Gene: DLG5

Alternate names for this Gene: LP-DLG|P-DLG5|PDLG

Gene Summary: This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.3

Description of this Gene: discs large MAGUK scaffold protein 5

Type of Gene: protein-coding

rs754465 in DLG5 gene and Alanine aminotransferase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs149380977 in DLG5 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs754465 in DLG5 gene and Serum Alanine Aminotransferase Measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs11002319 in DLG5 gene and Serum gamma-glutamyl transferase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.