Gene: SLCO1B3

Alternate names for this Gene: HBLRR|LST-2|LST-3TM13|LST3|OATP-8|OATP1B3|OATP8|SLC21A8

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12p12.2

Description of this Gene: solute carrier organic anion transporter family member 1B3

Type of Gene: protein-coding

Gene: SLCO1B3-SLCO1B7

Alternate names for this Gene: LST-3TM12|OATP1B3-1B7

Gene Summary: This locus represents naturally occurring readthrough transcription between the neighboring SLCO1B3 (solute carrier organic anion transporter family member 1B3) and SLCO1B7 (solute carrier organic anion transporter family member 1B7 (putative)) genes on chromosome 12. The readthrough transcript encodes a protein that shares sequence identity with both the upstream and downstream genes.

Gene is located in Chromosome: 12

Location in Chromosome : 12p12.2

Description of this Gene: SLCO1B3-SLCO1B7 readthrough

Type of Gene: protein-coding

rs2417940 in SLCO1B3;SLCO1B3-SLCO1B7 gene and Bilirubin level result PMID 23371916 2013 More importantly, a significant interaction was found between rs2417940 in SLCO1B3 gene and smoking on total bilirubin levels (P = 1.99 × 10(-3) ).

rs2417940 in SLCO1B3;SLCO1B3-SLCO1B7 gene and Bilirubin measurement PMID 20639394 2010 Genome-wide association of serum bilirubin levels in Korean population.

PMID 23371916 2013 More importantly, a significant interaction was found between rs2417940 in SLCO1B3 gene and smoking on total bilirubin levels (P = 1.99 × 10(-3) ).

PMID 31319653 2019 A total of 5 genetic variants-TRPM8 (rs10490012), USP40 (rs12993249), ATG16L1 (rs2119503), SLCO1B1 (rs4149014), and SLCO1B3 (rs73233620)-were selected as genetic instruments for serum bilirubin levels using a communitybased cohort, the Korean Genome and Epidemiology Study, comprising 33,598 subjects.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2417940 in SLCO1B3;SLCO1B3-SLCO1B7 gene and Height PMID 20400458 2010 Genome-wide association of anthropometric traits in African- and African-derived populations.