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CDSN corneodesmosin [ Homo sapiens (human) ]

Gene ID: 1041, updated on 15-Sep-2022

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
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Genomic context

See CDSN in Genome Data Viewer
Location:
6p21.33
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31115087..31120446, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (30982815..30988170, complement)
105.20220307 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 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 1
MedGen: C1849193 OMIM: 270300 GeneReviews: Not available
Compare labs

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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)

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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/TrEMBL
    G8JLG2
    Related
    ENSP00000365465.2, ENST00000376288.3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)