Gene: DLG4

Alternate names for this Gene: MRD62|PSD95|SAP-90|SAP90

Gene Summary: This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: discs large MAGUK scaffold protein 4

Type of Gene: protein-coding

rs314253 in DLG4 gene and Alkaline phosphatase measurement PMID 22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

rs2242449 in DLG4 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs314253 in DLG4 gene and Low density lipoprotein cholesterol measurement PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs314253 in DLG4 gene and Serum LDL cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs408315 in DLG4 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs314253 in DLG4 gene and Serum total cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.