UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:GLUT12
HGNC Symbol:SLC2A12
HGNC Description:solute carrier family 2 (facilitated glucose transporter), member 12
HGNC ID:18067
Superfamily:SLC
Chromosome:Chr.6(-): 134308719-134373789 GRCh37
Location:6q23.2
OMIM:610372
OMIM Phenotype:None
Accessions:AY046419
Nucleotide RefSeq:NM_145176
Protein RefSeq:NP_660159
Entrez:154091
Ensembl:ENSG00000146411
Isoforms:1
Evidence:Substrate In Vitro Evidence: 1. GLUT12 facilitates transport of glucose (D-glucose>D-galactose>D-fructose>L-glucose) in the Xenopus laevis oocyte expression system. Rogers, S et al. Biochem Biophys Res Comm 2003 Aug 29, 308(3):422-6. Tissue Distribution Evidence: 1. Cloned from MCF7 breast cancer cell line. Also expressed in invasive human breast tumors (IHC, RT-PCR). Rogers, S. et al. Cancer Lett 2003 Apr 25, 193(2):225-33 PMID 12706881. 2. Two-step RT-PCR demonstrated expression of mouse GLUT12 in murine adipose tissue (although no expression in NIH3T3 cells). Human GLUT12 was found in human adipose tissue. Wood, IS; Hunter, L; Trayhurn, P. Biochem Biophys Res Comm 2003 Aug 15, 308(1):43-9 PMID 12890477. 3. Immunohistology studies demonstrated a dynamic spatial and temporal expression pattern for GLUT12 in human placenta. Gude, NM et al. Placenta 2003 May, 24(5):566-70 PMID 12744934.
Tissues:malignant breast tumors, adipose tissue, placenta
Type:protein-coding
Sets:0
PharmGKB ID:PA38288
HPRD ID:11572
Substrates:glucose
Trivial Names:GLUT8, GLUT12
Transcripts:NM_145176.2 [Chr.6(-): 134308719-134373789 GRCh37]
ENST00000275230 [Chr.6(-): 134309835-134373774 GRCh37]
Annotation History:View Events (1)

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 SLC2A12.

Variant Data

View all PMT variants for SLC2A12 on UCSC Genome Browser
Showing SNP features for transcript: NM_145176  
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.