UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:HMIT
HGNC Symbol:SLC2A13
HGNC Description:solute carrier family 2 (facilitated glucose transporter), member 13
HGNC ID:15956
Superfamily:SLC
Chromosome:Chr.12(-): 40148823-40499847 GRCh37
Location:12q12
OMIM:611036
OMIM Phenotype:None
Accessions:AJ315644
Nucleotide RefSeq:NM_052885
Protein RefSeq:NP_443117
Entrez:114134
Ensembl:ENSG00000151229
Isoforms:3
Evidence:Substrate In Vitro Evidence: Myo-inositol and related stereoisomers (Xenopus oocytes) Uldry,M., Ibberson,M., Horisberger,J.D., Chatton,J.Y., Riederer,B.M. and Thorens,B. Identification of a mammalian H(+)-myo-inositol symporter expressed predominantly in the brain. EMBO J. 20 (16), 4467-4477 (2001). Tissue Distribution Evidence: A 4.5 kb HMIT transcript was expressed predominantly in the brain, with high expression found in cerebral cortex, hippocampus, hypothalamus, cerebellum and brainstem. HMIT was detected in RNA prepared from primary cultures of neuronal or glial cells. A low level of expression was detected in white, brown and epididymal adipose tissues, and in kidney. (Northern blotting) Uldry,M., Ibberson,M., Horisberger,J.D., Chatton,J.Y., Riederer,B.M. and Thorens,B. Identification of a mammalian H(+)-myo-inositol symporter expressed predominantly in the brain. EMBO J. 20 (16), 4467-4477 (2001).
Tissues:predominantly in the brain; low in white, brown and epididymal adipose tissues, and in kidney
Type:protein-coding
Sets:0
PharmGKB ID:PA38066
HPRD ID:15363
Substrates:Myo-inositol and related stereoisomers
Trivial Names:HMIT
Transcripts:NM_052885.3 [Chr.12(-): 40148823-40499661 GRCh37]
XM_005268615.1 [Chr.12(-): 40148823-40499847 GRCh37]
XM_005268616.1 [Chr.12(-): 40158313-40499847 GRCh37]
ENST00000280871 [Chr.12(-): 40148823-40499661 GRCh37]
ENST00000380858 [Chr.12(-): 40343292-40499891 GRCh37]
ENST00000465517 [Chr.12(-): 40223210-40265683 GRCh37]
ENST00000505338 [Chr.12(-): 40223927-40229562 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 SLC2A13.

Variant Data

View all PMT variants for SLC2A13 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.