SLC17A2

Chr 6

solute carrier family 17 member 2

Also known as: NPT3

NCBI Gene: 10246ENSG00000112337UniProt: Q06495

Predicted to enable urate transmembrane transporter activity. Predicted to be involved in phosphate-containing compound metabolic process and sodium ion transport. Predicted to be located in plasma membrane. Predicted to be active in apical plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNephrolithiasis/osteoporosis, hypophosphatemic, 1
UniProtFanconi renotubular syndrome 2
UniProtHypercalcemia, infantile, 2
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.90
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.90LOEUF
pLI 0.000
Z-score 1.93
OE 0.57 (0.37–0.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.46Z-score
OE missense 0.73 (0.65–0.83)
174 obs / 237.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.37–0.90)
0≤0.351.4
Missense OE?0.73 (0.65–0.83)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 13 / 23.0Missense obs/exp: 174 / 237.4Syn Z: -0.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC17A2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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