|HGNC Description:||solute carrier family 5 (sodium/myo-inositol cotransporter), member 3|
|Chromosome:||Chr.21(+): 35445503-35515334 GRCh37|
|Evidence:||Substrate In Vitro Evidence: myo-inositol 15 X oocytes scylloinositol 15 X oocytes L-fucose 15 X oocytes L-xylose 15 X oocytes L-glucose 15 X oocytes D-glucose 15 X oocytes alpha-methyl-D-glucopyranoside 15 X oocytes D-galactose 15 X oocytes D-fucose 15 X oocytes 3-O-methyl-D-glucose 15 X oocytes 2-deoxy-D-glucose 15 X oocytes D-xylose 15 X oocytes Tissue Distribution Evidence: kidney, brain, placenta, pancreas, heart, skeletal muscle, and lung 2 Northern|
|Tissues:||kidney, brain, placenta, pancreas, heart, skeletal muscle, and lung|
|Substrates:||myo-inositol, scylloinositol, L-fucose, L-xylose, L-glucose, D-glucose, alpha-methyl-D-glucopyranoside, D-galactose, D-fucose, 3-O-methyl-D-glucose, 2-deoxy-D-glucose, D-xylose|
|Trivial Names:||SMIT, SMIT1, SMIT2|
|Transcripts:||NM_006933.4 [Chr.21(+): 35445870-35478561 GRCh37]|
XM_005261034.1 [Chr.21(+): 35445503-35515334 GRCh37]
XM_005261033.1 [Chr.21(+): 35445876-35515334 GRCh37]
XM_005261035.1 [Chr.21(+): 35445876-35478559 GRCh37]
|ENST00000608209 [Chr.21(+): 35445870-35478561 GRCh37]|
|Annotation History:||View Events (27)|
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.