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. A subtype of IgA pemphigus, a life-threatening autoimmune disease, is characterized by the presence of autoantibodies that target the encoded protein. The desmosomal family members are arranged in two clusters on chromosome 18. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protein. [provided by RefSeq, Nov 2015].
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. Linked to the keratinization of epithelial tissues.
Pfam DomainsGO Terms
Pfam Domains
Cadherin
Cadherin C
Cadherin pro
GO Terms
gap junction
desmosome
ficolin-1-rich granule membrane
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
skin development
epidermis development
neutrophil degranulation
neutrophil activation involved in immune response
neutrophil mediated immunity
neutrophil activation
granulocyte activation
cell-cell adhesion
leukocyte degranulation
myeloid leukocyte mediated immunity
myeloid cell activation involved in immune response
myeloid leukocyte activation
leukocyte activation involved in immune response
cell activation involved in immune response
epithelial cell differentiation
regulated exocytosis
calcium ion binding
leukocyte mediated immunity
exocytosis
leukocyte activation
cell adhesion
biological adhesion
secretion by cell
export from cell
programmed cell death
cell activation
immune effector process
cell death
epithelium development
secretion
tissue development
immune response
vesicle-mediated transport
membrane
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)