SLCO2B1 Gene: Solute Carrier Organic Anion Transporter Family Member 2B1
SLCO2B1 encodes a multispecific organic anion transporter involved in drug disposition and bile acid transport.
Gene Information Card
| Symbol | SLCO2B1 |
|---|---|
| Full Name | Solute Carrier Organic Anion Transporter Family Member 2B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 9359 ncbi.nlm.nih.gov/gene/9359 |
| Ensembl ID | ENSG00000137491 |
| UniProt ID | O94956 |
| OMIM ID | 604988 |
| HGNC ID | 10962 |
| Aliases | OATP2B1, OATP-B, OATP-RP2, SLC21A9 |
Description
SLCO2B1 encodes the organic anion transporting polypeptide 2B1 (OATP2B1), a membrane transporter that mediates sodium-independent uptake of a broad range of endogenous and exogenous organic anions, including bile acids, steroid conjugates, and numerous drugs. It is expressed in multiple tissues and plays a key role in drug absorption, distribution, and elimination.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary hypertrophic osteoarthropathy | Loss-of-function mutations in SLCO2B1 impair prostaglandin transport, leading to abnormal bone and skin growth | PMID: 22628003, OMIM 604988 |
| Drug-induced liver injury | Polymorphisms in SLCO2B1 alter hepatic uptake of hepatotoxic drugs | PMID: 25684351 |
| Hyperbilirubinemia (transient) | Reduced OATP2B1 activity may impair bilirubin clearance | PMID: 19749795 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Small intestine | 18.3 | High |
| Kidney | 8.7 | Medium |
| Placenta | 15.1 | High |
| Lung | 3.2 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 9.4 | Hepatocyte model |
| Caco-2 | 22.1 | Intestinal epithelial model |
| HEK293 | 0.5 | Low endogenous expression |
| MDCK | 0.3 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.601G>A (p.Gly201Arg) | Missense | Rare | Reduced transport activity |
| c.935G>A (p.Arg312Gln) | Missense | Rare | Altered substrate specificity |
| c.1457C>T (p.Pro486Leu) | Missense | Rare | Loss of function |
| c.1738C>T (p.Arg580*) | Nonsense | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants (e.g., p.Gly201Arg, p.Arg580*) reduce or abolish transporter activity, linked to primary hypertrophic osteoarthropathy.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described for SLCO2B1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0008514 – organic anion transmembrane transporter activity | • GO:0015238 – drug transmembrane transporter activity |
| • GO:0015293 – symporter activity | • GO:0016021 – integral component of membrane |
| • GO:0055085 – transmembrane transport |
Pathways
• Drug metabolism - other enzymes (Reactome: R-HSA-211981)
• Transport of organic anions (Reactome: R-HSA-879518)
• Bile acid and bile salt metabolism (Reactome: R-HSA-194068)
Protein Summary
OATP2B1 is a 709-amino acid transmembrane protein with 12 predicted helices. It functions as a sodium-independent organic anion exchanger, facilitating cellular uptake of substrates such as estrone-3-sulfate, dehydroepiandrosterone sulfate, prostaglandins, and numerous drugs (e.g., statins, fexofenadine). The protein is glycosylated and localized to the basolateral membrane in hepatocytes and the apical membrane in enterocytes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLCO2B1 Knockout HEK293 Cell Line | EDJ-KQ2124 | Human | 11309 | Details Get a Quote |
| SLCO2B1 Knockout A-549 Cell Line | EDJ-KQ22276 | Human | 11309 | Details Get a Quote |
| SLCO2B1 Knockout HeLa Cell Line | EDJ-KQ22277 | Human | 11309 | Details Get a Quote |
| SLCO2B1 Knockout HCT 116 Cell Line | EDJ-KQ72570 | Human | 11309 | Details Get a Quote |
| SLCO2B1 Knockout Huh-7 Cell Line | EDC08363 | Human | 11309 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
