DSC3

The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]

Description

Desmocollin 3

Tissue specificity

Group enriched (esophagus, skin)

Subcell location

Plasma membrane, Cell Junctions

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

18 (30989365 - 31042815)

Ensembl ID

ENSG00000134762  (ver. 103.38)

Orthologs

Mouse Dsc3: ENSMUSG00000059898

UniProt

Q14574

neXtProt

NX_Q14574

Human splice variants
Mouse splice variants

Protein structure