Gene: SLC5A2

Alternate names for this Gene: SGLT2

Gene Summary: This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: solute carrier family 5 member 2

Type of Gene: protein-coding

rs141627694 in SLC5A2 gene and Glycosuria PMID 30476138 2019 Sequence variants associating with urinary biomarkers.

rs200228142 in SLC5A2 gene and Glycosuria, Renal PMID 18622023 2008 Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.

PMID 14569097 2003 Molecular analysis of the SGLT2 gene in patients with renal glucosuria.