Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1041
MIM: 602593
HGNC: 1802
Ensembl: ENSG00000204539
Variants:
dbSNP: 1041
ClinVar: 1041
TCGA: ENSG00000204539
COSMIC: CDSN
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000204539 | ENST00000376288 | G8JLG2 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Developmental Biology | REACTOME | R-HSA-1266738 |
| Keratinization | REACTOME | R-HSA-6805567 |
| Formation of the cornified envelope | REACTOME | R-HSA-6809371 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443622 | Carcinoma, Non-Small-Cell Lung | Disease | ClinicalAnnotation | associated | PD | 31616045 | |
| PA445846 | Thrombocytopenia | Disease | ClinicalAnnotation | associated | PD | 31616045 | |
| PA448803 | carboplatin | Chemical | ClinicalAnnotation | associated | PD | 31616045 | |
| PA449748 | gemcitabine | Chemical | ClinicalAnnotation | associated | PD | 31616045 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37827276 | 2024 | Mature IL-36γ Induces Stratum Corneum Exfoliation in Generalized Pustular Psoriasis by Suppressing Corneodesmosin. | 0 |
| 37827276 | 2024 | Mature IL-36γ Induces Stratum Corneum Exfoliation in Generalized Pustular Psoriasis by Suppressing Corneodesmosin. | 0 |
| 37453912 | 2023 | Identification of B-cell-related HSPG2 and CDSN as susceptibility loci for Kawasaki disease. | 0 |
| 37453912 | 2023 | Identification of B-cell-related HSPG2 and CDSN as susceptibility loci for Kawasaki disease. | 0 |
| 31663161 | 2020 | Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. | 5 |
| 31746457 | 2020 | Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin. | 4 |
| 31663161 | 2020 | Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. | 5 |
| 31746457 | 2020 | Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin. | 4 |
| 29589160 | 2018 | HLA-C*06:02-independent, gender-related association of PSORS1C3 and PSORS1C1/CDSN single-nucleotide polymorphisms with risk and severity of psoriasis. | 17 |
| 29589160 | 2018 | HLA-C*06:02-independent, gender-related association of PSORS1C3 and PSORS1C1/CDSN single-nucleotide polymorphisms with risk and severity of psoriasis. | 17 |
| 28425186 | 2017 | Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate. | 21 |
| 28425186 | 2017 | Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate. | 21 |
| 24116970 | 2014 | Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease. | 8 |
| 24210685 | 2014 | PSORS1C1/CDSN is associated with ankylosing spondylitis. | 2 |
| 24794518 | 2014 | Homozygous deletion of six genes including corneodesmosin on chromosome 6p21.3 is associated with generalized peeling skin disease. | 4 |
Citation
Dessen P
CDSN (corneodesmosin)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61668/cdsn-(corneodesmosin)
