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FLASH GENE
Symbol CLDN16 contributors: mct/ npt - updated : 16-01-2016
HGNC name claudin 16
HGNC id 2037
Corresponding disease
FHHNC familial hypomagnesemia, primary
Location 3q28      Physical location : 190.105.660 - 190.129.931
Synonym name
  • paracellin-1
  • hypomagnesemia 3, with hypercalciuria and nephrocalcinosis
    • Synonym symbol(s) PCLN1, CLDG, HOMG3
    DNA
    TYPE functioning gene
    STRUCTURE 22.49 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    MAPPING cloned Y linked Y status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1494 33.7 305 - Simon (1999)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
     kidneyHenle's loopascending thick limb   Homo sapiens
    Digestivesalivary gland    
    cells
    SystemCellPubmedSpeciesStageRna symbol
     epithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four transmembrane segments (4TM)
  • N and C intracytoplasmic termini
  • a C terminal consensus TRV-PDZ domain binding motif required for the association of the tight junction scaffolding protein ZO-1
    • HOMOLOGY
    interspecies homolog to murine Claudin16
    Homologene
    FAMILY
  • claudin family
    • CATEGORY adhesion , structural protein , transport
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
        intracellular
    intracellular,cytoplasm,organelle,lysosome
    text
  • located at the tight junction of the thick ascending limb of Henle
  • phosphorylated CLDN16 was localized in the tight junction (TJ) along with TJP1, whereas dephosphorylated form were translocated into the lysosome
    • basic FUNCTION
  • plays a central role in the reabsorption of divalent cations in renal epithelial cells of the thick ascending limb of Henle's loop
  • colocalizing with occludin, required for paracellular Mg2+ resorption
  • tight junction specific obliteration of the intercellular space
  • creating charge specific channels in the paracellular space
  • colocalised in the salivary excretory ducts with the tight junction proteins TJP1 and occludin suggesting a potential role in paracellular calcium and magnesium transport (Kriegs 2007)
  • modulating the ion selectivity of the tight junction by selectively and significantly increasing the permeability of Na+ (with no effects on Cl-) and generated a high permeability ratio of Na+ to Cl-
  • having a crucial role in the control of Mg2+ reabsorption in the kidney
  • implied in paracellular magnesium and calcium transport in the kidney (Kriegs 2007)
  • may plays a role beyond that of an initial metastasis repressor in this cancer type (Martin 2008)
  • tight junction integral membrane protein and key regulator of the paracellular pathway (Hou 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text magnesium ion transport
    PATHWAY
    metabolism
    signaling
    a component
  • heteromeric CLDN16 and CLDN19 interaction was required for assembling them into the tight junction structure and generating cation-selective paracellular channels (Hou 2009)
  • CLDN4 and CLDN16 may participate not in homodimers but in obligate heterodimers with selected other claudins
    • 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) FHHNC
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in breast cancer, particularly in patients with aggressive tumors and high mortality (Martin 2008)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • biomarker for thyroid cancer exhibiting differences in the correlation coefficients between benign and malignant samples that indicate its discriminatory power
    • Therapy target
    ANIMAL & CELL MODELS