UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:GLUT6
HGNC Symbol:SLC2A6
HGNC Description:solute carrier family 2 (facilitated glucose transporter), member 6
HGNC ID:11011
Superfamily:SLC
Chromosome:Chr.9(-): 136336216-136344276 GRCh37
Location:9q34
OMIM:606813
OMIM Phenotype:None
Accessions:AJ011372
Nucleotide RefSeq:NM_017585
Protein RefSeq:NP_060055
Entrez:11182
Ensembl:ENSG00000160326
Isoforms:4
Evidence:Substrate In Vitro Evidence: Glucose (GLUT6 transfected COS-7 cells) Doege, H.; Bocianski, A.; Joost, H.-G.; Schurmann, A. Activity and genomic organization of human glucose transporter 9 (GLUT9), a novel member of the family of sugar-transport facilitators predominantly expressed in brain and leucocytes. Biochem. J. 350: 771-776, 2000. Tissue Distribution Evidence: GLUT6 is expressed exclusively in brain, spleen, and peripheral leukocytes (Northern blotting) Doege, H.; Bocianski, A.; Joost, H.-G.; Schurmann, A. Activity and genomic organization of human glucose transporter 9 (GLUT9), a novel member of the family of sugar-transport facilitators predominantly expressed in brain and leucocytes. Biochem. J. 350: 771-776, 2000.
Tissues:brain, spleen, and peripheral leukocytes
Type:protein-coding
Sets:0
PharmGKB ID:PA35881
HPRD ID:06010
Substrates:Glucose
Trivial Names:GLUT6, GLUT9, HSA011372
Transcripts:NM_017585.3 [Chr.9(-): 136336216-136344276 GRCh37]
NM_001145099.1 [Chr.9(-): 136336216-136344276 GRCh37]
XM_005272168.1 [Chr.9(-): 136340143-136344258 GRCh37]
XM_005276847.1 [Chr.9(-): 301115-305230 GRCh37]
ENST00000371897 [Chr.9(-): 136336217-136344218 GRCh37]
ENST00000371899 [Chr.9(-): 136336217-136344259 GRCh37]
ENST00000414172 [Chr.9(-): 136340528-136344197 GRCh37]
ENST00000432868 [Chr.9(-): 136340522-136344249 GRCh37]
ENST00000485978 [Chr.9(-): 136336217-136344218 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.

Tissues:
Expression values:
No expression data exists for SLC2A6.

Variant Data

View all PMT variants for SLC2A6 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.