|HGNC Description:||solute carrier family 10 (sodium/bile acid cotransporter), member 2|
|Chromosome:||Chr.13(-): 103696348-103719196 GRCh37|
|OMIM Phenotype:||Bile acid malabsorption, primary|
|Evidence:||Substrate In Vitro Evidence: taurocholate 30 COS cells cholate 30 COS cells glycodeoxycholate 30 COS cells glycochenodeoxycholate 30 COS cells glycoursodeoxycholate 30 COS cells Inhibitors: Cyclosporin A (strong) 30 COS cells bromosulfophthalein (weak) 30 COS cells chenodeoxycholate-3-sulfate (weak) 30 COS cells 264W94 (cholesterol lowering agent) 37 rat and monkey brush border membrane vesicles Tissue Distribution Evidence: ileum 30 Northern kidney 30 Northern|
|Substrates:||taurocholate, cholate, glycodeoxycholate, glycochenodeoxycholate, glycoursodeoxycholate|
|Trivial Names:||ASBT, IBAT, ISBT, PBAM, NTCP2|
|Transcripts:||NM_000452.2 [Chr.13(-): 103696348-103719196 GRCh37]||ENST00000245312 [Chr.13(-): 103696350-103719196 GRCh37]|
|Annotation History:||View Events (2)|
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.