SLC51B

Chr 15

SLC51 subunit beta

Also known as: OSTB, OSTBETA, PBAM2, SLC51A1BP

NCBI Gene: 123264 ENSG00000186198 UniProt: Q86UW2

Predicted to enable bile acid transmembrane transporter activity and protein heterodimerization activity. Involved in bile acid secretion. Located in basolateral plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBile acid malabsorption, primary, 2

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

1.36

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

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.36LOEUF

pLI 0.245

Z-score 1.19

OE 0.30 (0.10–1.36)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.46Z-score

OE missense 0.84 (0.67–1.05)

54 obs / 64.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.30 (0.10–1.36)

0≤0.351.4

Missense OE?0.84 (0.67–1.05)

0≤0.61.4

Synonymous OE?0.76

0≤1.21.6

LoF obs/exp: 1 / 3.3Missense obs/exp: 54 / 64.3Syn Z: 0.92

Background carrier burden — how many people carry a rare variant somewhere in SLC51B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 500

163 rare PASS variants

Rare truncating (LoF)

1 in 8,400

24 rare PASS variants

Rare synonymous (reference)

1 in 2,100

62 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SLC51B. 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 540	1 in 10,000
South Asian	~43k	1 in 320	≈ 1 in 20,000
Remaining (unassigned)	~30k	1 in 490	≈ 1 in 7,500
European (Finnish)	~27k	1 in 5,300	none seen
Admixed American	~22k	1 in 980	1 in 2,000
African / African American	~21k	1 in 550	1 in 2,900
East Asian	~20k	1 in 360	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 500	none seen
Middle Eastern	~2,884	1 in 200	≈ 1 in 2,900

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): All 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓