SLC22A2: Solute Carrier Family 22 Member 2
Organic Cation Transporter 2 (OCT2) - Pharmacogenomics and Renal Drug Transport
Gene Information Card
| Symbol | SLC22A2 |
|---|---|
| Full Name | Solute Carrier Family 22 Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 6582 ncbi.nlm.nih.gov/gene/6582 |
| Ensembl ID | ENSG00000112473 |
| UniProt ID | O15244 |
| OMIM ID | 602608 |
| HGNC ID | 10967 |
| Aliases | OCT2, OCT2A, OCT2B |
Description
SLC22A2 (Solute Carrier Family 22 Member 2) encodes the organic cation transporter 2 (OCT2), a polyspecific transporter primarily expressed on the basolateral membrane of renal proximal tubule cells. OCT2 mediates the uptake of endogenous cations and many cationic drugs, including metformin, cisplatin, and cimetidine, from the blood into tubular cells, playing a critical role in renal clearance and drug disposition. Genetic variants in SLC22A2 can alter transporter activity, affecting drug efficacy and toxicity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cisplatin-induced nephrotoxicity | Reduced OCT2 function decreases cisplatin uptake into renal tubular cells, lowering nephrotoxicity risk. Gain-of-function variants increase intracellular cisplatin accumulation and toxicity. | ClinVar, PubMed studies |
| Metformin pharmacokinetics | Loss-of-function variants reduce renal metformin clearance, leading to higher plasma concentrations and altered glycemic response. | ClinVar, PharmGKB |
| Chronic kidney disease | Altered OCT2 expression and activity may affect renal handling of uremic toxins and cationic drugs. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | High | Tissue-specific high expression in renal cortex |
| Liver | Low | Minimal expression in hepatocytes |
| Small intestine | Low | Detectable in enterocytes |
| Brain | Not detected | Absent in most brain regions |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | High | Commonly used for heterologous expression studies |
| Caco-2 | Low | Intestinal epithelial model |
| HK-2 | Moderate | Proximal tubule cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.808G>T (p.Ala270Ser) | Missense | ~1-2% in Europeans | Reduced transport activity for metformin and other cations |
| c.596C>T (p.Thr199Ile) | Missense | Rare | Decreased substrate uptake |
| c.1198G>A (p.Gly400Arg) | Missense | Rare | Loss of function |
| c.493A>G (p.Met165Val) | Missense | ~5% in Asians | Reduced transport activity |
Mutation functional classification
Loss of Function (LOF)
Variants such as p.Ala270Ser and p.Thr199Ile reduce OCT2-mediated transport of organic cations, leading to decreased renal clearance of substrates like metformin.
Gain of Function (GOF)
No well-characterized gain-of-function variants are reported; increased activity may be inferred from certain haplotypes but not confirmed.
Dominant Negative (DN)
No dominant-negative effects have been described for SLC22A2.
View complete mutation data：
Gene Ontology (GO)
| • organic cation transmembrane transporter activity (GO:0015205) | • drug transmembrane transporter activity (GO:0015238) |
| • organic cation transport (GO:0015695) | • transmembrane transport (GO:0055085) |
| • basolateral plasma membrane (GO:0016324) | • plasma membrane (GO:0005886) |
Pathways
• Metformin transport (Reactome: R-HSA-975298)
• Transport of organic cations (Reactome: R-HSA-549127)
• Cisplatin transport (Reactome: R-HSA-975298)
Protein Summary
OCT2 is a 555-amino acid polyspecific organic cation transporter with 12 transmembrane domains. It functions as an electrogenic uniporter, facilitating the uptake of small cationic molecules across the basolateral membrane of renal proximal tubule cells. The protein is critical for the renal secretion of many drugs and endogenous metabolites. Its activity is modulated by genetic polymorphisms, drug interactions, and post-translational modifications.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC22A2 Knockout HEK293 Cell Line | EDJ-KQ5799 | Human | 6582 | Details Get a Quote |
| SLC22A23 Knockout HEK293 Cell Line | EDJ-KQ15304 | Human | 63027 | Details Get a Quote |
| SLC22A24 Knockout HEK293 Cell Line | EDJ-KQ15305 | Human | 283238 | Details Get a Quote |
| SLC22A25 Knockout HEK293 Cell Line | EDJ-KQ15306 | Human | 387601 | Details Get a Quote |
| SLC22A23 Knockout A-549 Cell Line | EDJ-KQ46002 | Human | 63027 | Details Get a Quote |
| SLC22A23 Knockout HCT 116 Cell Line | EDJ-KQ46003 | Human | 63027 | Details Get a Quote |
| SLC22A23 Knockout HeLa Cell Line | EDJ-KQ46004 | Human | 63027 | Details Get a Quote |
| SLC22A2 Knockout HeLa Cell Line | EDJ-KQ54520 | Human | 6582 | Details Get a Quote |
| SLC22A24 Knockout HeLa Cell Line | EDJ-KQ59385 | Human | 283238 | Details Get a Quote |
| SLC22A25 Knockout HeLa Cell Line | EDJ-KQ59980 | Human | 387601 | Details Get a Quote |
| SLC22A2 Knockout A-549 Cell Line | EDJ-KQ63005 | Human | 6582 | Details Get a Quote |
| SLC22A24 Knockout A-549 Cell Line | EDJ-KQ67848 | Human | 283238 | Details Get a Quote |
| SLC22A25 Knockout A-549 Cell Line | EDJ-KQ68442 | Human | 387601 | Details Get a Quote |
| SLC22A2 Knockout HCT 116 Cell Line | EDJ-KQ71477 | Human | 6582 | Details Get a Quote |
| SLC22A24 Knockout HCT 116 Cell Line | EDJ-KQ76232 | Human | 283238 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
