SLC22A10

Chr 11

solute carrier family 22 member 10 (gene/pseudogene)

Also known as: OAT5, hOAT5

NCBI Gene: 387775 ENSG00000184999 UniProt: Q63ZE4 OMIM: 607580

The protein functions as a transmembrane transporter involved in organic anion transport across cellular membranes. Mutations cause autosomal recessive renal hypouricemia, a disorder affecting kidney function and uric acid handling. The gene shows low constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in associated disease.

OMIM ResearchSummary from RefSeq

Predicted to enable transmembrane transporter activity. Predicted to be involved in organic anion transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.54

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.54LOEUF

pLI 0.000

Z-score -0.55

OE 1.12 (0.82–1.54)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.83Z-score

OE missense 1.14 (1.04–1.24)

339 obs / 298.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.12 (0.82–1.54)

0≤0.351.4

Missense OE?1.14 (1.04–1.24)

0≤0.61.4

Synonymous OE?1.26

0≤1.21.6

LoF obs/exp: 27 / 24.1Missense obs/exp: 339 / 298.4Syn Z: -2.07

Background carrier burden — how many people carry a rare variant somewhere in SLC22A10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 51

820 rare PASS variants

Rare truncating (LoF)

1 in 270

128 rare PASS variants

Rare synonymous (reference)

1 in 190

293 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SLC22A10. 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 87	1 in 220
South Asian	~43k	1 in 52	1 in 320
Remaining (unassigned)	~30k	1 in 46	1 in 470
European (Finnish)	~27k	1 in 310	1 in 1,700
Admixed American	~22k	1 in 52	1 in 280
African / African American	~21k	1 in 55	1 in 340
East Asian	~20k	1 in 87	1 in 370
Ashkenazi Jewish	~13k	1 in 930	1 in 360
Middle Eastern	~2,884	1 in 48	1 in 410

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 10 coding exons well covered in gnomAD exomes and genomes.? see exons ↓