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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC2A9
solute carrier family 2 member 9
Chromosome 4 Β· 4p16.1
NCBI Gene: 56606Ensembl: ENSG00000109667.13HGNC: HGNC:13446UniProt: Q9NRM0
172PubMed Papers
21Diseases
0Drugs
19Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
urate transmembrane transporter activityD-glucose transmembrane transporter activityfructose transmembrane transporter activityfructose transmembrane transporthypouricemia, renal, 2gouthyperuricemiahereditary renal hypouricemia
✦AI Summary

SLC2A9 encodes GLUT9, a high-capacity urate transporter primarily responsible for urate reabsorption in proximal tubule cells 12. The transporter demonstrates markedly greater affinity for urate than glucose, with urate transport rates 45-60 fold faster than glucose 3. While SLC2A9 retains residual glucose and fructose transporter activity, it does not transport galactose or most nucleobases 4. SLC2A9 functions alongside URAT1 (SLC22A12) and ABCG2 to regulate serum urate levels, which critically determines gout susceptibility 15. Genetic variations in SLC2A9 significantly influence gout risk; meta-analyses identified four SNPs associated with disease, with rs3733591 increasing gout susceptibility in Asians, while rs16890979 and rs1014290 provide protection across populations 6. Loss-of-function SLC2A9 mutations cause renal hypouricemia type 2 (OMIM 612076), an autosomal recessive disorder characterized by severely reduced serum urate and increased urinary excretion 7. Beyond urate homeostasis, SLC2A9 polymorphisms associate with oral microbiota composition, suggesting broader physiological roles 8. These findings establish SLC2A9 as a major genetic determinant of plasma uric acid levels and gout development, with therapeutic implications for urate-lowering strategies.

Sources cited
1
SLC2A9 (GLUT9) is a primary serum urate regulator in kidney and gut, with mutations affecting gout susceptibility
PMID: 33798500
2
SLC2A9 identified as major determinant of plasma uric acid levels and gout development
PMID: 20516647
3
Urate transport rates 45-60 fold faster than glucose; SLC2A9 retains residual glucose/fructose transporter activity
PMID: 18842065
4
SLC2A9 does not transport galactose; high-capacity urate transporter for reabsorption
PMID: 28083649
5
GLUT9 encoded by SLC2A9 is best characterized urate transporter in kidney; 8-12% filtered urate excreted
PMID: 32620198
6
Four SLC2A9 SNPs associated with gout; rs3733591 increases susceptibility in Asians; rs16890979 and rs1014290 protective across populations
PMID: 27255295
7
Loss-of-function SLC2A9 mutations cause renal hypouricemia type 2; homozygous mutations cause severe disease
PMID: 30704753
8
SLC2A9 polymorphisms associate with oral microbiota composition
PMID: 34873157
Disease Associationsβ“˜21
hypouricemia, renal, 2Open Targets
0.78Strong
goutOpen Targets
0.61Moderate
hyperuricemiaOpen Targets
0.57Moderate
hereditary renal hypouricemiaOpen Targets
0.38Weak
joint diseaseOpen Targets
0.37Weak
renal tubular transport diseaseOpen Targets
0.37Weak
arthritisOpen Targets
0.35Weak
chronic kidney diseaseOpen Targets
0.34Weak
bladder calculusOpen Targets
0.34Weak
DNA methylationOpen Targets
0.32Weak
cornea transplantationOpen Targets
0.32Weak
musculoskeletal system diseaseOpen Targets
0.31Weak
injuryOpen Targets
0.31Weak
pathological myopiaOpen Targets
0.31Weak
nephrolithiasisOpen Targets
0.30Weak
crystal arthropathyOpen Targets
0.28Weak
ocular hypertensionOpen Targets
0.28Weak
smoking initiationOpen Targets
0.28Weak
cervical carcinomaOpen Targets
0.24Weak
temporomandibular joint disorderOpen Targets
0.23Weak
Hypouricemia renal 2UniProt
Pathogenic Variants19
NM_020041.3(SLC2A9):c.354dup (p.Ile119fs)Pathogenic
Hypouricemia, renal, 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 119
NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg)Pathogenic
Hypouricemia, renal, 2|SLC2A9-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 75
NM_020041.3(SLC2A9):c.374C>T (p.Thr125Met)Likely pathogenic
Hypouricemia, renal, 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 125
NM_020041.3(SLC2A9):c.1292-2A>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_020041.3(SLC2A9):c.1114-2A>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_020041.3(SLC2A9):c.1287del (p.Pro430fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 430
NM_020041.3(SLC2A9):c.944G>A (p.Trp315Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 315
NM_020041.3(SLC2A9):c.372dup (p.Thr125fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 125
NM_020041.3(SLC2A9):c.1557dup (p.Ala520fs)Likely pathogenic
Hypouricemia, renal, 2
β˜…β˜†β˜†β˜†2025β†’ Residue 520
NM_020041.3(SLC2A9):c.681+1G>TLikely pathogenic
SLC2A9-related disorder
β˜…β˜†β˜†β˜†2023
NM_020041.3(SLC2A9):c.1035del (p.Ala346fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 346
NM_020041.3(SLC2A9):c.151-1G>ALikely pathogenic
Hypouricemia, renal, 2
β˜…β˜†β˜†β˜†2021
NM_020041.3(SLC2A9):c.1202C>T (p.Thr401Met)Likely pathogenic
Hypouricemia, renal, 2
β˜†β˜†β˜†β˜†2024β†’ Residue 401
NM_020041.3(SLC2A9):c.570T>G (p.Ser190Arg)Likely pathogenic
Hypouricemia, renal, 2
β˜†β˜†β˜†β˜†2024β†’ Residue 190
NM_020041.3(SLC2A9):c.1343C>T (p.Pro448Leu)Likely pathogenic
Hypouricemia, renal, 2
β˜†β˜†β˜†β˜†2019β†’ Residue 448
NC_000004.12:g.(?_9826223)_(9908346_9920384)delPathogenic
Hypouricemia, renal, 2
β˜†β˜†β˜†β˜†2015
NM_001001290.1(SLC2A9):c.595_727delPathogenic
Hypouricemia, renal, 2
β˜†β˜†β˜†β˜†2010
NM_020041.3(SLC2A9):c.1235C>G (p.Pro412Arg)Pathogenic
Hypouricemia, renal, 2
β˜†β˜†β˜†β˜†2008β†’ Residue 412
NM_020041.3(SLC2A9):c.593G>A (p.Arg198His)Pathogenic
Hypouricemia, renal, 2
β˜†β˜†β˜†β˜†β†’ Residue 198
View on ClinVar β†—
Related Genes
PDZK1Protein interaction88%SLC17A1Protein interaction88%SLC22A6Protein interaction88%ABCG2Protein interaction88%SLC22A11Protein interaction88%SLC22A8Protein interaction86%
Tissue Expression6 tissues
Liver
100%
Lung
36%
Heart
25%
Bone Marrow
23%
Ovary
12%
Brain
8%
Gene Interaction Network
Click a node to explore
SLC2A9PDZK1SLC17A1SLC22A6ABCG2SLC22A11SLC22A8
PROTEIN STRUCTURE
Preparing viewer…
PDB8ZXN Β· 3.06 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.02LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.59–1.02]
RankingsWhere SLC2A9 stands among ~20K protein-coding genes
  • #2,569of 20,598
    Most Researched172 Β· top quartile
  • #2,223of 5,498
    Most Pathogenic Variants19
  • #10,039of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedSLC2A9
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Gout.
PMID: 33798500
Lancet Β· 2021
1.00
2
Uric acid transport and disease.
PMID: 20516647
J Clin Invest Β· 2010
0.90
3
The molecular physiology of uric acid homeostasis.
PMID: 25422986
Annu Rev Physiol Β· 2015
0.80
4
Genetic and Epigenetic Regulation of the Innate Immune Response to Gout.
PMID: 36745138
Immunol Invest Β· 2023
0.72
5
Mouse models for human hyperuricaemia: a critical review.
PMID: 31118497
Nat Rev Rheumatol Β· 2019
0.70