UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:GLUT2
HGNC Symbol:SLC2A2
HGNC Description:solute carrier family 2 (facilitated glucose transporter), member 2
HGNC ID:11006
Chromosome:Chr.3(-): 170714137-170744768 GRCh37
OMIM Phenotype:Diabetes mellitus, noninsulin-dependent; Fanconi-bickel syndrome
Nucleotide RefSeq:NM_000340
Protein RefSeq:NP_000331
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
PharmGKB ID:PA35876
HPRD ID:00685
Substrates:2-deoxyglucose, glucose, fructose, monosaccharide
Trivial Names:GLUT2
Transcripts:NM_000340.1 [Chr.3(-): 170714137-170744768 GRCh37]
NM_001278658.1 [Chr.3(-): 170714137-170744768 GRCh37]
NM_001278659.1 [Chr.3(-): 170714137-170744768 GRCh37]
ENST00000314251 [Chr.3(-): 170714137-170744539 GRCh37]
ENST00000382808 [Chr.3(-): 170715544-170744532 GRCh37]
ENST00000461867 [Chr.3(-): 170723209-170736412 GRCh37]
ENST00000469787 [Chr.3(-): 170715544-170744532 GRCh37]
ENST00000471379 [Chr.3(-): 170723205-170725259 GRCh37]
ENST00000497642 [Chr.3(-): 170714609-170744509 GRCh37]

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Expression values:
No expression data exists for SLC2A2.

Variant Data

View all PMT variants for SLC2A2 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

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.