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FLASH GENE
Symbol DSC2 contributors: mct - updated : 18-04-2020
HGNC name desmocollin 2
HGNC id 3036
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • five cadherin domains
  • five extracellular domains at the N-terminus, extracellular domain (ECD) with three disulfide bridges, four N-glycosylation sites, and four O-mannosylation sites (importance of N-glycosylation at multiple sites of DSC2 for efficient intracellular transport to the plasma membrane)
  • 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
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    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
  • desmosomal component, that is a key membrane glycoprotein critically involved in cell-cell adhesion and the maintenance of normal tissue architectures in epithelia
  • is involved in the transformation and development of esophageal tumors
  • 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
  • DSC2 may be involved in the regulation of the invasive behavior of cells by a mechanism that controls cell&
    • 8209;cell attachment and cytoskeleton rearrangement
  • essential for the unity of epithelial cells, and served as a vital regulator in signaling processes such as epithelial morphogenesis, differentiation, wound healing
  • epithelial DSC2 is a key contributor to intestinal mucosal wound healing
    • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of intercellular desmosome junctions
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • LEF1 acts as a switch activating DSC2 and repressing DSC3 in the presence of JUP
  • juxtamembrane region of DSC2 and PKP2, PKP3 are involved in the desmosomal plaque formation, possibly through the interaction between this region and plakophilins
  • PKP3 increases desmosome assembly, size and stability by increasing expression of DSC2
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARVD10
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in oesophageal squamous cell carcinoma (ESCC), and is associated with enhanced tumour metastasis and poor prognosisv
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • DSC2 is a useful immunohistochemical marker for separation of UC with squamous differentiation from pure Urothelial carcinoma (UC)
  • DSC2 expression level was an independent prognostic factor for esophageal squamous cell carcinoma
    • Therapy target
    ANIMAL & CELL MODELS