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],
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Function:
Disease:Defects in SLC2A2 are the cause of Fanconi-Bickel syndrome (FBS) [MIM:227810]. FBS is a rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose.,Function: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.,online information:GLUT2 entry,PTM:N-glycosylated; required for stability and retention at the cell surface of pancreatic beta cells.,similarity:Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.,tissue specificity:Liver, insulin-producing beta cell, small intestine and kidney.,
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Cellular Localization:
Cell membrane ; Multi-pass membrane protein .
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Tissue Expression:
Liver, insulin-producing beta cell, small intestine and kidney.
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Research Areas:
>>Insulin secretion ;
>>Prolactin signaling pathway ;
>>Glucagon signaling pathway ;
>>Type II diabetes mellitus ;
>>Insulin resistance ;
>>Maturity onset diabetes of the young ;
>>Carbohydrate digestion and absorption ;
>>Central carbon metabolism in cancer