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CDSN corneodesmosin [ Homo sapiens (human) ]

Gene ID: 1041, updated on 11-Sep-2019

Summary

Official Symbol
CDSNprovided by HGNC
Official Full Name
corneodesmosinprovided by HGNC
Primary source
HGNC:HGNC:1802
See related
Ensembl:ENSG00000204539 MIM:602593
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
S; 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

Genomic context

See CDSN in Genome Data Viewer
Location:
6p21.33
Exon count:
2
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31115087..31120446, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31082865..31088252, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1133, pseudogene Neighboring gene chromosome 6 open reading frame 15 Neighboring gene psoriasis susceptibility 1 candidate 1 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
Compare labs
Peeling skin syndrome
MedGen: C1849193 OMIM: 270300 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
    Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
corneodesmosin
Names
differentiated keratinocyte S protein

NCBI Reference Sequences (RefSeq)

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_012192.1 RefSeqGene

    Range
    4972..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
    Related
    ENSP00000365465.2, ENST00000376288.3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

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

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

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

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

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

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

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

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

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