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FLASH GENE
Symbol CLDN19 contributors: mct/npt - updated : 16-01-2012
HGNC name claudin 19
HGNC id 2040
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four transmembrane segments
  • HOMOLOGY
    Homologene
    FAMILY
  • claudin family
  • CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
    basic FUNCTION
  • plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity
  • creating charge specific channels in the paracellular space
  • claudin isoform that is highly and specifically expressed in renal tubules with a putative role in tight junction homeostasis in renal physiology
  • tight junction integral membrane protein and key regulator of the paracellular pathway (Hou 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • major structural components of tight junction (TJ) strands
  • heteromeric CLDN16 and CLDN19 interaction required for assembling them into the tight junction structure and generating cation-selective paracellular channels (Hou 2009)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with CLDN16 and their association confers a tight junctions with cation selectivity, suggesting a mechanism for the role of mutant forms of CLDN16 and CLDN19 in the development of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (Hou 2008)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HHRO
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    and dyslocalization in polycystic kidneys
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS