UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:GLUT8
HGNC Symbol:SLC2A8
HGNC Description:solute carrier family 2 (facilitated glucose transporter), member 8
HGNC ID:13812
Superfamily:SLC
Chromosome:Chr.9(+): 130159417-130170177 GRCh37
Location:9q33.3
OMIM:605245
OMIM Phenotype:None
Accessions:BC019043
Nucleotide RefSeq:NM_014580
Protein RefSeq:NP_055395
Entrez:29988
Ensembl:ENSG00000136856
Isoforms:4
Evidence:Substrate In Vitro Evidence: Hexose, glucose (xenopus oocyte) Ibberson, M.; Uldry, M.; Thorens, B. GLUTX1, a novel mammalian glucose transporter expressed in the central nervous system and insulin-sensitive tissues. J. Biol. Chem. 275: 4607-4612, 2000. COS-7 cells transfected with GLUT8 cDNA expressed a 42-kDa protein exhibiting specific, glucose-inhibitable cytochalasin B binding and reconstitutable glucose transport activity. Doege, H.; Schurmann, A.; Bahrenberg, G.; Brauers, A.; Joost, H. G. GLUT8, a novel member of the sugar transport facilitator family with glucose transport activity. J. Biol. Chem. 275: 16275-16280, 2000. Presence of this transporter may be necessary for successful blastocyst development, fuel metabolism, and subsequent implantation. Carayannopoulos, M. O.; Chi, M. M.-Y.; Cui, Y.; Pingsterhaus, J. M.; McKnight, R. A.; Mueckler, M.; Devaskar, S. U.; Moley, K. H. GLUT8 is a glucose transporter responsible for insulin-stimulated glucose uptake in the blastocyst. Proc. Nat. Acad. Sci. 97: 7313-7318, 2000. Substrate In Vivo Evidence: GLUT8 is intimately linked to glucose homeostasis Gorovits N, Cui L, Busik JV, Ranalletta M, Hauguel de-Mouzon S, Charron MJ. Regulation of hepatic GLUT8 expression in normal and diabetic models. Endocrinology 144(5):1703-11, 2003 Tissue Distribution Evidence: In human tissues, a 2.4-kilobase pair transcript was predominantly found in testis, but not in testicular carcinoma. Lower amounts of the mRNA were detected in most other tissues including skeletal muscle, heart, small intestine, and brain. (Northern blotting) Doege, H.; Schurmann, A.; Bahrenberg, G.; Brauers, A.; Joost, H. G. GLUT8, a novel member of the sugar transport facilitator family with glucose transport activity. J. Biol. Chem. 275: 16275-16280, 2000.
Tissues:predominantly in testis; low in most other tissues including skeletal muscle, heart, small intestine, and brain
Type:protein-coding
Sets:0
PharmGKB ID:PA37813
HPRD ID:05580
Substrates:Hexose, glucose
Trivial Names:GLUT8, GLUTX1
Transcripts:NM_014580.4 [Chr.9(+): 130159417-130170177 GRCh37]
NM_001271711.1 [Chr.9(+): 130159417-130170177 GRCh37]
NM_001271712.1 [Chr.9(+): 130159417-130170177 GRCh37]
XM_005251949.1 [Chr.9(+): 130159812-130170166 GRCh37]
ENST00000373352 [Chr.9(+): 130159505-130169570 GRCh37]
ENST00000373360 [Chr.9(+): 130159510-130170177 GRCh37]
ENST00000373371 [Chr.9(+): 130159421-130170177 GRCh37]
ENST00000419132 [Chr.9(+): 130159663-130166070 GRCh37]
ENST00000419917 [Chr.9(+): 130159486-130166346 GRCh37]
ENST00000423934 [Chr.9(+): 130160462-130167755 GRCh37]
ENST00000430147 [Chr.9(+): 130162243-130169931 GRCh37]
ENST00000439597 [Chr.9(+): 130160462-130167754 GRCh37]
ENST00000451404 [Chr.9(+): 130159434-130167834 GRCh37]
ENST00000477027 [Chr.9(+): 130166302-130170698 GRCh37]
ENST00000484208 [Chr.9(+): 130169683-130170703 GRCh37]
ENST00000484617 [Chr.9(+): 130164643-130166026 GRCh37]
ENST00000485806 [Chr.9(+): 130166328-130167726 GRCh37]
ENST00000489239 [Chr.9(+): 130165557-130167748 GRCh37]
Annotation History:View Events (33)

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 SLC2A8.

Variant Data

View all PMT variants for SLC2A8 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.