Aliases for SLC2A2 Gene
External Ids for SLC2A2 Gene
Previous HGNC Symbols for SLC2A2 Gene
Previous GeneCards Identifiers for SLC2A2 Gene
This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
GeneCards Summary for SLC2A2 Gene
SLC2A2 (Solute Carrier Family 2 Member 2) is a Protein Coding gene. Diseases associated with SLC2A2 include fanconi-bickel syndrome and glycogen storage disease due to glut2 deficiency. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include transmembrane transporter activity and glucose transmembrane transporter activity. An important paralog of this gene is ENSG00000251357.
UniProtKB/Swiss-Prot for SLC2A2 Gene
Facilitative glucose transporter. This isoform likely mediates the bidirectional transfer of glucose across the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of the glucose-sensing mechanism of the beta cell. May also participate with the Na(+)/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney.