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FLASH GENE
Symbol CLDN12 contributors: npt/mct - updated : 16-01-2010
HGNC name claudin 12
HGNC id 2034
Location 7q21      Physical location : 90.032.711 - 90.045.266
Synonym name clostridium perfringens enterotoxin receptor
DNA
TYPE functioning gene
STRUCTURE 12.47 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 3493 27 244 - Fujita (2008)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon moderately
 mouth   highly
Hearing/Equilibriumearinnercochlea highly
 earinnercochlea  
Respiratoryrespiratory tracttrachea  predominantly
Urinarybladder   moderately
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumcochlea cell
Hearing / Equilibriumepithelial cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four putative transmembrane segments
  • HOMOLOGY
    interspecies homolog to chimpanzee CLDN12 (100pc)
    homolog to murine Cldn12 (91.4pc)
    Homologene
    FAMILY
  • claudin family
  • CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
    basic FUNCTION
  • playing a major role in tight junction-specific obliteration of the intercelular space, through calcium-independent cell-adhesion activity
  • creating charge specific channels in the paracellular space
  • critical role for vitamin D-dependent Ca2+ absorption between enterocytes (Fujita 2008)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • major structural components of tight junction (TJ) strands
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in colorectal cancer (Groene 2007)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS