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Aliases for CDSN Gene

Aliases for CDSN Gene

  • Corneodesmosin 2 3 3 5
  • Differentiated Keratinocyte S Protein 3
  • S Protein 4
  • HTSS1 3
  • HYPT2 3
  • PSS1 3
  • HTSS 3
  • PSS 3
  • S 3

External Ids for CDSN Gene

Previous GeneCards Identifiers for CDSN Gene

  • GC06M031139
  • GC06M030854
  • GC06M031189
  • GC06M031191

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 Peeling Skin Syndrome 1 and Hypotrichosis 2. Among its related pathways are Keratinization and Developmental Biology. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDSN Gene

Genomics for CDSN Gene

Regulatory Elements for CDSN Gene

Enhancers for CDSN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G031072 1 Ensembl ENCODE 11.8 +47.9 47908 0.7 FEZF1 ZIC2 ZNF2 HIC1 ZFHX2 ZNF366 GLI2 PATZ1 PRDM10 STAT1 HCG22 C6orf15 PSORS1C1 CDSN VARS2 GTF2H4 DDR1 HCG21 DDR1-AS1 DPCR1
GH06G031079 1 Ensembl ENCODE 11.8 +40.6 40626 0.5 ELF3 CTCF ETV1 RAD21 ARID3A PATZ1 SCRT2 ZNF143 SMC3 DEK HCG22 PSORS1C2 PSORS1C1 C6orf15 CDSN VARS2 GTF2H4 DDR1 DDR1-AS1 DPCR1
GH06G031070 1 Ensembl ENCODE 11.5 +49.6 49561 1.0 CTCF MXI1 PKNOX1 TEAD4 ZNF2 RAD21 TEAD3 SCRT2 ZNF143 SMC3 HCG22 PSORS1C1 CDSN VARS2 GTF2H4 DDR1 C6orf15 DDR1-AS1 HCG21 DPCR1
GH06G031068 0.8 ENCODE 11.5 +51.4 51417 0.2 ELF3 PKNOX1 ATF1 RB1 BMI1 ZBTB40 RAD21 RFX5 ZNF143 CREM HCG22 PSORS1C1 CDSN GTF2H4 VARS2 DDR1 C6orf15 DDR1-AS1 HCG21 DPCR1
GH06G031144 0.4 ENCODE 12.8 -24.3 -24323 1.2 SCRT1 SCRT2 CCHCR1 PSORS1C3 CDSN PSORS1C1 C6orf15 ENSG00000272501 POU5F1 DPCR1 HCG22 LOC101929072
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CDSN on UCSC Golden Path with GeneCards custom track

Genomic Location for CDSN Gene

Chromosome:
6
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

Genes around CDSN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDSN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDSN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

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

Post-translational modifications for CDSN Gene

  • Glycosylation at Thr37, posLast=4949, posLast=172172, and Thr325
  • Modification sites at PhosphoSitePlus

Other Protein References for CDSN Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CDSN (Corneodesmosin)
  • Santa Cruz Biotechnology (SCBT) Antibodies for CDSN

No data available for DME Specific Peptides for CDSN Gene

Domains & Families 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

Human Phenotype Ontology for CDSN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for CDSN

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDSN gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1
endosome 1

Gene Ontology (GO) - Cellular Components for CDSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005886 plasma membrane TAS --
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 & Interactions for CDSN Gene

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

Pathways by source for CDSN Gene

Gene Ontology (GO) - Biological Process for CDSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003336 corneocyte desquamation IMP 26014679
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
genes like me logo Genes that share ontologies with CDSN: view

No data available for SIGNOR curated interactions for CDSN Gene

Drugs & Compounds for CDSN Gene

(1) Drugs for CDSN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for CDSN Gene

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

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x31.1) and Skin - Not Sun Exposed (Suprapubic) (x20.5).

Protein differential expression in normal tissues from HIPED for CDSN Gene

This gene is overexpressed in Hair follicle (20.5), Cerebrospinal fluid (15.5), and Bone marrow mesenchymal stem cell (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CDSN Gene



NURSA nuclear receptor signaling pathways regulating expression of CDSN Gene:

CDSN

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.

Evidence on tissue expression from TISSUES for CDSN Gene

  • Skin(4.8)
  • Blood(2.5)
  • Saliva(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CDSN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • respiratory
Organs:
Head and neck:
  • head
  • scalp
Thorax:
  • bronchus
  • lung
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • hair
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CDSN: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for CDSN Gene

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 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia CDSN 34 35
  • 84 (n)
cow
(Bos Taurus)
Mammalia CDSN 35
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CDSN 35
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cdsn 35
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDSN 35
  • 45 (a)
OneToOne
Species where no ortholog for CDSN was found in the sources mined by GeneCards:
  • 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

(1) 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

CDSN_HUMAN-Q15517
Genetic variation in CDSN may be associated with susceptibility to psoriasis [MIM:177900] (PubMed:10599883, PubMed:12472658,PubMed:10844560). 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 (PubMed:11169256).

Sequence variations from dbSNP and Humsavar for CDSN Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs121917819 Pathogenic 31,116,972(-) CCAAC(C/G/T)AGCGT intron-variant, reference, missense, stop-gained
rs121917820 Pathogenic 31,117,017(-) CTTCC(C/T)AGACC intron-variant, reference, stop-gained
rs387906841 Pathogenic 31,117,440(-) CTGGG(A/T)AGGGT intron-variant, reference, stop-gained
rs606231274 Pathogenic 31,117,447(-) CCCTG(-/GCCT)TCACT intron-variant, reference, frameshift-variant
rs606231275 Pathogenic 31,117,191(-) ACTCG(G/T)GAAAC intron-variant, reference, stop-gained

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

Variant ID Type Subtype PubMed ID
esv2731791 CNV deletion 23290073
esv2759414 CNV gain+loss 17122850
esv3411275 CNV duplication 20981092
nsv1033227 CNV gain 25217958
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv428140 CNV gain+loss 18775914
nsv525933 CNV loss 19592680
nsv601264 CNV loss 21841781
nsv601481 CNV loss 21841781
nsv601490 CNV gain 21841781
nsv601491 CNV loss 21841781

Variation tolerance for CDSN Gene

Residual Variation Intolerance Score: 94.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.77; 96.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CDSN Gene

Human Gene Mutation Database (HGMD)
CDSN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDSN

Disorders for CDSN Gene

MalaCards: The human disease database

(33) MalaCards diseases for CDSN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peeling skin syndrome 1
  • peeling skin syndrome
hypotrichosis 2
  • htss1
hypotrichosis simplex of the scalp
  • hereditary hypotrichosis simplex of the scalp
peeling skin syndrome
  • deciduous skin
psoriasis
- elite association - COSMIC cancer census association via MalaCards
Search CDSN in MalaCards View complete list of genes associated with diseases

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}.

Relevant External Links for CDSN

Genetic Association Database (GAD)
CDSN
Human Genome Epidemiology (HuGE) Navigator
CDSN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CDSN
genes like me logo Genes that share disorders with CDSN: view

No data available for Genatlas for CDSN Gene

Publications for CDSN Gene

  1. Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis. (PMID: 12366786) Hui J. … Inoko H. (Tissue Antigens 2002) 3 4 22 46 64
  2. Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN). (PMID: 12472658) Orru S. … Contu L. (Tissue Antigens 2002) 3 4 22 46 64
  3. 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 22 64
  4. Psoriasis vulgaris in Chinese individuals is associated with PSORS1C3 and CDSN genes. (PMID: 16965413) Chang Y.T. … Tsai S.F. (Br. J. Dermatol. 2006) 3 22 46 64
  5. The major psoriasis susceptibility locus PSORS1 is not a risk factor for late-onset psoriasis. (PMID: 15654960) Allen M.H. … Barker J.N. (J. Invest. Dermatol. 2005) 3 22 46 64

Products for CDSN Gene

Sources for CDSN Gene

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