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SLC2A9

Chr 4p16.1

solute carrier family 2 member 9

Aliases:
Glut9, GLUTX, URATv1
MANE:
ENST00000264784.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Nephrocalcinosis or nephrolithiasis

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Renal tubulopathies

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Acute rhabdomyolysis

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Rhabdomyolysis and metabolic muscle disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hypouricemia, renal, 2

    0.78
  • gout

    0.60
  • hyperuricemia

    0.56
  • alcohol drinking

    0.46
  • hereditary renal hypouricemia

    0.39
  • physical activity

    0.38
  • renal tubular transport disease

    0.37
  • arthropathy

    0.36
  • chronic kidney disease

    0.35
  • bladder calculus

    0.35

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Solute carrier family 2, facilitated glucose transporter member 9

High-capacity urate transporter, which may play a role in the urate reabsorption by proximal tubules (PubMed:18327257, PubMed:18701466, PubMed:22647630, PubMed:28083649, PubMed:36749388). May have a residual high-affinity, low-capacity glucose and fructose transporter activity (PubMed:18327257, PubMed:18701466, PubMed:18842065). Transports urate at rates 45- to 60-fold faster than glucose (PubMed:18842065). Does not transport galactose (PubMed:28083649). May mediate small uptake of adenine but not of other nucleobases (PubMed:22647630)

Curated MONDO disease pages that list SLC2A9 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.