ABCB11

Chr 2AR

ATP binding cassette subfamily B member 11

Also known as: ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP

NCBI Gene: 8647ENSG00000073734UniProt: O95342OMIM: 603201

This gene encodes the bile salt export pump, which transports bile salts across the canalicular membrane of hepatocytes in an ATP-dependent manner and is essential for hepatic bile acid homeostasis. Mutations cause progressive familial intrahepatic cholestasis type 2 and benign recurrent intrahepatic cholestasis type 2, both presenting with severe cholestatic liver disease that can manifest from early infancy. The inheritance pattern is autosomal recessive.

GeneReviewsOMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.642 OMIM phenotypes
Clinical Summary— ABCB11
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
72 unique Pathogenic / Likely Pathogenic· 114 VUS of 199 total submissions
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Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
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GeneReview available — ABCB11
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.64LOEUF
pLI 0.000
Z-score 3.95
OE 0.47 (0.35–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.11Z-score
OE missense 0.88 (0.83–0.94)
631 obs / 714.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.47 (0.35–0.64)
0≤0.351.4
Missense OE0.88 (0.83–0.94)
0≤0.61.4
Synonymous OE1.15
0≤1.21.6
LoF obs/exp: 31 / 65.6Missense obs/exp: 631 / 714.3Syn Z: -1.80
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveABCB11-related intrahepatic cholestasisLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.83top 10%
GOF
0.81top 10%
LOF
0.1993th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

199 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic51
Likely Pathogenic21
VUS114
Likely Benign5
Benign8
51
Pathogenic
21
Likely Pathogenic
114
VUS
5
Likely Benign
8
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
49
1
1
0
51
Likely Pathogenic
11
4
6
0
21
VUS
2
100
10
2
114
Likely Benign
0
0
1
4
5
Benign
0
0
8
0
8
Total62105266199

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ABCB11 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Case Report: Sustained biochemical remission following early initiation of odevixibat in an infant with monoallelic ABCB11 mutation and histologically confirmed PFIC2.
Kehler T et al.·Front Pediatr
2025Open AccessCase report
Association of Gallstone and Polymorphisms of ABCB11 Gene among the Adult Patients in Iran: A Case Control Study : Gallstone and ABCB11 Gene.
Yektamoghaddam S et al.·Galen Med J
2025Cohort
Loss of Bile Salt Export Pump (Bsep/Abcb11) Ameliorates Toxin-induced Hepatic Fibrosis via Suppression of Hepatocellular Jun Amino-terminal Kinase Signaling and Hepatic Stellate Cell Activation.
Fuchs CD et al.·Cell Mol Gastroenterol Hepatol
2026Open Access
[Genetic analysis of a child with Progressive familial intrahepatic cholestasis type II due to a homozygous variant of ABCB11 gene].
Zhu W et al.·Zhonghua Yi Xue Yi Chuan Xue Za Zhi
2025
An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.
Bell EL et al.·J Lipid Res
2025Open AccessFunctional
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients