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FLASH GENE
Symbol DSG3 contributors: mct - updated : 22-08-2014
HGNC name desmoglein 3 (pemphigus vulgaris antigen)
HGNC id 3050
Location 18q12.1      Physical location : 29.027.731 - 29.058.663
Synonym name
  • pemphigus vulgaris and herpetiform pemphigus, autoantigen
  • 130 kDa pemphigus vulgaris antigen
  • Synonym symbol(s) PVA, CDHF6, DKFZp686P23184
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text clustered with DSC1, DSC2, DSC3 and desmogleins DSG1, DSG2
    STRUCTURE 30.93 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see DSG1 ,TTR
    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
    regionally located clustered with DSG1, DGS2 and desmocollins DSC1, DSC2, DSC3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 5561 - 999 - 2008 18343367
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus    
     mouth    
     pharynx    
    Respiratoryrespiratory tractlarynx   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningepidermisstratum basale 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an intracellular anchor (IA) region, necessary for complex formation with CTNND1, and to maintain free DSG3 at the cell surface before it is integrated into desmosomes
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • cadherin superfamily of calcium dependent cell-adhesion molecule
  • CATEGORY adhesion , antigen
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,desmosome
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • required for cell adhesion and desmosome formation
  • critical for development of the epidermis and physiologic terminal differentiation of keratinocytes
  • DSG2 is less important than DSG3 for keratinocyte cohesion
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of desmosome
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • associates wirh CTNND1, through the membrane proximal region (corresponding to AAs 641-714) in the intracellular anchor (IA) region of DSG3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    in Pemphigus vulgaris, autoantibodies generated target the desmosomal cadherin desmoglein-3 (DSG3)
    tumoral     --over  
    in head neck cancer
    Susceptibility to pemphigus vulgaris (PV) and herpetiform pemphigus, (autoantigen)
    Variant & Polymorphism other genetic variation may be an additive risk factor predisposing to PV
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhead and neck 
    target in the development of adjuvant therapy for head neck cancer
    ANIMAL & CELL MODELS