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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
Location 22q11.21      Physical location : 19.510.546 - 19.512.860
Synonym name
  • clostridium perfringens enterotoxin receptor-like,transmembrane protein
  • transmembrane protein deleted in VCFS
  • claudin 5
  • androgen withdrawal and apoptosis induced protein RVP1 (rat)-like
  • Synonym symbol(s) TMVCF, AWAL1, BEC1, CPETRL1, AWAL
    DNA
    TYPE functioning gene
    STRUCTURE 2.31 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D22S1613 - D22S1643 - D22S1619 - D22S1664 - D22S1618 - D22S1668 /CLDN5 - D22S945 - D22S1644 - D22S944 - D22S943 - D22S1637 - qter
    Authors (PMID: 9192844)
    Text see DGCR6
    regionally located DiGeorge region
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 2332 - 303 - 2008 18604199
    2 - 1730 23 218 - 2008 18604199
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselscapillary  highly
    Nervousbrain   highly
     nerve   highly
    Reproductivemale systemprostate  highly
    Respiratorylung   highly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningendothelium  
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text retinal pigment epithelium in development
    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