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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)
Physical map
RPL34P3 21q22.12 ribosomal protein L34 pseudogene 3 LOC266693 21q22.2 enhancer of zeste homolog 2 (Drosophila) pseudogene RPS20P1 21q22.12 ribosomal protein S20, pseudogene 1 PPP1R2P2 21q22.13 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 2 RPL23AP3 21q22.2 ribosomal protein L23a pseudogene 3 C21orf18 21q22.13 chromosome 21 open reading frame 18 RIMKLP 21q22.13 ribosomal modification protein rimK-like (E. coli) pseudogene CBR1 21q22.2 carbonyl reductase 1 LOC388822 21 similar to Protein CGI-27 (C21orf19-like protein) LOC391280 21 similar to ribosomal protein S9 CBR3 21q22.2 carbonyl reductase 3 C21orf5 21q22.2 chromosome 21 open reading frame 5 RPL3P1 21q22.2 ribosomal protein L3 pseudogene 1 ZCWCC3 21q22.13 zinc finger, CW-type with coiled-coil domain 3 CHAF1B 21q22.2 chromatin assembly factor 1, subunit B (p60) CLDN14 21q22.3 claudin 14 PSMD15 21q22.13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 15 LOC388823 21 LOC388823 SIM2 21q22.2 single-minded homolog 2 (Drosophila) HLCS 21q22.2 holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase) MRPL20P1 21q22.2 holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase) DSCR6 21q22.2 Down syndrome critical region gene 6 DSCR5 21q22.2 Down syndrome critical region gene 5 TTC3 21q22.2 tetratricopeptide repeat domain 3 DSCR9 21q22.13 Down syndrome critical region gene 9 DSCR3 21q22.3 Down syndrome critical region gene 3
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