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FLASH GENE
Symbol CLDN19 contributors: mct/npt - updated : 16-01-2012
HGNC name claudin 19
HGNC id 2040
DNA
TYPE functioning gene
STRUCTURE 7.16 kb     5 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 2859 23 224 - Lee (2006)
4 - 3602 22 211 - Lee (2006)
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousnervecranial nerve   
UrinarykidneytubuleHenles loopHL ascending limbhighly Homo sapiens
Visualeyeretina   
cell lineage
cell lines
fluid/secretion
at STAGE
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