SLCO1B3 Chromosome 12
Solute carrier organic anion transporter family member 1B3
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What This Gene Does
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]
Gene Info
Gene Group
Solute carrier organic anion transporter family
Locus Type
gene with protein product
Location
12p12.2
Ensembl
ENSG00000111700
Associated Conditions (2)
Rotor syndrome
SLCO1B3-related disorder
Key Variants
RS12299012
Conflicting classifications of pathogenicity
Rotor syndrome, Rotor syndrome
Health Risk
RS142694767
Conflicting classifications of pathogenicity
Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome
Health Risk
RS145036538
Conflicting classifications of pathogenicity
Rotor syndrome, Rotor syndrome
Health Risk
RS145334570
Conflicting classifications of pathogenicity
Rotor syndrome, Rotor syndrome
Health Risk
RS146623116
Conflicting classifications of pathogenicity
Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome
Health Risk
RS180875376
Conflicting classifications of pathogenicity
Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome
Health Risk
RS369736559
Conflicting classifications of pathogenicity
Rotor syndrome, Rotor syndrome
Health Risk
RS370334648
Conflicting classifications of pathogenicity
Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome
Health Risk
RS4149143
Conflicting classifications of pathogenicity
Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome
Health Risk
RS558592800
Conflicting classifications of pathogenicity
Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome
Health Risk
RS777458586
Conflicting classifications of pathogenicity
Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome
Health Risk
RS201833947
Likely pathogenic
Rotor syndrome, Rotor syndrome
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS12299012 | Health Risk | Conflicting classifications of pathogenicity | Rotor syndrome, Rotor syndrome |
| RS142694767 | Health Risk | Conflicting classifications of pathogenicity | Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome |
| RS145036538 | Health Risk | Conflicting classifications of pathogenicity | Rotor syndrome, Rotor syndrome |
| RS145334570 | Health Risk | Conflicting classifications of pathogenicity | Rotor syndrome, Rotor syndrome |
| RS146623116 | Health Risk | Conflicting classifications of pathogenicity | Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome |
| RS180875376 | Health Risk | Conflicting classifications of pathogenicity | Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome |
| RS369736559 | Health Risk | Conflicting classifications of pathogenicity | Rotor syndrome, Rotor syndrome |
| RS370334648 | Health Risk | Conflicting classifications of pathogenicity | Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome |
| RS4149143 | Health Risk | Conflicting classifications of pathogenicity | Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome |
| RS558592800 | Health Risk | Conflicting classifications of pathogenicity | Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome |
| RS777458586 | Health Risk | Conflicting classifications of pathogenicity | Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome |
| RS201833947 | Health Risk | Likely pathogenic | Rotor syndrome, Rotor syndrome |
| RS140033394 | Health Risk | Pathogenic | Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome |
| RS373707046 | Health Risk | Pathogenic | Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome |
| RS78627909 | Health Risk | Pathogenic | Rotor syndrome, SLCO1B3-related disorder, Rotor syndrome |