SLC22A24

Chr 11

solute carrier family 22 member 24

Also known as: NET46

NCBI Gene: 283238 ENSG00000197658 UniProt: Q8N4F4 OMIM: 611698

The SLC22A24 protein functions as a renal transmembrane organic anion/dicarboxylate exchanger that reabsorbs conjugated steroids and bile acids in the kidney. Mutations cause autosomal recessive hypouricemia, a condition affecting uric acid handling that can lead to exercise-induced acute kidney injury and kidney stones. The gene shows minimal constraint against loss-of-function variants based on population genetics data.

OMIM ResearchSummary from RefSeq, UniProt

SLC22A24 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.46

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.46LOEUF

pLI 0.000

Z-score -0.05

OE 1.01 (0.72–1.46)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.10Z-score

OE missense 0.98 (0.89–1.09)

269 obs / 273.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.01 (0.72–1.46)

0≤0.351.4

Missense OE?0.98 (0.89–1.09)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 21 / 20.8Missense obs/exp: 269 / 273.6Syn Z: -0.69

Background carrier burden — how many people carry a rare variant somewhere in SLC22A24?

gnomAD v4 · ~725k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 52

892 rare PASS variants

Rare truncating (LoF)

1 in 600

125 rare PASS variants

Rare synonymous (reference)

1 in 190

354 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SLC22A24. 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)	~553k	1 in 73	1 in 770
South Asian	~42k	1 in 52	1 in 550
Remaining (unassigned)	~30k	1 in 54	1 in 410
European (Finnish)	~27k	1 in 300	≈ 1 in 8,200
Admixed American	~22k	1 in 58	1 in 190
African / African American	~21k	1 in 65	1 in 270
East Asian	~19k	1 in 57	1 in 640
Ashkenazi Jewish	~13k	1 in 150	≈ 1 in 4,000
Middle Eastern	~2,860	1 in 54	≈ 1 in 710

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.

Exome coverage (gnomAD): 7 of 10 coding exons well covered in gnomAD exomes; exons 1, 2, 10 marginal. Genomes: all 10.? see exons ↓