SLC17A3

Chr 6

solute carrier family 17 member 3

Also known as: GOUT4, NPT4, UAQTL4

The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.48
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.48LOEUF
pLI 0.000
Z-score -0.49
OE 1.10 (0.821.48)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.30Z-score
OE missense 1.05 (0.951.16)
272 obs / 258.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.10 (0.821.48)
00.351.4
Missense OE?1.05 (0.951.16)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 31 / 28.2Missense obs/exp: 272 / 258.5Syn Z: -0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC17A3 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →