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FLASH GENE
Symbol CDSN contributors: mct - updated : 26-08-2010
HGNC name corneodesmosin
HGNC id 1802
DNA
TYPE functioning gene
STRUCTURE 5.35 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map pter - HLA-E - [CDSN - TCF19 - POU5F1 ] - HLA-C - HLA-B - cen
Authors Zhou (93), Ahnini (99), Nail (00)
Text [RH1 ] : Identified Risk Haplotype 1 interval (60 kb), highly likely to carry the disease allele at PSORS1
Physical map
C6orf134 6p21.32 chromosome 6 open reading frame 134 C6orf136 6p21.32 chromosome 6 open reading frame 136 DHX16 6p21.3 DEAH (Asp-Glu-Ala-His) box polypeptide 16 KIAA1949 6p21.3 KIAA1949 protein NRM 6p21.31 nurim (nuclear envelope membrane protein) MDC1 6pter-p21.3 mediator of DNA damage checkpoint 1 OK/SW-cl.56 6p21.32 beta 5-tubulin FLOT1 6p21.3 flotillin 1 IER3 6p21.3 immediate early response 3 DDR1 6p21.3 discoidin domain receptor family, member 1 VARS2L 6p21.33 valyl-tRNA synthetase 2-like GTF2H4 6p21.3 general transcription factor IIH, polypeptide 4, 52kDa LOC389376 6 similar to GSGL541 DPCR1 6p21.32 similar to GSGL541 LOC389377 6 similar to KMQK697 C6orf15 6p21.3 chromosome 6 open reading frame 15 PSORS1C1 6p21.3 psoriasis susceptibility 1 candidate 1 CDSN 6p21.3 corneodesmosin PSORS1C2 6p21.3 psoriasis susceptibility 1 candidate 2 C6orf18 6p21.3 chromosome 6 open reading frame 18 TCF19 6p21.3 transcription factor 19 (SC1) POU5F1 6p21.31 POU domain, class 5, transcription factor 1 LOC253018 6p21.32 hypothetical protein LOC253018 LOC391911 6 similar to HLA-B-associated transcript 1A; HLA-B associated transcript 1A; HLA-B associated transcript 1; Nuclear RNA helicase HLA-C 6p21.3 major histocompatibility complex, class I, C HLA-B 6p21.3 major histocompatibility complex, class I, B MICA 6p21.3 MHC class I polypeptide-related sequence A
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 2583 51.6 529 - Jonca (2002)
EXPRESSION
Type
   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 corneumhighly
Epithelialbarrier/liningepidermisstratum granulosum 
cells
SystemCellPubmedSpeciesStageRna symbol
Skin/Tegumentcornified cell
Skin/Tegumenthair follicle cell
Skin/Tegumentkeratinocyte
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, pregnancy
Text late during keratinocyte differentiation
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal adhesive Gly/Ser-rich domain (GS domain) folded to form glycine loops described in cytokeratin loricrin
  • proline-rich domain
  • conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to murine Cdsn
    intraspecies homolog to loricrin,keratin 1 and 10
    Homologene
    FAMILY
    CATEGORY adhesion , secretory , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,desmosome
    text
  • corneo desmosome
  • located in the upper most living layers and in related structures of the cornified layers
  • basic FUNCTION
  • playing an important role in corneocyte cohesion
  • mediating homophilic adhesive function, major event in the process of desquamation
  • involved in growth and maintenance of the scalp hair
  • not essential for skin-barrier formation in utero, but is vital throughout life to preserve this barrier by maintaining desmosome integrity (Leclerc 2009)
  • phosphorylated basic keratinocyte adhesion glycoprotein located in the extracellular part of the desmosomes and corneodesmosomes at the transition from the stratum granulosum (SG) to the stratum corneum (SC) and in the inner root sheath of the hair follicle (Oji 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HTSS1 , PSS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    reduced degradation of all corneodesmosomal proteins in psoriatic lesions which probably reflects the persistence of corneodesmosomes (Simon 2008)
    Susceptibility psoriasis (PSORS1)
    Variant & Polymorphism other
  • allele 971T confering psoriasis susceptibility
  • rare allele (+1243)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Cdsn-deficient mouse skin showed detachment of the stratum corneum from the underlying granular layer and/or detachment within the upper granular layers due to the disrupted integrity of the corneodesmosomes (Matsumoto 2008)