SLCO1A2
Chr 12solute carrier organic anion transporter family member 1A2
Also known as: OATP, OATP-A, OATP1A2, SLC21A3
The protein is a sodium-independent transporter that mediates cellular uptake of organic anions including bile acids, steroid hormones, thyroid hormones, and retinol across various tissue barriers including intestinal, blood-brain, and retinal barriers. Mutations cause Rotor syndrome, an autosomal recessive disorder characterized by conjugated hyperbilirubinemia due to impaired hepatic uptake and storage of bilirubin conjugates. The gene shows low constraint against loss-of-function variants, consistent with the relatively mild phenotype of the associated recessive condition.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
140 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 37 | 0 | 37 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 81 | 7 | 0 | 88 |
Likely Benign | 0 | 0 | 2 | 0 | 2 |
Benign | 0 | 1 | 0 | 1 | 2 |
| Total | 0 | 82 | 48 | 1 | 131 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLCO1A2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools