Entrez Summary: 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].
UniProt Summary: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.
Pfam DomainsGO Terms
Pfam Domains
Cadherin
Cadherin C
Cadherin pro
GO Terms
gamma-catenin binding
desmosome
cornified envelope
cornification
homophilic cell adhesion via plasma membrane adhesion molecules
cell-cell junction
keratinization
cell-cell adhesion via plasma-membrane adhesion molecules
keratinocyte differentiation
epidermal cell differentiation
in utero embryonic development
skin development
epidermis development
cell-cell adhesion
cell junction
chordate embryonic development
embryo development ending in birth or egg hatching
epithelial cell differentiation
calcium ion binding
cell adhesion
biological adhesion
embryo development
programmed cell death
cell death
epithelium development
tissue development
extracellular region
membrane
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)