SLC5A2 gene

solute carrier family 5 member 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Feb 2015]

From UniProt:

Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules.

Sodium-dependent glucose transporter. Has a Na(+) to glucose coupling ratio of 1:1.

From NCBI Gene:

  • Familial renal glucosuria

From UniProt:

Renal glucosuria (GLYS): A disorder characterized by persistent isolated glucosuria, normal fasting serum glucose concentration, decreased renal tubular resorption of glucose from the urine, and absence of any other signs of tubular dysfunction. [MIM:233100]

Cytogenetic Location: 16p11.2, which is the short (p) arm of chromosome 16 at position 11.2

Molecular Location: base pairs 31,482,535 to 31,490,770 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16p11.2, which is the short (p) arm of chromosome 16 at position 11.2