wattenhofer, Van Itallie (2005)
  • variant delta
  • exons 4 and 6
    		•
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Hearing/EquilibriumearinnercochleaCorti 
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell
    Hearing / Equilibriumstereocilia
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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