| Common Name: | GLUT2 |
| HGNC Symbol: | SLC2A2 |
| HGNC Description: | solute carrier family 2 (facilitated glucose transporter), member 2 |
| HGNC ID: | 11006 |
| Chromosome: | Chr.3(-): 172196831-172227462 |
| Location: | 3q26.1-q26.2 |
| OMIM: | 138160 |
| OMIM Phenotype: | Diabetes mellitus, noninsulin-dependent; Fanconi-bickel syndrome |
| Accessions: | AH002747,J03810 |
| Nucleotide RefSeq: | NM_000340 |
| Protein RefSeq: | NP_000331 |
| Entrez: | 6514 |
| Isoforms: | 1 |
| Evidence: | Substrate In Vitro Evidence: 2-deoxyglucose, glucose, fructose, monosaccharide (Xenopus oocytes) Permutt, M. A.; Koranyi, L.; Keller, K.; Lacy, P. E.; Scharp, D. W.; Mueckler, M. Cloning and functional expression of a human pancreatic islet glucose-transporter cDNA. Proc. Nat. Acad. Sci. 86: 8688-8692, 1989. Kinetic analysis of the liver-type (GLUT2) and brain-type (GLUT3) glucose transporters in Xenopus oocytes: substrate specificities and effects of transport inhibitors. Biochem J. 1993 Mar 15; 290 ( Pt 3): 701-6. Substrate In Vivo Evidence: Homozygous mice deficient in GLUT2 are hyperglycemic and relatively hypoinsulinemic and have elevated plasma levels of glucagon, free fatty acids, and beta-hydroxybutyrate. In vivo, their glucose tolerance was abnormal. In vitro, beta-cells displayed loss of control of insulin gene expression by glucose and impaired glucose-stimulated insulin secretion. Guillam, M.-T.; Hummler, E.; Schaerer, E.; Wu, J.-Y.; Birnbaum, M. J.; Beermann, F.; Schmidt, A.; Deriaz, N.; Thorens, B. Early diabetes and abnormal postnatal pancreatic islet development in mice lacking Glut-2. Nature Genet. 17: 327-330, 1997. Genetic variation associated with Fanconi-Bickel syndrome Santer, R.; Schneppenheim, R.; Dombrowski, A.; Gotze, H.; Steinmann, B.; Schaub, J. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nature Genet. 17: 324-326, 1997. Note: Erratum: Nature Genet. 18: 298 only, 1998. Tissue Distribution Evidence: The highest amounts of GLUT2 mRNA are present in liver with lower amounts in kidney and small intestine. (Northern blotting) Fukumoto, H.; Seino, S.; Imura, H.; Seino, Y.; Eddy, R. L.; Fukushima, Y.; Byers, M. G.; Shows, T. B.; Bell, G. I. Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein. Proc. Nat. Acad. Sci. 85: 5434-5438, 1988. |
| Tissues: | liver, kidney, small intestine |
| Type: | protein coding |
| Sets: | 0 |
| PharmGKB ID: | PA35876 |
| HPRD ID: | 00685 |
| Substrates: | 2-deoxyglucose, glucose, fructose, monosaccharide |
| Trivial Names: | GLUT2 |
| Transcripts: | NM_000340 [Chr.3(-): 172196831-172227462] |
View on UCSC Genome Browser or Ensembl Genome Browser
Transmembrane prediction:
Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.