Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol DSC3 contributors: mct - updated : 21-10-2009
HGNC name desmocollin 3
HGNC id 3037
Corresponding disease
HTSV hypotrichosis and skin vesicles
Location 18q12.1      Physical location : 28.570.052 - 28.622.781
Synonym name
  • desmosomal glycoprotein 3
  • desmocollin 4
  • cadherin family member 3
  • Synonym symbol(s) CDHF3, DSC, DSC1, DSC2, DSC4, HT-CP
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text clustered with DSC1, DSC2 and desmogleins DSG1, DSG2, DSG3
    STRUCTURE 52.73 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see 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 DSC1, DSC2 and desmogleins DSG1, DSG2, DSG3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 6935 100 896 - 1995 7665906
    17 - 6978 - 839 - 1995 7665906
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermisstratum basale 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a number of domains, including a signal sequence (AAs 127)
  • a propeptide (28135 AAs)
  • an extracellular domain (136690 AAs), divided into five cadherin domains
  • a transmembrane domain (691711 AAs)
  • a C-terminal cytoplasmic domain (712896 AAs)
  • conjugated GlycoP
    HOMOLOGY
    intraspecies homolog to desmoglein DGII/DGIII
    Homologene
    FAMILY
  • cadherin superfamily of calcium dependent cell-adhesion molecule
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,desmosome
    basic FUNCTION
  • required for cell adhesion and desmosome formation
  • play a critical role in the maintenance of tissue integrity in epithelia and cardiac muscle
  • playing a role in normal function of desmosomes, maintenance of structural integrity of the interfollicular epidermis, and anchorage of the telogen hair shaft
  • DSC3-mediated binding is also crucial for cohesion of human epidermis
  • DSC3 homo- and heterophilic binding is required for maintenance of keratinocyte cohesion and interference with DSC3 binding may contribute to skin blistering in pemphigus
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of desmosome
  • INTERACTION
    DNA
    RNA
    small molecule
    protein displayed heterophilic interaction with DSG1 but not with DSG3
    cell & other
    REGULATION
    activated by C/EBPbeta but not C/EBPalpha (differentially regulated by C/EBP (CCAAT/enhancer-binding protein) family members)
    ASSOCIATED DISORDERS
    corresponding disease(s) HTSV
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    is a common event in primary breast tumor specimens, and gene silencing in breast tumors is frequently linked to aberrant cytosine methylation and concomitant changes in chromatin structure
    tumoral     --other  
    de novo expression in colorectal cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS