ABCB11

Chr 2AR

ATP binding cassette subfamily B member 11

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

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 0.642 OMIM phenotypes
Clinical SummaryABCB11
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
208 unique Pathogenic / Likely Pathogenic· 513 VUS of 1022 total submissions
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Clinical Trials
3 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.64LOEUF
pLI 0.000
Z-score 3.95
OE 0.47 (0.350.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.11Z-score
OE missense 0.88 (0.830.94)
631 obs / 714.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.47 (0.350.64)
00.351.4
Missense OE?0.88 (0.830.94)
00.61.4
Synonymous OE?1.15
01.21.6
LoF obs/exp: 31 / 65.6Missense obs/exp: 631 / 714.3Syn Z: -1.80
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveABCB11-related intrahepatic cholestasisLOFAR

This gene — mechanism propensity

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

1022 submitted variants in ClinVar

Classification Summary

Pathogenic116
Likely Pathogenic92
VUS513
Likely Benign153
Benign31
Conflicting114
116
Pathogenic
92
Likely Pathogenic
513
VUS
153
Likely Benign
31
Benign
114
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
109
6
1
0
116
Likely Pathogenic
54
29
9
0
92
VUS
5
443
45
20
513
Likely Benign
0
10
79
64
153
Benign
0
1
20
10
31
Conflicting
114
Total168489154941,019

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

View in ClinVar →

8 pathogenic / likely-pathogenic (of 10) ClinVar copy-number / structural variants overlap ABCB11 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

ABCB11 · protein map & ClinVar variants

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