Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CDSN Gene

Aliases for CDSN Gene

  • Corneodesmosin 2 3
  • HTSS1 3 6
  • PSS 3 6
  • Differentiated Keratinocyte S Protein 3
  • S Protein 4
  • HYPT2 3
  • HTSS 3
  • PSS1 3
  • S 3

External Ids for CDSN Gene

Summaries for CDSN Gene

Entrez Gene Summary for CDSN Gene

  • 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]

GeneCards Summary for CDSN Gene

CDSN (Corneodesmosin) is a Protein Coding gene. Diseases associated with CDSN include hypotrichosis 2 and peeling skin syndrome 1. GO annotations related to this gene include protein homodimerization activity.

UniProtKB/Swiss-Prot for CDSN Gene

  • Important for the epidermal barrier integrity.

Gene Wiki entry for CDSN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDSN Gene

Genomics for CDSN Gene

Genomic Location for CDSN Gene

Start:
31,115,088 bp from pter
End:
31,120,475 bp from pter
Size:
5,388 bases
Orientation:
Minus strand

Genomic View for CDSN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CDSN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Regulatory Elements for CDSN Gene

Proteins for CDSN Gene

  • Protein details for CDSN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15517-CDSN_HUMAN
    Recommended name:
    Corneodesmosin
    Protein Accession:
    Q15517
    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

    Protein attributes for CDSN Gene

    Size:
    529 amino acids
    Molecular mass:
    51522 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA21321.1; Type=Frameshift; Positions=501; Evidence={ECO:0000305}; Sequence=BAB63316.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC54948.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for CDSN Gene

Proteomics data for CDSN Gene at MOPED

Post-translational modifications for CDSN Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Thr37, Thr49, Asn172, and Thr325

Other Protein References for CDSN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CDSN Gene

Domains for CDSN Gene

Protein Domains for CDSN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDSN Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CDSN: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CDSN Gene

Function for CDSN Gene

Molecular function for CDSN Gene

GENATLAS Biochemistry: 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)
UniProtKB/Swiss-Prot Function: Important for the epidermal barrier integrity.

Gene Ontology (GO) - Molecular Function for CDSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IDA 15086562
genes like me logo Genes that share ontologies with CDSN: view
genes like me logo Genes that share phenotypes with CDSN: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CDSN Gene

Localization for CDSN Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDSN Gene

Secreted. Note=Found in corneodesmosomes, the intercellular structures that are involved in desquamation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CDSN Gene COMPARTMENTS Subcellular localization image for CDSN gene
Compartment Confidence
cytoskeleton 5
extracellular 5

Gene Ontology (GO) - Cellular Components for CDSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IDA 9395522
GO:0005911 cell-cell junction TAS 9395522
GO:0030057 desmosome NAS 9395522
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with CDSN: view

Pathways for CDSN Gene

SuperPathways for CDSN Gene

No Data Available

Gene Ontology (GO) - Biological Process for CDSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 9395522
GO:0008544 epidermis development TAS 9395522
GO:0016337 single organismal cell-cell adhesion IDA 11739386
GO:0030216 keratinocyte differentiation NAS 8415725
GO:0043589 skin morphogenesis IMP 20691404
genes like me logo Genes that share ontologies with CDSN: view

No data available for Pathways by source for CDSN Gene

Compounds for CDSN Gene

(1) Novoseek inferred chemical compound relationships for CDSN Gene

Compound -log(P) Hits PubMed IDs
serine 21.9 2
genes like me logo Genes that share compounds with CDSN: view

Transcripts for CDSN Gene

mRNA/cDNA for CDSN Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CDSN Gene

Corneodesmosin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CDSN Gene

No ASD Table

Relevant External Links for CDSN Gene

GeneLoc Exon Structure for
CDSN
ECgene alternative splicing isoforms for
CDSN

Expression for CDSN Gene

mRNA expression in normal human tissues for CDSN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDSN Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (31.1) and Skin - Not Sun Exposed (Suprapubic) (20.5).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for CDSN Gene

SOURCE GeneReport for Unigene cluster for CDSN Gene Hs.310958

mRNA Expression by UniProt/SwissProt for CDSN Gene

Q15517-CDSN_HUMAN
Tissue specificity: Exclusively expressed in skin
genes like me logo Genes that share expressions with CDSN: view

Orthologs for CDSN Gene

This gene was present in the common ancestor of mammals.

Orthologs for CDSN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDSN 35
  • 99.56 (n)
  • 99.62 (a)
CDSN 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CDSN 36
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CDSN 35
  • 84 (n)
  • 82.57 (a)
CDSN 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cdsn 16
Cdsn 36
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CDSN 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDSN 36
  • 45 (a)
OneToOne
Species with no ortholog for CDSN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CDSN Gene

ENSEMBL:
Gene Tree for CDSN (if available)
TreeFam:
Gene Tree for CDSN (if available)

Paralogs for CDSN Gene

Selected SIMAP similar genes for CDSN Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CDSN: view

No data available for Paralogs for CDSN Gene

Variants for CDSN Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CDSN Gene

Q15517-CDSN_HUMAN
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

Sequence variations from dbSNP and Humsavar for CDSN Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
VAR_022615 -
VAR_022616 -
VAR_022618 -
VAR_022619 -
VAR_022620 -

Structural Variations from Database of Genomic Variants (DGV) for CDSN Gene

Variant ID Type Subtype PubMed ID
esv2731791 CNV Deletion 23290073
dgv1918e1 CNV Complex 17122850
dgv1919e1 CNV Complex 17122850
nsv428140 CNV Gain+Loss 18775914
esv690 CNV CNV 17122850
nsv525933 CNV Loss 19592680
nsv884137 CNV Loss 21882294

Relevant External Links for CDSN Gene

HapMap Linkage Disequilibrium report
CDSN
Human Gene Mutation Database (HGMD)
CDSN

Disorders for CDSN Gene

(2) OMIM Diseases for CDSN Gene (602593)

UniProtKB/Swiss-Prot

CDSN_HUMAN
  • 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. {ECO:0000269 PubMed:12754508}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peeling skin syndrome 1 (PSS1) [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. {ECO:0000269 PubMed:20691404}. 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). {ECO:0000269 PubMed:20691404}.

(2) University of Copenhagen DISEASES for CDSN Gene

(3) Novoseek inferred disease relationships for CDSN Gene

Disease -log(P) Hits PubMed IDs
psoriasis 79.6 48
skin diseases 54.8 5
dermatitis atopic 29.4 2

Relevant External Links for CDSN

Genetic Association Database (GAD)
CDSN
Human Genome Epidemiology (HuGE) Navigator
CDSN
genes like me logo Genes that share disorders with CDSN: view

Publications for CDSN Gene

  1. Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes. (PMID: 9395522) Simon M. … Serre G. (J. Biol. Chem. 1997) 2 3 4 23
  2. Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis. (PMID: 12366786) Hui J. … Inoko H. (Tissue Antigens 2002) 3 4 23 48
  3. Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN). (PMID: 12472658) Orru S. … Contu L. (Tissue Antigens 2002) 3 4 23 48
  4. A study of candidate genes for psoriasis near HLA-C in Chinese patients with psoriasis. (PMID: 12653732) Chang Y.T. … Wong C.K. (Br. J. Dermatol. 2003) 3 23 48
  5. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. (PMID: 12754508) Levy-Nissenbaum E. … Pras E. (Nat. Genet. 2003) 3 4 23

Products for CDSN Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Adherens Junctions in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate CDSN
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat
  • Predesigned siRNA for gene silencing in human,mouse,rat for CDSN
  • Block miRNA regulation of CDSN using miScript Target Protectors

Sources for CDSN Gene

Back to Top

Content