SLC22A13: Solute Carrier Family 22 Member 13
Organic Anion Transporter 3 (OAT3) Gene
Gene Information Card
| Symbol | SLC22A13 |
|---|---|
| Full Name | Solute Carrier Family 22 Member 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.1 |
| NCBI Gene ID | 9390 ncbi.nlm.nih.gov/gene/9390 |
| Ensembl ID | ENSG00000172955 |
| UniProt ID | Q9Y226 |
| OMIM ID | 604055 |
| HGNC ID | 10970 |
| Aliases | OAT3, hOAT3, OCTL3, OAT10 |
Description
SLC22A13 encodes the organic anion transporter 3 (OAT3), a transmembrane protein involved in the renal and hepatic clearance of organic anions, including drugs, toxins, and endogenous metabolites. OAT3 mediates the sodium-independent transport of substrates such as urate, para-aminohippurate (PAH), and various anionic drugs. The gene is part of the SLC22 family of solute carriers and is expressed predominantly in kidney and liver.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperuricemia | Reduced urate transport due to loss-of-function variants in SLC22A13 may impair renal urate excretion, contributing to elevated serum uric acid levels. | PMID: 19033658 |
| Gout | Impaired urate handling via OAT3 dysfunction is associated with gout susceptibility. | PMID: 19033658 |
| Drug-induced nephrotoxicity | Altered OAT3 activity can affect renal clearance of anionic drugs, potentially increasing nephrotoxic risk. | PMID: 19033658 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | High | High |
| Liver | Medium | Medium |
| Small intestine | Low | Low |
| Brain | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | High | Overexpression studies |
| MDCK | High | Overexpression studies |
| HepG2 | Medium | Endogenous expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.149G>A (p.Arg50Gln) | Missense | Rare | Reduced transport activity in vitro |
| c.1249G>A (p.Gly417Arg) | Missense | Rare | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
p.Arg50Gln reduces urate transport capacity.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data:
Gene Ontology (GO)
| • organic anion transmembrane transporter activity (GO:0008514) | • amino acid transmembrane transporter activity (GO:0015171) |
| • symporter activity (GO:0015293) | • integral component of membrane (GO:0016021) |
| • transmembrane transport (GO:0055085) |
Pathways
• Renal organic anion transport
• Urate homeostasis
• Drug metabolism - other enzymes
Protein Summary
OAT3 (UniProt Q9Y226) is a 542-amino acid multi-pass membrane protein with 12 transmembrane domains. It functions as an organic anion exchanger, coupling the uptake of organic anions with the efflux of dicarboxylates. OAT3 is critical for renal secretion of urate and many drugs, including diuretics, NSAIDs, and antibiotics. Its activity is regulated by phosphorylation and protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC22A13 Knockout HEK293 Cell Line | EDJ-KQ5909 | Human | 9390 | Details Get a Quote |
| SLC22A13 Knockout HeLa Cell Line | EDJ-KQ55151 | Human | 9390 | Details Get a Quote |
| SLC22A13 Knockout A-549 Cell Line | EDJ-KQ63631 | Human | 9390 | Details Get a Quote |
| SLC22A13 Knockout HCT 116 Cell Line | EDJ-KQ72094 | Human | 9390 | Details Get a Quote |
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