SLC22A11

Chr 11

solute carrier family 22 member 11

Also known as: OAT4, hOAT4

NCBI Gene: 55867 ENSG00000168065 UniProt: Q9NSA0 OMIM: 607097

The SLC22A11 protein is a sodium-independent organic anion transporter that mediates renal reabsorption of urate and facilitates placental transport of steroid sulfates and waste products. Mutations cause autosomal recessive renal hypouricemia due to impaired urate handling by the kidneys. This gene shows very low constraint against loss-of-function variants (pLI near zero), which is consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and is found mainly in the kidney and in the placenta, where it may act to prevent potentially harmful organic anions from reaching the fetus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.02

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.02LOEUF

pLI 0.000

Z-score 1.48

OE 0.65 (0.43–1.02)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.24Z-score

OE missense 0.96 (0.88–1.05)

338 obs / 350.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.65 (0.43–1.02)

0≤0.351.4

Missense OE?0.96 (0.88–1.05)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 14 / 21.4Missense obs/exp: 338 / 350.6Syn Z: 0.05

Background carrier burden — how many people carry a rare variant somewhere in SLC22A11?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 61

726 rare PASS variants

Rare truncating (LoF)

1 in 1,900

115 rare PASS variants

Rare synonymous (reference)

1 in 85

326 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SLC22A11. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 76	1 in 2,400
South Asian	~43k	1 in 57	1 in 1,400
Remaining (unassigned)	~30k	1 in 55	1 in 1,600
European (Finnish)	~27k	1 in 190	≈ 1 in 13,000
Admixed American	~22k	1 in 45	1 in 2,800
African / African American	~21k	1 in 56	1 in 690
East Asian	~20k	1 in 77	1 in 440
Ashkenazi Jewish	~13k	1 in 500	1 in 2,200
Middle Eastern	~2,884	1 in 59	1 in 340

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.