SLC2A9

Chr 4ADAR

solute carrier family 2 member 9

Also known as: GLUT9, GLUTX, UAQTL2, URATv1

NCBI Gene: 56606ENSG00000109667UniProt: Q9NRM0OMIM: 606142

The protein functions as a high-capacity urate transporter involved in uric acid reabsorption by kidney proximal tubules, with residual glucose and fructose transport activity. Mutations cause hypouricemia, renal, 2, characterized by abnormally low serum uric acid levels due to impaired renal uric acid handling. Inheritance can be either autosomal dominant or autosomal recessive.

OMIMResearchSummary from RefSeq, OMIM, UniProt
MultiplemechanismAD/ARLOEUF 1.142 OMIM phenotypes
Clinical Summary— SLC2A9
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
82 unique Pathogenic / Likely Pathogenic· 183 VUS of 441 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.14LOEUF
pLI 0.000
Z-score 1.05
OE 0.76 (0.52–1.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.12Z-score
OE missense 1.02 (0.93–1.12)
305 obs / 299.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.76 (0.52–1.14)
0≤0.351.4
Missense OE1.02 (0.93–1.12)
0≤0.61.4
Synonymous OE1.21
0≤1.21.6
LoF obs/exp: 17 / 22.4Missense obs/exp: 305 / 299.0Syn Z: -1.90
DN
0.80top 10%
GOF
0.77top 25%
LOF
0.2092th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

441 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic70
Likely Pathogenic12
VUS183
Likely Benign97
Benign71
Conflicting8
70
Pathogenic
12
Likely Pathogenic
183
VUS
97
Likely Benign
71
Benign
8
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
2
66
0
70
Likely Pathogenic
5
5
2
0
12
VUS
2
136
37
8
183
Likely Benign
1
8
44
44
97
Benign
0
11
50
10
71
Conflicting
—8
Total1016219962441

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SLC2A9 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
A potential association of SLC2A9 variant rs7442295 with uric acid at baseline and in interaction with iloperidone.
Smieszek SP et al.·Pharmacogenomics J
2026Open Access
Mendelian Randomization Identified SLC2A9 as a Novel cis-eQTL-Mediated Susceptibility Gene in Suppressing Renal Cancer and Its Related Metabolic Mechanisms.
Wang Y et al.·Mediators Inflamm
2026Functional
Renal Hypouricemia Type 2 due to a Novel Homozygous SLC2A9 Variant: Exercise-Induced Acute Kidney Injury in One of Two Affected Siblings.
Pezantes I et al.·Nephrology (Carlton)
2026
Association of single-nucleotide polymorphisms in SLC2A9, SLC22A12 and SLC22A11 genes with hyperuricemia in the Chinese Tibetan population.
Li RX et al.·Medicine (Baltimore)
2025Open Access
Prevalence of the SOD1, PRCD and SLC2A9 gene mutations responsible for degenerative myelopathy, progressive rod-cone degeneration, and hyperuricosuria in Polish population of Labrador Retriever dogs.
Rogalska-Niznik N et al.·Pol J Vet Sci
2025
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients