| Common Name: | GLUT4 |
| HGNC Symbol: | SLC2A4 |
| HGNC Description: | solute carrier family 2 (facilitated glucose transporter), member 4 |
| HGNC ID: | 11009 |
| Chromosome: | Chr.17(+): 7125778-7132091 |
| Location: | 17p13 |
| OMIM: | 138190 |
| OMIM Phenotype: | Diabetes mellitus, noninsulin-dependent |
| Accessions: | M20747 |
| Nucleotide RefSeq: | NM_001042 |
| Protein RefSeq: | NP_001033 |
| Entrez: | 6517 |
| Isoforms: | 1 |
| 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 |
| Type: | protein coding |
| Sets: | 0 |
| PharmGKB ID: | PA35879 |
| HPRD ID: | 00688 |
| Substrates: | 2-deoxyglucose, D-glucose |
| Trivial Names: | GLUT4 |
| Transcripts: | NM_001042 [Chr.17(+): 7125778-7132091] |
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.