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Beschreibung

Desmoglein-2 (UniProt: Q14126, also known as Cadherin family member 5, HDGC) is encoded by the DSG2 (also known as CDHF5) gene (Gene ID: 1829) in human. Desmogleins are protein substances located in and on the surface of keratinocytes. They are present in specialized cell-cell adhesion structures enriched in tissues that undergo substantial mechanical stress. These proteins have been shown to be a critical factor in cell-to-cell adhesion. Desmoglein-2 is a single-pass type I membrane glycoprotein that is found in all tissues and in carcinomas. It serves as a component of intercellular desmosome junctions. It is involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. It is synthesized with a signal peptide (aa 1-23) and a propeptide (aa 24-49) that are subsequently cleaved off to produce the mature form that contains an extracellular domain (aa 50-609), a transmembrane domain (aa 610-634), and a cytoplasmic domain (aa 635-1118). Mutations in DSG2 gene have been linked to familial type of arrhythmogenic right ventricular dysplasia that is characterized y infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. Desmoglein-2 levels are reported to be consistently upregulated in most cancers where it participates in the maintenance of intracellular junctions that prevents host immune responses. (Ref.: O Brien, CM., et al. (2017). Stem Cells. 35(3), 626-640).