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    CDSN corneodesmosin [ Homo sapiens (human) ]

    Gene ID: 1041, updated on 27-Nov-2024

    Summary

    Official Symbol
    CDSNprovided by HGNC
    Official Full Name
    corneodesmosinprovided by HGNC
    Primary source
    HGNC:HGNC:1802
    See related
    Ensembl:ENSG00000204539 MIM:602593; AllianceGenome:HGNC:1802
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PSS; HTSS; PSS1; HTSS1; HYPT2
    Summary
    This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis and peeling skin syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Dec 2014]
    Expression
    Restricted expression toward skin (RPKM 78.3) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CDSN in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31115087..31120446, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (30982815..30988170, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31082864..31088223, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31051567-31052066 Neighboring gene RNA, U6 small nuclear 1133, pseudogene Neighboring gene chromosome 6 open reading frame 15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31084517-31085386 Neighboring gene psoriasis susceptibility 1 candidate 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31093168-31093768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31093769-31094369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31094370-31094969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31105363-31106343 Neighboring gene psoriasis susceptibility 1 candidate 2 Neighboring gene RNA polymerase II subunit L pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hypotrichosis 2
    MedGen: C1840299 OMIM: 146520 GeneReviews: Not available
    not available
    Peeling skin syndrome 1
    MedGen: C1849193 OMIM: 270300 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Common genetic variation and the control of HIV-1 in humans.
    EBI GWAS Catalog
    Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
    EBI GWAS Catalog
    Multiple loci are associated with white blood cell phenotypes.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein homodimerization activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in amyloid fibril formation EXP
    Inferred from Experiment
    more info
    PubMed 
    involved_in amyloid fibril formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in corneocyte desquamation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in keratinocyte differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of cornification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skin morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell-cell junction TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cornified envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cornified envelope TAS
    Traceable Author Statement
    more info
     
    located_in desmosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in desmosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    corneodesmosin
    Names
    S protein
    differentiated keratinocyte S protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012192.2 RefSeqGene

      Range
      5000..10359
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001264.5NP_001255.4  corneodesmosin precursor

      Status: REVIEWED

      Source sequence(s)
      AL662844
      Consensus CDS
      CCDS34389.1
      UniProtKB/Swiss-Prot
      B0S7V2, B0UYZ7, G8JLG2, O43509, Q15517, Q5SQ85, Q5STD2, Q7LA70, Q7LA71, Q86Z04, Q8IZU4, Q8IZU5, Q8IZU6, Q8N5P3, Q95IF9, Q9NP52, Q9NPE0, Q9NPG5, Q9NRH4, Q9NRH5, Q9NRH6, Q9NRH7, Q9NRH8, Q9UBH8, Q9UIN6, Q9UIN7, Q9UIN8, Q9UIN9, Q9UIP0
      UniProtKB/TrEMBL
      A0A1U9X8X8
      Related
      ENSP00000365465.2, ENST00000376288.3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      31115087..31120446 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      2597462..2602822 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      2374451..2379806 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      2425601..2430956 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      2459204..2464559 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      2373086..2378448 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      30982815..30988170 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)