SLC22A11
Solute Carrier Family 22 Member 11
Gene Information Card
| Symbol | SLC22A11 |
|---|---|
| Full Name | Solute Carrier Family 22 Member 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 55867 ncbi.nlm.nih.gov/gene/55867 |
| Ensembl ID | ENSG00000168065 |
| UniProt ID | Q9NSA0 |
| OMIM ID | 607097 |
| HGNC ID | 10972 |
| Aliases | OAT4, hOAT4 |
Description
SLC22A11 encodes the organic anion transporter 4 (OAT4), a member of the solute carrier family 22. OAT4 mediates the sodium-independent transport of organic anions, including urate, and various drugs. It is primarily expressed in the kidney and placenta, playing a key role in renal urate reabsorption and drug disposition.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperuricemia | Reduced urate excretion due to altered OAT4 function | PMID: 19020323 |
| Gout | Impaired renal urate handling via OAT4 | PMID: 19020323 |
| Chronic Kidney Disease | Altered OAT4 expression affects drug clearance | PMID: 22190027 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Placenta | 8.3 | Medium |
| Liver | 2.1 | Low |
| Small Intestine | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | No endogenous expression |
| HK-2 | 15.2 | Proximal tubule cell line |
| BeWo | 9.8 | Placental cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11231825 | SNV | 0.15 (East Asian) | Missense, may alter transport activity |
| rs17300741 | SNV | 0.20 (European) | Intronic, associated with urate levels |
Mutation functional classification
Loss of Function (LOF)
rs11231825 (p.Val149Ile) reduces urate transport in vitro.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not described for SLC22A11.
View complete mutation data：
Gene Ontology (GO)
| • amino acid transmembrane transporter activity (GO:0015171) | • urate transmembrane transporter activity (GO:0015143) |
| • transmembrane transport (GO:0055085) | • apical plasma membrane (GO:0016324) |
Pathways
• Urate transport in kidney (Reactome: R-HSA-5619109)
• Organic anion transport (Reactome: R-HSA-561048)
Protein Summary
OAT4 is a 550-amino acid transmembrane protein with 12 putative transmembrane domains. It functions as an organic anion exchanger, facilitating the uptake of urate and other anions in exchange for intracellular dicarboxylates. Localized to the apical membrane of renal proximal tubule cells and placental syncytiotrophoblasts.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC22A11 Knockout HEK293 Cell Line | EDJ-KQ15302 | Human | 55867 | Details Get a Quote |
| SLC22A11 Knockout HeLa Cell Line | EDJ-KQ56645 | Human | 55867 | Details Get a Quote |
| SLC22A11 Knockout A-549 Cell Line | EDJ-KQ65150 | Human | 55867 | Details Get a Quote |
| SLC22A11 Knockout HCT 116 Cell Line | EDJ-KQ73586 | Human | 55867 | Details Get a Quote |
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