SLCO1B3 solute carrier organic anion transporter family member 1B3
Gene ID: 28234, updated on 11-Apr-2024Gene type: protein coding
Also known as: LST3; HBLRR; LST-2; OATP8; OATP-8; OATP1B3; SLC21A8; LST-3TM13
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- Go to complete Gene record for SLCO1B3
- Go to Variation Viewer for SLCO1B3 variants
Summary
This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. Alternative splicing of this gene and the use of alternative promoters results in transcript variants encoding different isoforms that differ in their tissue specificity. [provided by RefSeq, Mar 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population. GeneReviews: Not available | |
| Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. GeneReviews: Not available | |
| Genome-wide association of serum bilirubin levels in Korean population. GeneReviews: Not available | |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available | |
| Rotor syndrome | See labs |
Genomic context
- Location:
- 12p12.2
- Sequence:
- Chromosome: 12; NC_000012.12 (20810705..20916911)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLCO1B3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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