SLCO3A1

Chr 15

solute carrier organic anion transporter family member 3A1

Also known as: OATP-D, OATP-RP3, OATP3A1, OATPD, OATPRP3, SLC21A11

NCBI Gene: 28232 ENSG00000176463 UniProt: Q9UIG8 OMIM: 612435

The protein functions as an organic anion transporter with broad substrate specificity, mediating transport of thyroid hormones, prostaglandins, bile acids, and aromatic amino acids across cell membranes. Mutations cause autosomal recessive hypertension with brachydactyly and increased fibroblast growth factor 23, presenting in childhood with elevated blood pressure and shortened fingers or toes. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.442), suggesting some tolerance for reduced protein function.

OMIM ResearchSummary from RefSeq, UniProt

Enables prostaglandin transmembrane transporter activity. Involved in carboxylic acid transport and positive regulation of intracellular signal transduction. Located in apical plasma membrane and basolateral plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.44

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.44LOEUF

pLI 0.390

Z-score 3.72

OE 0.22 (0.12–0.44)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.86Z-score

OE missense 0.62 (0.56–0.68)

277 obs / 447.3 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.22 (0.12–0.44)

0≤0.351.4

Missense OE?0.62 (0.56–0.68)

0≤0.61.4

Synonymous OE?1.10

0≤1.21.6

LoF obs/exp: 6 / 26.8Missense obs/exp: 277 / 447.3Syn Z: -1.12

Background carrier burden — how many people carry a rare variant somewhere in SLCO3A1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 97

862 rare PASS variants

Rare truncating (LoF)

1 in 4,300

66 rare PASS variants

Rare synonymous (reference)

1 in 72

514 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SLCO3A1. 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 120	1 in 3,800
South Asian	~43k	1 in 85	1 in 8,600
Remaining (unassigned)	~30k	1 in 68	1 in 4,900
European (Finnish)	~27k	1 in 310	1 in 2,300
Admixed American	~22k	1 in 110	1 in 3,800
African / African American	~21k	1 in 96	≈ 1 in 4,900
East Asian	~20k	1 in 110	1 in 1,900
Ashkenazi Jewish	~13k	1 in 420	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 120	none seen

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): 9 of 10 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 10.? see exons ↓