DLG5 Gene: Function, Expression, Mutations, and Disease Associations | Biomedical SEO

DLG5 (Discs Large MAGUK Scaffold Protein 5) encodes a member of the membrane-associated guanylate kinase (MAGUK) family. This protein is involved in maintaining epithelial cell polarity, cell adhesion, and signal transduction. It contains multiple PDZ domains, an SH3 domain, and a guanylate kinase-like domain, which mediate protein-protein interactions. DLG5 is implicated in various cellular processes including proliferation, migration, and differentiation. Genetic variations in DLG5 have been associated with inflammatory bowel disease (IBD) and certain cancers, suggesting a role in disease susceptibility and progression.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Epithelial cell signaling in Helicobacter pylori infection (KEGG hsa05120)

• Adherens junction (KEGG hsa04520)

• Tight junction (KEGG hsa04530)

• Wnt signaling pathway (Reactome R-HSA-195721)

The DLG5 protein is a scaffold protein of the MAGUK family, characterized by multiple PDZ domains, an SH3 domain, and a guanylate kinase-like domain. It localizes to cell junctions, particularly adherens junctions, where it interacts with other polarity proteins such as Crumbs and PALS1. DLG5 plays a critical role in maintaining epithelial cell polarity and integrity. It also participates in signal transduction pathways, including Ras and Wnt signaling, influencing cell proliferation and differentiation. Post-translational modifications, such as phosphorylation, regulate its function. Mutations or altered expression of DLG5 have been linked to inflammatory bowel disease and various cancers, highlighting its importance in tissue homeostasis.