UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:GLUT4
HGNC Symbol:SLC2A4
HGNC Description:solute carrier family 2 (facilitated glucose transporter), member 4
HGNC ID:11009
Chromosome:Chr.17(+): 7184986-7191367 GRCh37
OMIM Phenotype:Diabetes mellitus, noninsulin-dependent
Nucleotide RefSeq:NM_001042
Protein RefSeq:NP_001033
Evidence:Substrate In Vitro Evidence: 2-deoxyglucose, D-glucose (Xenopus oocytes) Birnbaum, M. J. Identification of a novel gene encoding an insulin-responsive glucose transporter protein. Cell 57: 305-315, 1989. Bell, G. I.; Kayano, T.; Buse, J. B.; Burant, C. F.; Takeda, J.; Lin, D.; Fukumoto, H.; Seino, S. Molecular biology of mammalian glucose transporters. Diabetes Care 13: 198-208, 1990. Substrate In Vivo Evidence: GLUT4 plays a pivotal role in glucose homeostasis in vivo and in development of insulin resistance. (Transgenic mice, knockout mice, heart-selective knockout mice, adpose-selective mice, muscle-selective mice) Ikemoto, S.; Thompson, K. S.; Itakura, H.; Lane, M. D.; Ezaki, O. Expression of an insulin-responsive glucose transporter (GLUT4) minigene in transgenic mice: effect of exercise and role in glucose homeostasis. Proc. Nat. Acad. Sci. 92: 865-869, 1995. Katz, E. B.; Stenbit, A. E.; Hatton, K.; DePinho, R.; Charron, M. J. Cardiac and adipose tissue abnormalities but not diabetes in mice deficient in GLUT4. Nature 377: 151-155, 1995. Abel, E. D.; Kaulbach, H. C.; Tian, R.; Hopkins, J. C. A.; Duffy, J.; Doetschman, T.; Minnemann, T.; Boers, M.-E.; Hadro, E.; Oberste-Berghaus, C.; Quist, W.; Lowell, B. B.; Ingwall, J. S.; Kahn, B. B. Cardiac hypertrophy with preserved contractile function after selective deletion of GLUT4 from the heart. J. Clin. Invest. 104: 1703-1714, 1999. Abel, E. D.; Peroni, O.; Kim, J. K.; Kim, Y.-B.; Boss, O.; Hadro, E.; Minnemann, T.; Shulman, G. I.; Kahn, B. B. Adipose-selective targeting of the GLUT4 gene impairs insulin action in muscle and liver. Nature 409: 729-733, 2001. Zisman, A.; Peroni, O. D.; Abel, E. D.; Michael, M. D.; Mauvais-Jarvis, F.; Lowell, B. B.; Wojtaszewski, J. F. P.; Hirshman, M. F.; Virkamaki, A.; Goodyear, L. J.; Kahn, C. R.; Kahn, B. B. Targeted disruption of the glucose transporter 4 selectively in muscle causes insulin resistance and glucose intolerance. Nature Med. 6: 924-928, 2000. Tissue Distribution Evidence: GLUT4 mRNA is expressed exclusively in adipose tissue, skeletal muscle and heart. (Northern blotting) Birnbaum, M. J. Identification of a novel gene encoding an insulin-responsive glucose transporter protein. Cell 57: 305-315, 1989.
Tissues:adipose tissue, skeletal muscle and heart
PharmGKB ID:PA35879
HPRD ID:00688
Substrates:2-deoxyglucose, D-glucose
Trivial Names:GLUT4
Transcripts:NM_001042.2 [Chr.17(+): 7185054-7191367 GRCh37]
ENST00000317370 [Chr.17(+): 7184986-7191576 GRCh37]
ENST00000424875 [Chr.17(+): 7185449-7189486 GRCh37]
ENST00000570783 [Chr.17(+): 7185127-7190220 GRCh37]
ENST00000571308 [Chr.17(+): 7185055-7189470 GRCh37]
ENST00000572485 [Chr.17(+): 7185054-7191152 GRCh37]
Annotation History:View Events (2)

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 SLC2A4.

Variant Data

View all PMT variants for SLC2A4 on UCSC Genome Browser
Showing SNP features for transcript: NM_001042  
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.