SLC2A2 gene

solute carrier family 2 member 2

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

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Diabetes mellitus type 2
  • Fanconi-Bickel syndrome

From UniProt:

Fanconi-Bickel syndrome (FBS): 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. [MIM:227810]

Cytogenetic Location: 3q26.2, which is the long (q) arm of chromosome 3 at position 26.2

Molecular Location: base pairs 170,996,341 to 171,026,979 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q26.2, which is the long (q) arm of chromosome 3 at position 26.2