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FLASH GENE
Symbol CLDN14 contributors: npt/mct - updated : 16-01-2010
HGNC name claudin 14
HGNC id 2035
Corresponding disease
DFNB29 neurosensory deafness 29
Location 21q22.13      Physical location : 37.832.919 - 37.948.867
Synonym name clostridium perfringens enterotoxin receptor-like
Synonym symbol(s) DFNB29
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
STRUCTURE 19.47 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - D21S1445 - D21S1920 - D21S2074 - D21S1895 - D21S1921 - D21S2075 - D21S2076 - [D21S2017 - D21S2078 - D21S1252 - CLDN14 - D21S2079 - D21S2080 ] - D21S2081 - D21S167 - D21S267 - qter
Authors Wilcox (01)
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