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FLASH GENE
Symbol CLDN5 contributors: mct/npt/pgu - updated : 13-06-2013
HGNC name claudin 5 (transmembrane protein deleted in velocardiofacial syndrome)
HGNC id 2047
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • transmembrane protein four putative transmembrane segments
    • HOMOLOGY
    interspecies homolog to rattus ventral prostate protein
    Homologene
    FAMILY
  • claudin family
    • CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
    basic FUNCTION
  • major endothelial cell specific components of tight junction (TJ) strands regulating MMP14 during angiogenesis
  • tight junction specific obliteration of the intercelular space
  • creating charge specific channels in the paracellular space
  • classified as a tight-junctional protein capable of contributing to the "sealing" of the tight junction
  • increasing the airway tight junctional permeability (C
  • may participate in novel mechanisms in the pathway to end-stage heart failure
  • key determinant of trans-endothelial resistance at the blood-brain barrier
  • CDH5, NECTIN2, and CLDN5 are involved in the regulation of vascular permeability in a mutually interacting manner, which indicates their prominent role for the functionality of the human corpus luteum
    • CELLULAR PROCESS nucleotide, transcription
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text angiogenesis
    PATHWAY
    metabolism
    signaling
    a component
  • major structural components of tight junction (TJ) strands
  • component of tight junctions in endothelial cell layers
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • promoting activation of promatrix metalloproteinase-2 mediated by membrane type matrix metalloproteinases
  • regulating MMP14 and promoting angiogenesis
  • interacting with SOX18 (SOX18 involved in the regulation of CLDN5 gene expression in an endothelial-specific and cell density-dependent manner, play a nonredundant role in the formation of the endothelial barrier)
  • CLDN5 is a downstream target of ERG in endothelial cells (EC)
  • GNAI2 interacts with CLDN5 and association is correlated with TJ (tight junctions) integrity in brain endothelial cell line
  • KLF4 regulates blood-tumor barrier permeability via TJP1, OCLN and CLDN5
    • cell & other
    REGULATION
    activated by endothelial VE-cadherin (CDH5) at adherens junctions
    inhibited by VEGFA (that constitutes a significant mechanism in blood-brain barrier breakdown)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    to velocardiofacial syndrome
    constitutional     --low  
    in end-stage cardiomyopathy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS