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FLASH GENE
Symbol DSG4 contributors: mct/npt - updated : 07-07-2008
HGNC name desmoglein 4
HGNC id 21307
Corresponding disease
LAH1 hypotrichosis, localized 1
Location 18q12.1      Physical location : 28.956.739 - 28.993.880
Synonym name
  • CDH family member 13
  • cadherin family member 13
    • Synonym symbol(s) CDGF13, CDHF13
    DNA
    TYPE functioning gene
    STRUCTURE 37.14 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    DSC3 18q12.1 desmocollin 3 DSC2 18q12.1 desmocollin 2 DSC1 18q12.2 desmocollin 1 DSG1 18q12.1 desmoglein 1 DSG4 18q12.1 desmoglein 4 DSG3 18q12.1 desmoglein 3 (pemphigus vulgaris antigen) DSG2 18q12.1 desmoglein 2 TTR 18q12.1-q12.2 transthyretin (prealbumin, amyloidosis type I) B4GALT6 18q11 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 LOC390845 18 similar to KIAA0563-related gene LOC390846 18 similar to 27 kDa Golgi SNARE protein (Golgi SNAP receptor complex member 2) (Membrin) MCART2 18q12.1 mitochondrial carrier triple repeat 2 KIAA1012 18q11.2 mitochondrial carrier triple repeat 2 LOC342705 18q12.1 similar to 6-phosphogluconate dehydrogenase, decarboxylating LOC390847 18 similar to epsin 2 isoform a; Eps15 binding protein RNF125 18q12.1 ring finger protein 125 LOC390848 18 similar to 40S ribosomal protein S15a RNF138 18q12.1 ring finger protein 138 MEP1B 18q12.2-q12.3 meprin A, beta FLJ21610 KIAA1384 18q12.1 KIAA1384 protein LOC374864 18q12.1 hypothetical protein LOC374864
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 3637 - 1059 - -
    16 - 3580 113.8 1040 - Wajid (2007)
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemprostate   
     male systemtestis   
    Skin/Tegumentskin appendageshairfollicle  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningepidermisstratum spinosum 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four cadherin domains
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Dsg4
    homolog to rattus dsg4
    Homologene
    FAMILY
  • cadherin family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • involved in homophilic cell adhesion
  • key mediator of keratinocyte cell-adhesion in the hair follicle
    • CELLULAR PROCESS cell life
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+ ion binding
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LAH1
    Susceptibility to pemphigus vulgaris
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS