CDSN Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CDSN |
| Official Name | corneodesmosin [Source:HGNC Symbol;Acc:HGNC:1802] |
| Ensembl ID | ENSG00000137197 |
| Bio databases IDs | |
| Aliases | corneodesmosin |
| Synonyms | AI747712, Corneodesmosin, HTSS, HTSS1, HYPT2, LOC100043961, LOC100044189, LOC682408, PSS, PSS1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CDSN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glycine loop domain
- protein homodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- psoriasis
- peeling skin syndrome type 1
- oral submucous fibrosis
- alopecia
- hypotrichosis type 2
- hypotrichosis simplex of scalp
phenotypes
- HYPOTRICHOSIS 2
- PEELING SKIN SYNDROME 1
role in cell
- formation
- adhesion
- aggregation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cornified envelope
- Extracellular Space
- intercellular junctions
- desmosomes
- corneodesmosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CDSN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- keratinocyte differentiation
- corneocyte desquamation
- epidermis development
- cell adhesion
- skin morphogenesis
Cellular Component
Where in the cell the gene product is active
- cornified envelope
- cell-cell junction
- desmosome
- extracellular region
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity