UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:GLUT3
HGNC Symbol:SLC2A3
HGNC Description:solute carrier family 2 (facilitated glucose transporter), member 3
HGNC ID:11007
Superfamily:SLC
Chromosome:Chr.12(-): 8071824-8088895 GRCh37
Location:12p13.3
OMIM:138170
OMIM Phenotype:None
Accessions:M20681
Nucleotide RefSeq:NM_006931
Protein RefSeq:NP_008862
Entrez:6515
Ensembl:ENSG00000059804
Isoforms:3
Evidence:Substrate In Vitro Evidence: 2-deoxyglucose, D-galactose, D-glucose (Xenopus oocytes) Sarkar, H. K.; Thorens, B.; Lodish, H. F.; Kaback, H. R. Expression of the human erythrocyte glucose transporter in Escherichia coli. Proc. Nat. Acad. Sci. 85: 5463-5467, 1988 Substrate In Vivo Evidence: GLUT3 may play an important role in brain development. Vannucci RC, Vannucci SJ. Glucose metabolism in the developing brain. Semin Perinatol. 2000 Apr; 24(2): 107-15. Tissue Distribution Evidence: The first cDNA was cloned from human fetal skeletal muscle. The mRNA encoding this protein was present in most if not all tissues, although the amounts varied widely (abundant in the brain). (RNA blotting) Kayano, T.; Fukumoto, H.; Eddy, R. L.; Fan, Y.-S.; Byers, M. G.; Shows, T. B.; Bell, G. I. Evidence for a family of human glucose transporter-like proteins: sequence and gene localization of a protein expressed in fetal skeletal muscle and other tissues. J. Biol. Chem. 263: 15245-15248, 1988.
Tissues:most tissues including skeletal muscle and
Type:protein-coding
Sets:0
PharmGKB ID:PA35877
HPRD ID:00686
Substrates:2-deoxyglucose, D-galactose, D-glucose
Trivial Names:GLUT3
Transcripts:NM_006931.2 [Chr.12(-): 8071824-8088892 GRCh37]
XM_005253471.1 [Chr.12(-): 8071826-8088895 GRCh37]
XM_005253472.1 [Chr.12(-): 8071826-8088895 GRCh37]
ENST00000075120 [Chr.12(-): 8071826-8088871 GRCh37]
ENST00000469295 [Chr.12(-): 8073667-8075885 GRCh37]
ENST00000476634 [Chr.12(-): 8085242-8088783 GRCh37]
ENST00000479059 [Chr.12(-): 8074141-8082651 GRCh37]
ENST00000486749 [Chr.12(-): 8071827-8088763 GRCh37]
ENST00000490763 [Chr.12(-): 8077954-8082631 GRCh37]
ENST00000495813 [Chr.12(-): 8082100-8088765 GRCh37]
ENST00000541671 [Chr.12(-): 8086074-8088780 GRCh37]
ENST00000543435 [Chr.12(-): 8071827-8072346 GRCh37]
ENST00000544291 [Chr.12(-): 8083231-8088782 GRCh37]
ENST00000544936 [Chr.12(-): 8083947-8088783 GRCh37]
Annotation History:View Events (18)

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.

Tissues:
Expression values:
No expression data exists for SLC2A3.

Variant Data

View all PMT variants for SLC2A3 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.