UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SBAT2
HGNC Symbol:SLC10A2
HGNC Description:solute carrier family 10 (sodium/bile acid cotransporter), member 2
HGNC ID:10906
Superfamily:SLC
Chromosome:Chr.13(-): 103696348-103719196 GRCh37
Location:13q33
OMIM:601295
OMIM Phenotype:Bile acid malabsorption, primary
Accessions:U10417
Nucleotide RefSeq:NM_000452
Protein RefSeq:NP_000443
Entrez:6555
Ensembl:ENSG00000125255
Isoforms:1
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
Tissues:Ileum, kidney
Type:protein-coding
Sets:II,V
PharmGKB ID:PA318
HPRD ID:03189
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.

Tissues:
Expression values:
No expression data exists for SLC10A2.

Variant Data

View all PMT variants for SLC10A2 on UCSC Genome Browser
Showing SNP features for transcript: NM_000452  
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.