ABCB11: Bile Salt Export Pump (BSEP) Gene
ABCB11 encodes the bile salt export pump (BSEP), a critical liver transporter; mutations cause progressive familial intrahepatic cholestasis and other cholestatic disorders.
Gene Information Card
| Symbol | ABCB11 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily B Member 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 8647 ncbi.nlm.nih.gov/gene/8647 |
| Ensembl ID | ENSG00000073734 |
| UniProt ID | O95342 |
| OMIM ID | 603201 |
| HGNC ID | 42 |
| Aliases | BSEP, PFIC2, BRIC2, ABC16, SPGP |
Description
ABCB11 (ATP Binding Cassette Subfamily B Member 11) encodes the bile salt export pump (BSEP), a liver-specific ATP-binding cassette transporter localized to the canalicular membrane of hepatocytes. BSEP mediates the rate-limiting step in bile formation by exporting bile salts from hepatocytes into bile canaliculi. Mutations in ABCB11 cause progressive familial intrahepatic cholestasis type 2 (PFIC2) and benign recurrent intrahepatic cholestasis type 2 (BRIC2).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Progressive Familial Intrahepatic Cholestasis 2 (PFIC2) | Loss-of-function mutations impair bile salt export, leading to intrahepatic cholestasis, jaundice, and liver fibrosis. | ClinVar, OMIM |
| Benign Recurrent Intrahepatic Cholestasis 2 (BRIC2) | Partial loss-of-function mutations cause episodic cholestasis without progressive liver damage. | OMIM, ClinVar |
| Intrahepatic Cholestasis of Pregnancy (ICP) | Heterozygous variants may increase susceptibility to cholestasis during pregnancy. | NCBI Gene, ClinVar |
| Drug-Induced Liver Injury (DILI) | ABCB11 polymorphisms can predispose to cholestatic DILI by reducing BSEP function. | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 45.2 | High |
| Small Intestine | 1.8 | Low |
| Kidney | 0.5 | Not detected |
| Pancreas | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.5 | Hepatocellular carcinoma cell line |
| Huh-7 | 8.9 | Hepatoma cell line |
| Primary Hepatocytes | 35.0 | Normal liver cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1445A>G (p.Asp482Gly) | Missense | Common in PFIC2 | Reduced BSEP expression and transport activity |
| c.890A>G (p.Glu297Gly) | Missense | Found in BRIC2 | Partial loss of function |
| c.386G>A (p.Arg129His) | Missense | Reported in ICP | Impaired bile salt export |
| c.2177G>A (p.Arg726Gln) | Missense | Rare | Decreased protein stability |
Mutation functional classification
Loss of Function (LOF)
Most PFIC2-associated mutations (e.g., p.Asp482Gly) cause complete or severe loss of BSEP transport activity, leading to cholestasis.
Gain of Function (GOF)
No gain-of-function mutations are currently reported for ABCB11.
Dominant Negative (DN)
Some heterozygous missense variants may exert dominant-negative effects by interfering with wild-type BSEP trafficking or function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Bile secretion (KEGG: hsa04976)
• ABC transporters (KEGG: hsa02010)
• Cholestasis (Reactome: R-HSA-975634)
Protein Summary
The bile salt export pump (BSEP) is a 1321-amino acid transmembrane protein with 12 transmembrane domains and two nucleotide-binding domains. It belongs to the ABC transporter family and uses ATP hydrolysis to drive unidirectional export of bile salts across the canalicular membrane. BSEP is essential for maintaining bile flow and preventing toxic accumulation of bile acids in hepatocytes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCB11 Knockout HEK293 Cell Line | EDJ-KQ2032 | Human | 8647 | Details Get a Quote |
| ABCB11 Knockout HeLa Cell Line | EDJ-KQ54969 | Human | 8647 | Details Get a Quote |
| ABCB11 Knockout A-549 Cell Line | EDJ-KQ63451 | Human | 8647 | Details Get a Quote |
| ABCB11 Knockout HCT 116 Cell Line | EDJ-KQ71919 | Human | 8647 | Details Get a Quote |
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