SLC2A9: Solute Carrier Family 2 Member 9
Urate Transporter and Genetic Link to Gout and Hyperuricemia
Gene Information Card
| Symbol | SLC2A9 |
|---|---|
| Full Name | Solute Carrier Family 2 Member 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 56606 ncbi.nlm.nih.gov/gene/56606 |
| Ensembl ID | ENSG00000109667 |
| UniProt ID | Q9NRM0 |
| OMIM ID | 606142 |
| HGNC ID | 11007 |
| Aliases | GLUT9, GLUTX, UAQTL2 |
Description
SLC2A9 (Solute Carrier Family 2 Member 9) encodes the glucose transporter 9 (GLUT9), a urate transporter primarily expressed in the kidney and liver. It mediates urate reabsorption in the renal proximal tubule and plays a critical role in regulating serum uric acid levels. Genetic variants in SLC2A9 are strongly associated with hyperuricemia and gout susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gout | Loss-of-function variants reduce renal urate excretion, leading to hyperuricemia and gout | OMIM #138900; GWAS meta-analysis (Kottgen et al., 2013) |
| Hyperuricemia | SLC2A9 variants alter urate transport efficiency, increasing serum uric acid levels | OMIM #606142; ClinVar |
| Renal Hypouricemia | Gain-of-function or loss-of-function mutations cause hypouricemia or hyperuricemia respectively | OMIM #220150; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 62.3 | High |
| Liver | 28.1 | Medium |
| Small Intestine | 15.7 | Medium |
| Placenta | 12.4 | Medium |
| Adipose Tissue | 8.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 45.2 | High expression in transfected models |
| HepG2 | 22.5 | Hepatocyte expression |
| HK-2 | 38.7 | Proximal tubule epithelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs16890979 (Val253Ile) | Missense | ~25% in European populations | Reduced urate transport activity |
| rs3733591 (Arg265His) | Missense | ~10% in East Asian populations | Altered urate reabsorption |
| rs11722228 (Intronic) | Intronic | ~30% in African populations | Associated with serum uric acid levels |
Mutation functional classification
Loss of Function (LOF)
rs16890979 (Val253Ile) reduces urate transport capacity, linked to lower serum uric acid and protection against gout.
Gain of Function (GOF)
Not well characterized; some variants may increase urate reabsorption.
Dominant Negative (DN)
Not reported for SLC2A9.
View complete mutation data：
Gene Ontology (GO)
| • monosaccharide transmembrane transporter activity (GO:0015145) | • hexose transmembrane transporter activity (GO:0015149) |
| • urate transmembrane transporter activity (GO:0015143) | • transmembrane transport (GO:0055085) |
| • apical plasma membrane (GO:0016324) | • basolateral plasma membrane (GO:0016323) |
Pathways
• Urate transport in the kidney (Reactome: R-HSA-5619100)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
• Glucose transport (KEGG: hsa04931)
Protein Summary
GLUT9 (UniProt Q9NRM0) is a 540-amino acid transmembrane protein with 12 putative helices. It functions as a high-capacity urate transporter, coupling urate efflux with glucose or fructose influx. Two isoforms exist: GLUT9a (full-length) and GLUT9b (N-terminal truncated). The protein localizes to the basolateral membrane in renal proximal tubule cells, mediating urate exit into the interstitium.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC2A9 Knockout HEK293 Cell Line | EDJ-KQ11971 | Human | 56606 | Details Get a Quote |
| SLC2A9 Knockout A-549 Cell Line | EDJ-KQ40529 | Human | 56606 | Details Get a Quote |
| SLC2A9 Knockout HCT 116 Cell Line | EDJ-KQ40530 | Human | 56606 | Details Get a Quote |
| SLC2A9 Knockout HeLa Cell Line | EDJ-KQ40531 | Human | 56606 | Details Get a Quote |
