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.

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 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
Displaying Records 1 To 4 Of 4 Records
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