|HGNC Description:||solute carrier family 2 (facilitated glucose transporter), member 13|
|Chromosome:||Chr.12(-): 40148823-40499847 GRCh37|
|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|
|Substrates:||Myo-inositol and related stereoisomers|
|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.
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.
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.