Gene: SLC2A4

Alternate names for this Gene: GLUT4

Gene Summary: This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM).

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: solute carrier family 2 member 4

Type of Gene: protein-coding

rs121434581 in SLC2A4 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 23492873 2013 Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes?

PMID 1521731 1992 Insulin receptor and insulin-responsive glucose transporter (GLUT 4) mutations and polymorphisms in a Welsh type 2 (non-insulin-dependent) diabetic population.

PMID 22962670 2012 Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.

PMID 1918382 1991 Analysis of the gene sequences of the insulin receptor and the insulin-sensitive glucose transporter (GLUT-4) in patients with common-type non-insulin-dependent diabetes mellitus.

PMID 1756912 1991 Molecular scanning of insulin-responsive glucose transporter (GLUT4) gene in NIDDM subjects.

rs5417 in SLC2A4 gene and Diastolic blood pressure PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

rs5418 in SLC2A4 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2073476 in SLC2A4 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.