Gene: DLG1

Alternate names for this Gene: DLGH1|SAP-97|SAP97|hdlg

Gene Summary: This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. A multitude of transcript variants deriving from alternative splicing and the use of multiple alternate promoter have been observed, including some splice variants that may be specific to brain and other tissues. An upstream uORF may regulate translation at some splice variants of this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3q29

Description of this Gene: discs large MAGUK scaffold protein 1

Type of Gene: protein-coding

rs12152266 in DLG1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12495674 in DLG1 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs13327482 in DLG1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.