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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CDSN Gene

protein-coding   GIFtS: 53
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)
About This Section

Aliases
corneodesmosin1 2     PSS2
HTSS2 5     S2
D6S586E2     Differentiated Keratinocyte S Protein2
HTSS12     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 simplex of scalp, 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  NT_113891.2  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CDSN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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_113891.2 2,597,569-2,602,957      Chr6-,NT_167246 2,431,222-2,436,605      Chr6-,NT_167245 2,380,037-2,385,420     
Chr6-,NT_167247 2,464,790-2,470,173      Chr6-,NT_167248 2,378,683-2,384,073     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CDSN_HUMAN, Q15517 (See protein sequence)
Recommended Name: Corneodesmosin precursor  
Size: 529 amino acids; 51522 Da
Subcellular location: Secreted. Note=Found in corneodesmosomes, the intercellular structures that are involved in
desquamation
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15517

  • CDSN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CDSN Protein Expression
    REFSEQ proteins: NP_001255.3  
    ENSEMBL proteins: 
     ENSP00000365465  

    Human Recombinant Protein Products for CDSN: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CDSN (Corneodesmosin)
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    OriGene Protein Over-expression Lysate for CDSN
    OriGene Custom MassSpec 
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    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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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



    CDSN Antibody Products: 
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    Novus Biologicals CDSN Antibodies
    Abcam antibodies for CDSN
    Cloud-Clone Corp. Antibodies for CDSN 
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    LSBio Antibodies in human, mouse, rat for CDSN 

    Assay Products for CDSN: 
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    Cloud-Clone Corp. CLIAs for CDSN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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  homeostasis/metabolism  immune system 
     integument  mortality/aging  tumorigenesis 

    CDSN for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CDSN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CDSN
    2 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CDSN
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of CDSN

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for CDSN (see all 8)
    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
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                         Customized lentivirus expression plasmids for stable overexpression of CDSN 

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    Search LifeMap BioReagents cell lines for CDSN
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDSN


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CDSN

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

    5/20 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 
    ATG12O948173I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CDSN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about CDSN

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CDSN
    2 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CDSN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CDSN
    Clone
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    OriGene clones in human, mouse for CDSN (see all 8)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of CDSN 
                         Customized lentivirus expression plasmids for stable overexpression of CDSN 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CDSN
    OriGene qSTAR qPCR primer pairs in human, mouse for CDSN
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat CDSN
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CDSN
      QIAGEN 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/5 selected tissues (see all 5) fully expand
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Corneocytes Stratified Epidermis
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             epididymal fat pads   
     
     Intestine
             Human Villous Capillary Endothelial Cells (HVCEC)   
     
     Endothelium (Gastrointestinal Tract)
             Human Villous Capillary Endothelial Cells (HVCEC)   
     
     Larynx (Respiratory System)

    See CDSN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CDSN

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

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

        SABiosciences Expression via Pathway-Focused PCR Array including CDSN: 
              Adherens Junctions in human mouse rat

    Primer
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    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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CDSN gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdsn1 , 5 corneodesmosin1, 5 71.25(n)1
    70.73(a)1
      17 (18.70 cM)5
    3864631  NM_001008424.21  NP_001008424.21 
     355521285 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG155706
    --
    3(a)
    1 ↔ 1
    X(4112203-4117364)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SRP406
    Nucleolar, serine-rich protein with a role in prer...
    17(a)
    1 → many
    XI(612665-613885)


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: CDSN_HUMAN, Q15517
    Polymorphism: 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 in CDSN are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0226164
    ----see VAR_0226162 N S mis40--------
    VAR_0460104
    ----see VAR_0460102 G S mis40--------
    VAR_0226154
    ----see VAR_0226152 M L mis40--------
    VAR_0226184
    ----see VAR_0226182 S F mis40--------
    VAR_0226394
    ----see VAR_0226392 S N mis40--------
    VAR_0226194
    ----see VAR_0226192 S A mis40--------
    VAR_0226214
    ----see VAR_0226212 D N mis40--------
    VAR_0226374
    ----see VAR_0226372 L F mis40--------
    VAR_0226414
    ----see VAR_0226412 S G mis40--------
    VAR_0226204
    ----see VAR_0226202 S L 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
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 602593   
    OMIM disorders: 146520  
    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)

  • 20/24 diseases for CDSN (see all 24):    About MalaCards
    hypotrichosis simplex of scalp    guttate psoriasis    generalized peeling skin syndrome type b    hypotrichosis simplex
    peeling skin syndrome    psoriasis susceptibility 1    eczema herpeticum    hypotrichosis
    ichthyosis vulgaris    netherton syndrome    psoriatic arthritis    skin disease
    eczema    psoriasis    ichthyosis    atopy
    amyloidosis    dermatitis    basal cell carcinoma    atopic dermatitis

    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)
    About This Section

    PubMed articles for CDSN gene, integrated from 9 sources (see all 82):
    (articles sorted by number of sources associating them with CDSN)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (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. (2002)
    3. Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis. (PubMed id 12366786)1, 2, 4, 9 Hui J.... Inoko H. (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. (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. (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. (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. (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. (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. (2003)
    10. Identification of six novel polymorphisms in the human corneodesmosin gene. (PubMed id 11169256)1, 2, 9 Guerrin M.... Serre G. (2001)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    Patent Information for CDSN gene:
    Search GeneIP for patents involving CDSN

    GeneCards and IP:
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