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CDSN Gene

protein-coding   GIFtS: 54
GCID: GC06M031082

Corneodesmosin

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
corneodesmosin1 2     HTSS2
HTSS12 5     S2
PSS2 5     Differentiated Keratinocyte S Protein2
D6S586E2     S Protein3

External Ids:    HGNC: 18021   Entrez Gene: 10412   Ensembl: ENSG000002045397   OMIM: 6025935   UniProtKB: Q155173   

Export aliases for CDSN gene to outside databases

Previous GC identifers: GC06M031139 GC06M030854 GC06M031189 GC06M031191


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CDSN Gene:
This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified
squamous epithelia. During maturation of the cornified layers, the protein undergoes a series of cleavages, which
are thought to be required for desquamation. The gene is located in the major histocompatibility complex (MHC)
class I region on chromosome 6. (provided by RefSeq, Jul 2008)

GeneCards Summary for CDSN Gene:
CDSN (corneodesmosin) is a protein-coding gene. Diseases associated with CDSN include hypotrichosis 2, and guttate psoriasis. GO annotations related to this gene include protein homodimerization activity.

UniProtKB/Swiss-Prot: CDSN_HUMAN, Q15517
Function: Important for the epidermal barrier integrity

Gene Wiki entry for CDSN (Corneodesmosin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  NT_113891.3  NT_167245.2  NT_167246.2  NT_167247.2  NT_167248.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CDSN gene promoter:
         Max   MyoD   MIF-1   ITF-2   TGIF   Tal-1beta   E47   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDSN promoter sequence
   Search Chromatin IP Primers for CDSN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDSN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

CDSN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDSN gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M031082:  view genomic region     (about GC identifiers)

Start:
31,082,865 bp from pter      End:
31,088,252 bp from pter
Size:
5,388 bases      Orientation:
minus strand

5 alternative locations:
Chr6-,NT_167247 2,464,790-2,470,173      Chr6-,NT_167246 2,431,222-2,436,605      Chr6-,NT_167248 2,378,683-2,384,073     
Chr6-,NT_167245 2,380,037-2,385,420      Chr6-,NT_113891.2 2,597,569-2,602,957     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CDSN_HUMAN, Q15517 (See protein sequence)
Recommended Name: Corneodesmosin precursor  
Size: 529 amino acids; 51522 Da
Sequence caution: Sequence=AAA21321.1; Type=Frameshift; Positions=501; Sequence=BAB63316.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=BAC54948.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: B0S7V2 B0UYZ7 O43509 Q5SQ85 Q5STD2 Q7LA70 Q7LA71 Q86Z04 Q8IZU4 Q8IZU5
Q8IZU6 Q8N5P3 Q95IF9 Q9NP52 Q9NPE0 Q9NPG5 Q9NRH4 Q9NRH5 Q9NRH6 Q9NRH7 Q9NRH8 Q9UBH8 Q9UIN6
Q9UIN7 Q9UIN8 Q9UIN9 Q9UIP0

Explore the universe of human proteins at neXtProt for CDSN: NX_Q15517

Explore proteomics data for CDSN at MOPED

Post-translational modifications: 

  • Glycosylation2 at Thr37, Thr49, Asn172, Thr325
  • Modification sites at PhosphoSitePlus

  • See CDSN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001255.3  
    ENSEMBL proteins: 
     ENSP00000365465  

    CDSN Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CDSN (Corneodesmosin)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for CDSN
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CDSN
    GenScript Custom Purified and Recombinant Proteins Services for CDSN
    Novus Biologicals CDSN Proteins
    Novus Biologicals CDSN Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CDSN

    CDSN Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for CDSN (Corneodesmosin)
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    Abcam antibodies for CDSN
    Cloud-Clone Corp. Antibodies for CDSN
    Search ThermoFisher Antibodies for CDSN
    LSBio Antibodies in human, mouse, rat for CDSN

    CDSN Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CDSN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CDSN
    Cloud-Clone Corp. CLIAs for CDSN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026087 Corneodesmosin

    Graphical View of Domain Structure for InterPro Entry Q15517

    ProtoNet protein and cluster: Q15517


    CDSN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CDSN_HUMAN, Q15517
    Function: Important for the epidermal barrier integrity

         Genatlas biochemistry entry for CDSN:
    corneodesmosin,expressed late during keratinocyte differentiation,major event in the process of
    desquamation,located in the upper living layers and in related structures of the cornified layers,the
    corneodesmosomes with the rarer allele (+1243) strongly associated to psoriasis susceptibility (PSORS1)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042803protein homodimerization activity IDA15086562
         
    CDSN for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cdsn):
     cardiovascular system  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  immune system 
     integument  mortality/aging  tumorigenesis 

    CDSN for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CDSN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CDSN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CDSN
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CDSN

    miRNA
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    Block miRNA regulation of human, mouse, rat CDSN using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CDSN:
    hsa-miR-610 hsa-miR-3065-5p
    SwitchGear 3'UTR luciferase reporter plasmidCDSN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CDSN
    Predesigned siRNA for gene silencing in human, mouse, rat CDSN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CDSN

    Clone
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    OriGene clones in human, mouse for CDSN (see all 7)
    OriGene ORF clones in mouse, rat for CDSN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CDSN (NM_001264)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CDSN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDSN

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CDSN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDSN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CDSN_HUMAN, Q15517: Secreted. Note=Found in corneodesmosomes, the intercellular structures that are involved in
    desquamation
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    extracellular5

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001533cornified envelope IDA9395522
    GO:0005576extracellular region IEA--
    GO:0005911cell-cell junction TAS9395522
    GO:0030057desmosome NAS9395522

    CDSN for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including CDSN: 
              Adherens Junctions in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CDSN

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for CDSN (Q155172, 3 ENSP000003654654) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2857541 I2D: score=3 STRING: ENSP00000357292
    KLK7P498623, ENSP000003047914I2D: score=1 STRING: ENSP00000304791
    UCHL5Q9Y5K53, ENSP000003564254I2D: score=1 STRING: ENSP00000356425
    AMBRA1Q9C0C73I2D: score=1 
    ATG101Q9BSB43I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion TAS9395522
    GO:0008544epidermis development TAS9395522
    GO:0016337cell-cell adhesion IDA11739386
    GO:0030216keratinocyte differentiation NAS8415725
    GO:0043589skin morphogenesis IMP--

    CDSN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CDSN

    1 Novoseek inferred chemical compound relationship for CDSN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 21.9 2 11279026 (1), 15086562 (1)



    CDSN for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CDSN gene: 
    NM_001264.4  

    Unigene Clusters for CDSN:

    Corneodesmosin
    Hs.310958  [show with all ESTs], Hs.556031  [show with all ESTs]
    Unigene Representative Sequences: BX640954, NM_001264
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000376288(uc003nsm.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CDSN using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CDSN:
    hsa-miR-610 hsa-miR-3065-5p
    SwitchGear 3'UTR luciferase reporter plasmidCDSN 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CDSN
    Predesigned siRNA for gene silencing in human, mouse, rat CDSN
    Clone
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    OriGene clones in human, mouse for CDSN (see all 7)
    OriGene ORF clones in mouse, rat for CDSN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CDSN (NM_001264)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CDSN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDSN
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CDSN
    OriGene qSTAR qPCR primer pairs in human, mouse for CDSN
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat CDSN
      QuantiTect SYBR Green Assays in human, mouse, rat CDSN
      QuantiFast Probe-based Assays in human, mouse, rat CDSN

    Additional mRNA sequence: 

    AK292636.1 BC031993.1 

    7 DOTS entries:

    DT.456124  DT.40300439  DT.75184337  DT.95226601  DT.121401981  DT.121401990  DT.40300437 

    4 AceView cDNA sequences:

    NM_001264 BC031993 AF030130 L20815 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CDSN expression in normal human tissues (normalized intensities)      CDSN embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTGGGCAC
    CDSN Expression
    About this image


    CDSN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Epithelial Cells
             Corneocytes Stratified Epidermis
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Corneocytes Stratified Epidermis
    CDSN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CDSN Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.310958 Hs.556031

    UniProtKB/Swiss-Prot: CDSN_HUMAN, Q15517
    Tissue specificity: Exclusively expressed in skin

        Pathway & Disease-focused RT2 Profiler PCR Array including CDSN: 
              Adherens Junctions in human mouse rat

    Primer
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    QuantiTect SYBR Green Assays in human, mouse, rat CDSN
    QuantiFast Probe-based Assays in human, mouse, rat CDSN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDSN

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for CDSN gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdsn5 corneodesmosin   --   17 (18.70 cM) 35552128 


    ENSEMBL Gene Tree for CDSN (if available)
    TreeFam Gene Tree for CDSN (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CDSN gene
    1 SIMAP similar gene for CDSN using alignment to 7 protein entries:     CDSN_HUMAN (see all proteins):
    S

    CDSN for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    CDSN_HUMAN, Q15517: Genetic variation in CDSN may be associated with susceptibility to psoriasis [MIM:177900]. Various
    CDSN alleles are known including alleles 1.11, 1.21, 1.31, 1.32, 1.41, 1.42, 1.43, 1.51, 1.52, 2.11, 2.21, 2.22
    and 2.23


    10 SNPs for CDSN    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs31309841,2,4
    ----see VAR_0226162 mis40--------
    rs64573281,2,4
    ----see VAR_0460102 mis40--------
    rs30953181,2,4
    ----see VAR_0226152 mis40--------
    rs7079131,2,4
    ----see VAR_0226182 mis40--------
    VAR_0226394
    ----see VAR_0226392 S N mis40--------
    rs10421271,2,4
    ----see VAR_0226192 mis40--------
    rs31309811,2,4
    ----see VAR_0226212 mis40--------
    rs77420331,2,4
    ----see VAR_0226372 mis40--------
    rs339413121,2,4
    ----see VAR_0226412 mis40--------
    rs31325541,2,4
    ----see VAR_0226202 mis40--------

    HapMap Linkage Disequilibrium report for CDSN (31082865 - 31088252 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CDSN:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2731791CNV Deletion23290073
    nsv884137CNV Loss21882294
    nsv525933CNV Loss19592680
    nsv428140CNV Gain+Loss18775914
    esv690CNV CNV17122850
    dgv1919e1CNV Complex17122850
    dgv1918e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): CDSN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CDSN
    DNA2.0 Custom Variant and Variant Library Synthesis for CDSN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602593   
    OMIM disorders: 146520  270300  
    UniProtKB/Swiss-Prot: CDSN_HUMAN, Q15517
  • Hypotrichosis 2 (HYPT2) [MIM:146520]: A condition characterized by the presence of less than the normal
    amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss
    limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third
    decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Peeling skin syndrome (PSS) [MIM:270300]: A genodermatosis characterized by generalized, continuous
    shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with
    non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when
    in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is
    associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by
    lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been
    reported with high IgE levels. Note=The disease is caused by mutations affecting the gene represented in this
    entry. CDNS mutations are responsible for generalized, inflammatory peeling skin syndrome type B
    (PubMed:20691404)

  • Selected diseases for CDSN (see all 27):    About MalaCards
    hypotrichosis 2    guttate psoriasis    hypotrichosis simplex of scalp 1    hypotrichosis simplex
    peeling skin syndrome    eczema herpeticum    psoriasis susceptibility 1    ichthyosis vulgaris
    hypotrichosis    psoriatic arthritis    skin disease    netherton syndrome
    psoriasis    atopy    basal cell carcinoma    amyloidosis
    dermatitis    atopic dermatitis    systemic lupus erythematosus    lupus erythematosus

    2 diseases from the University of Copenhagen DISEASES database for CDSN:
    Psoriasis     Netherton syndrome

    CDSN for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for CDSN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    psoriasis 79.6 70 11454986 (8), 16965413 (6), 15953084 (4), 12472658 (4) (see all 20)
    skin diseases 54.8 8 11454986 (2), 18436651 (2), 19688185 (1)
    dermatitis atopic 29.4 2 19688185 (1), 11454986 (1)

    Genetic Association Database (GAD): CDSN
    Human Genome Epidemiology (HuGE) Navigator: CDSN (13 documents)

    Export disorders for CDSN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CDSN gene, integrated from 10 sources (see all 84):
    (articles sorted by number of sources associating them with CDSN)
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    1. Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes. (PubMed id 9395522)1, 2, 3, 9 Simon M.... Serre G. (J. Biol. Chem. 1997)
    2. Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN). (PubMed id 12472658)1, 2, 4, 9 Orru S....Contu L. (Tissue Antigens 2002)
    3. Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis. (PubMed id 12366786)1, 2, 4, 9 Hui J.... Inoko H. (Tissue Antigens 2002)
    4. Identification in the HLA class I region of a gene expressed late in keratinocyte differentiation. (PubMed id 8415725)1, 2, 3 Zhou Y. and Chaplin D.D. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    5. Psoriasis vulgaris in Chinese individuals is associated with PSORS1C3 and CDSN genes. (PubMed id 16965413)1, 4, 9 Chang Y.T....Tsai S.F. (Br. J. Dermatol. 2006)
    6. Corneodesmosin (CDSN) gene association with psoriasis vulgaris in Caucasian but not in Japanese populations. (PubMed id 15953084)1, 4, 9 Ameen M....Barker J.N. (Clin. Exp. Dermatol. 2005)
    7. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. (PubMed id 12754508)1, 2, 9 Levy-Nissenbaum E.... Pras E. (Nat. Genet. 2003)
    8. Expression cloning of human corneodesmosin proves its identity with the product of the S gene and allows improved characterization of its processing during keratinocyte differentiation. (PubMed id 9712893)1, 2, 9 Guerrin M.... Serre G. (J. Biol. Chem. 1998)
    9. A study of candidate genes for psoriasis near HLA-C in Chinese patients with psoriasis. (PubMed id 12653732)1, 4, 9 Chang Y.T....Wong C.K. (Br. J. Dermatol. 2003)
    10. Identification of six novel polymorphisms in the human corneodesmosin gene. (PubMed id 11169256)1, 2, 9 Guerrin M.... Serre G. (Tissue Antigens 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1041 HGNC: 1802 AceView: CDSN Ensembl:ENSG00000204539 euGenes: HUgn1041
    ECgene: CDSN H-InvDB: CDSN

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CDSN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CDSN gene:
    Search GeneIP for patents involving CDSN

    GeneCards and IP:
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