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SLC17A9

Chr 20q13.33

solute carrier family 17 member 9

Aliases:
FLJ23412, VNUT
MANE:
ENST00000370351.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Familial disseminated superficial actinic porokeratosis

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • disseminated superficial actinic porokeratosis

    0.65
  • jaw disease

    0.26
  • nonpapillary renal cell carcinoma

    0.08
  • hepatocellular carcinoma

    0.08
  • neoplasm

    0.08
  • posterior cortical atrophy

    0.07
  • Epidermolysis bullosa simplex with circinate migratory erythema

    0.07
  • epidermolysis bullosa simplex 2E, with migratory circinate erythema

    0.07
  • hyperinsulinism due to INSR deficiency

    0.07
  • hyperinsulinism due to glucokinase deficiency

    0.07

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

Protein function (UniProt)

Voltage-gated purine nucleotide uniporter SLC17A9

Voltage-gated ATP nucleotide uniporter that can also transport the purine nucleotides ADP and GTP. Uses the membrane potential as the driving force to control ATP accumulation in lysosomes and secretory vesicles (PubMed:18375752, PubMed:23467297). By controlling ATP storage in lysosomes, regulates ATP-dependent proteins of these organelles (PubMed:35269509). Also indirectly regulates the exocytosis of ATP through its import into lysosomes in astrocytes and secretory vesicles such as adrenal chromaffin granules, mucin granules and synaptic vesicles (PubMed:18375752, PubMed:23467297)

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.