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FLASH GENE
Symbol DSC2 contributors: mct - updated : 09-11-2010
HGNC name desmocollin 2
HGNC id 3036
Corresponding disease
ARVD10 arrhythmogenic right ventricular dysplasia, famililal, 10
Location 18q12.1      Physical location : 28.645.943 - 28.682.388
Synonym name
  • desmosomal glycoprotein
  • cadherin family member 2
  • desmosomal glycoprotein II/III
  • Synonym symbol(s) DSC3, CDHF2, DG2, DGII/III, DKFZp686I11137
    EC.number 2.7.1.37
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text clustered with DSC1, DSC3 and desmogleins DSG1, DSG2, DSG3
    STRUCTURE 36.45 kb     17 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
    regionally located clustered with DSC1, DSC3 and desmogleins DSG1, DSG2, DSG3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 splicing 5211 120 901 - 1991 2037591
    also called DSC2a
    17 splicing 5257 100 847 - 1991 2037591
  • also called DSC2b
  • inclusion of a 46bp exon containing an in frame stop codon
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveintestinelarge intestinecolon highly Homo sapiens
    Lymphoid/Immunelymph node   moderately
    Respiratoryrespiratory tractlarynx  highly
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermis  
    Muscularstriatumcardiacmyocardium 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveepithelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • five cadherin domains
  • five extracellular domains at the amino terminus
  • a single transmembrane-spanning domain
  • a cytoplasmic tail at the carboxy terminus
  • conjugated GlycoP
    HOMOLOGY
    intraspecies homolog to desmoglein
    Homologene
    FAMILY
  • cadherin superfamily of calcium dependent cell-adhesion molecule (intercellular) adhesion molecule
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,desmosome
    basic FUNCTION
  • required for cell adhesion and desmosome formation
  • involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion
  • may contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms
  • playing a crucial role for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function
  • play a critical role in the maintenance of tissue integrity in epithelia and cardiac muscle
  • DSG2 and DSC2 both exhibit microtubule-dependent transport in epithelial cells but use distinct motors to traffic to the plasma membrane
  • DSG2 and DSC2 play opposing roles in controlling colonic carcinoma cell proliferation through differential effects on EGFR signaling
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of intercellular desmosome junctions
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARVD10
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS