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CDSN corneodesmosin [ Homo sapiens (human) ]

Gene ID: 1041, updated on 8-May-2016
Official Symbol
CDSNprovided by HGNC
Official Full Name
corneodesmosinprovided by HGNC
Primary source
HGNC:HGNC:1802
See related
Ensembl:ENSG00000204539 HPRD:03998; MIM:602593; Vega:OTTHUMG00000031150
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]
Orthologs
Location:
6p21.3
Exon count:
2
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (31115088..31120475, 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 HLA complex group 22 Neighboring gene chromosome 6 open reading frame 15 Neighboring gene psoriasis susceptibility 1 candidate 1 Neighboring gene psoriasis susceptibility 1 candidate 2 Neighboring gene polymerase (RNA) II subunit L pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
keratinocyte differentiation NAS
Non-traceable Author Statement
more info
PubMed 
single organismal cell-cell adhesion IDA
Inferred from Direct Assay
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 
desmosome IDA
Inferred from Direct Assay
more info
PubMed 
desmosome NAS
Non-traceable Author Statement
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
corneodesmosin
Names
differentiated keratinocyte S protein

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_001264.4NP_001255.3  corneodesmosin precursor

    See identical proteins and their annotated locations for NP_001255.3

    Status: REVIEWED

    Source sequence(s)
    AF030130, AL662844
    Consensus CDS
    CCDS34389.1
    UniProtKB/Swiss-Prot
    Q15517
    Related
    ENSP00000365465, OTTHUMP00000029207, ENST00000376288, OTTHUMT00000076275

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    31115088..31120475 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p2 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p2 ALT_REF_LOCI_2

    Range
    2597463..2602851 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p2 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p2 ALT_REF_LOCI_3

    Range
    2374452..2379835 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p2 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p2 ALT_REF_LOCI_4

    Range
    2425602..2430985 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p2 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p2 ALT_REF_LOCI_5

    Range
    2459205..2464588 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p2 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p2 ALT_REF_LOCI_6

    Range
    2373087..2378477 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    31084956..31090339 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)