ABCB11

Summary

ABCB11 (ATP binding cassette subfamily B member 11, HGNC:42) is a protein-coding gene on chromosome 2q31.1, encoding Bile salt export pump (O95342). Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates in hepatic bile acid homeostasis and consequently to lipid homeostasi….

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.

Source: NCBI Gene 8647 — RefSeq curated summary.

At a glance

• Gene–disease (curated): progressive familial intrahepatic cholestasis type 2 (Definitive, GenCC) — +2 more curated relationships
• GWAS associations: 38
• Clinical variants (ClinVar): 2,199 total — 197 pathogenic, 135 likely-pathogenic
• Phenotypes (HPO): 47
• Druggable target: yes — 327 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_003742

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:42
Approved symbol	ABCB11
Name	ATP binding cassette subfamily B member 11
Location	2q31.1
Locus type	gene with protein product
Status	Approved
Aliases	ABC16, SPGP, PFIC-2, PGY4
Ensembl gene	ENSG00000073734
Ensembl biotype	protein_coding
OMIM	603201
Entrez	8647

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000439188, ENST00000478354, ENST00000647920, ENST00000648875, ENST00000649448, ENST00000650372, ENST00000858971, ENST00000858972, ENST00000858973

RefSeq mRNA: 1 — MANE Select: NM_003742 NM_003742

CCDS: CCDS46444

Canonical transcript exons

ENST00000618180 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 125 present calls, max score 95.52.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1329 / max 46.0029, expressed in 11 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
31721	0.1253	8
31720	0.0076	3

Top tissues by expression

136 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	95.52	gold quality
liver	UBERON:0002107	95.04	gold quality
thymus	UBERON:0002370	82.29	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.75	silver quality
cerebellar vermis	UBERON:0004720	79.46	gold quality
quadriceps femoris	UBERON:0001377	77.38	gold quality
mucosa of transverse colon	UBERON:0004991	72.61	gold quality
testis	UBERON:0000473	70.66	gold quality
left testis	UBERON:0004533	70.07	gold quality
subcutaneous adipose tissue	UBERON:0002190	69.33	gold quality
right testis	UBERON:0004534	68.89	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	68.25	gold quality
transverse colon	UBERON:0001157	66.04	gold quality
adipose tissue	UBERON:0001013	63.56	gold quality
islet of Langerhans	UBERON:0000006	62.25	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	58.95	silver quality
ventricular zone	UBERON:0003053	58.87	gold quality
adrenal tissue	UBERON:0018303	57.64	gold quality
skin of leg	UBERON:0001511	56.96	gold quality
omental fat pad	UBERON:0010414	56.52	gold quality
zone of skin	UBERON:0000014	56.08	gold quality
colon	UBERON:0001155	55.48	gold quality
skin of abdomen	UBERON:0001416	54.77	gold quality
ganglionic eminence	UBERON:0004023	54.65	gold quality
colonic epithelium	UBERON:0000397	54.50	gold quality
thoracic mammary gland	UBERON:0005200	54.50	gold quality
sural nerve	UBERON:0015488	54.20	silver quality
rectum	UBERON:0001052	53.98	gold quality
lymph node	UBERON:0000029	53.74	gold quality
intestine	UBERON:0000160	52.10	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-8060	yes	106.66
E-MTAB-8142	yes	47.71
E-HCAD-10	yes	16.47
E-CURD-135	no	985.04
E-GEOD-124858	no	6.41
E-ANND-3	no	5.15

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, ESR1, NFE2L2, NR1H4, NR5A2, RXRA, TCF3

miRNA regulators (miRDB)

51 targeting ABCB11, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-4493	99.90	66.48	977

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• P-gp is monomeric in both the presence and absence of detergents (PMID:11495894)
• P-gp is not functionally expressed or active in monocyte-derived dendritic cells in vitro, compared to MRP. (PMID:11600213)
• responsible for a subgroup of infants and children with progressive familial cholestasis (OFIC-2) (PMID:11745042)
• Data suggest that P-gp expression in tumor cells are related to drug resistance in epithelial ovarian cancer. (PMID:11783115)
• p38(MAPK) regulates BSEP trafficking from Golgi to canalicular membrane, and Golgi may serve as BSEP pool in certain forms of cholestasis or when p38(MAPK) activity is inhibited. Activation of p38(MAPK) can recruit Golgi-associated BSEP. (PMID:14762791)
• Data do not support a strong role of BSEP and MDR3 genetic variations in the pathogenesis of primary biliary cirrhosis and primary sclerosing cholangitis. (PMID:14999697)
• HAX-1 binds bile salt export protein (BSEP), cortactin, MDR1, and MDR2. HAX-1 and cortactin regulate BSEP abundance in the apical membrane of cells. (PMID:15159385)
• Mutations in ABCB11 are associated with BRIC, and consistent with the genetic classification of PFIC into 2 subtypes, we propose that this disorder be named BRIC type 2. (PMID:15300568)
• studies provide evidence that farnesoid X-receptor(FXR) directly recruits specific chromatin modifying activity of co-activator-associated arginine methyltransferase 1 (CARM1) necessary for full potentiation of bile salt export pump (BSEP) locus in vivo (PMID:15471871)
• PFIC2 mutations E297G and D482G result in impaired membrane trafficking, whereas the transport functions of these mutants remain largely unchanged. (PMID:15791618)
• Functional characterization of novel ABCB11 mutations encountered in two patients with intrahepatic cholestasis. (PMID:16039748)
• Functional characterization of novel ABCB11 mutations encountered in two patients with intrahepatic cholestasis. (PMID:16290310)
• An “in vitro” high-speed screening method followed by QSAR analysis was developped to investigate ABCB11-drugs interactions and predict compounds with a risk of drug-induced intrahepatic cholestasis. (PMID:16749857)
• PFIC associated with BSEP deficiency represents a previously unrecognized risk for HCC in young children. Immunohistochemical evidence of BSEP deficiency correlates well with demonstrable mutation in ABCB11. (PMID:16871584)
• The common BSEP polymorphism V444A accounts for the reduced canalicular BSEP expression. (PMID:16890614)
• The gallstone trait is not allelic to progressive familial cholestasis at the ABCB11 locus. (PMID:16941683)
• role of ABCB11 mutations and polymorphisms in drug-induced cholestasis. (PMID:17264802)
• role for the ABCB11 1331T>C polymorphism as a susceptibility factor for the development of estrogen-induced cholestasis (PMID:18176959)
• The bile salt export pump (BSEP) is responsible for the canalicular secretion of bile acids. (PMID:18270374)
• BSEP deficiency confers risk of hepatobiliary malignancy. Close surveillance of BSEP-deficient patients retaining their native liver, particularly those carrying 2 null mutations, is essential. (PMID:18395098)
• Genetic Polymorphisms of the G6PC2 gene may underlie variation in fasting blood glucose levels, and genetic Polymorphisms of the ABCB11 gene may also contribute to such variation. (PMID:18521185)
• dysfunction, and impaired adaptive responses of several of the bile acid transporters, e.g. BSEP and ASBT, results in liver and intestinal disease (PMID:18668439)
• data suggest that a significant but not total loss of BSEP function plays a considerable role in susceptibility to intrahepatic cholestasis of pregnancy. (PMID:18987030)
• Results will help to develop mutation-specific therapies for children and adults suffering from intrahepatic cholestasis due to ABCB11 deficiency. (PMID:19101985)
• The results do not support the hypothesis of a link between ABCB4 and ABCB11 polymorphisms, lithogenic dyslipidemia, and gallstone risk. (PMID:19408031)
• Fifty-nine genetic variations, including 19 novel ones, were found in a Japanese population: 14 in the coding exons (6 nonsynonymous and 8 synonymous variations), 4 in the 3’-UTR, and 41 in the introns. (PMID:19571440)
• The common rs560887 G allele in the G6PC2/ABCB11 locus is associated with increased fasting glycaemia and increased risk of IFG, associations that may be partly related to an increased basal hepatic glucose production rate. (PMID:19669124)
• Nrf2 is a positive transcriptional regulator of human bile salt export pump (BSEP) expression. (PMID:19821532)
• Ku proteins decreased the promoter activity and expression of BSEP gene mediated by FXR. (PMID:19833092)
• ABCB11 gene mutations play an important role in Chinese patients with progressive intrahepatic cholestasis and low gammaglutamyltransferase. (PMID:19845854)
• Examined the associations between 21 single nucleotide polymorphisms (SNPs) of eight lipid metabolism genes and lipid levels in a Chinese population. ABCB11 rs49550 was associated with total cholesterol, triglycerides, and apoA. (PMID:19888660)
• Fasting glucose association at ABCB11 is replicable across ethnic groups, although ethnic diversity in the pattern and strength of linkage disequilibrium exists. (PMID:19937311)
• functionally relevant SNPSs may be of potential relevance in the predisposition to acquired liver disorders such as drug-induced cholestasis (PMID:20010382)
• polymorphism in the gene coding for BSEP has been identified as a potential susceptibility factor for acquired cholestasis-{REVIEW} (PMID:20028269)
• The inhibition of BSEP/Bsep resulted in significantly higher intracellular TC(conc) in humans than in rats. (PMID:20147439)
• Data suggest that variations in canalicular transporters ABCB11 and ABCB4, known to contribute to genetic predisposition to cholesterol gallstones in adulthood, do not contribute specifically to the aetiology of paediatric idiopathic gallstones. (PMID:20163776)
• Progressive familial intrahepatic cholestasis types 1 & 2 differ clinically, biochemically, and histologically at presentation and/or during the disease course. A small proportion of normal-GGT PFIC is likely not due to ATP8B1 or ABCB11 mutations. (PMID:20232290)
• Data identified three novel mutations in BSEP, one novel mutation in MDR3, and one heterozygous mutation in ATP8B1 in PFIC patients. (PMID:20414253)
• facilitating diagnosis and elucidating the differing consequences of ATP8B1 and ABCB11 mutations in progressive familial intrahepatic cholestasis (PMID:20447715)
• Sequence analysis of the genes identified 27% cholestasis subjects with missense, nonsense, deletion, and splice site variants associated with disease phenotypes based on the type of mutation in the JAG1, ATP8B1, ABCB11, or ABCB4 genes. (PMID:20683201)

Cross-species orthologs

12 orthologs

Organism	Symbol	Gene ID
danio_rerio	abcb11b	ENSDARG00000070078
mus_musculus	Abcb11	ENSMUSG00000027048
rattus_norvegicus	Abcb11	ENSRNOG00000050860
caenorhabditis_elegans		WBGENE00001817
caenorhabditis_elegans		WBGENE00001818
caenorhabditis_elegans		WBGENE00003995
caenorhabditis_elegans		WBGENE00004000
caenorhabditis_elegans		WBGENE00004001
caenorhabditis_elegans		WBGENE00004002
caenorhabditis_elegans		WBGENE00004003
caenorhabditis_elegans		WBGENE00004006
caenorhabditis_elegans		WBGENE00004008

Paralogs (10): ABCB5 (ENSG00000004846), ABCB4 (ENSG00000005471), ABCB1 (ENSG00000085563), ABCB6 (ENSG00000115657), ABCB7 (ENSG00000131269), ABCB10 (ENSG00000135776), ABCB9 (ENSG00000150967), TAP1 (ENSG00000168394), ABCB8 (ENSG00000197150), TAP2 (ENSG00000204267)

Protein

Protein identifiers

Bile salt export pump — O95342 (reviewed: O95342)

Alternative names: ATP-binding cassette sub-family B member 11

All UniProt accessions (5): O95342, A0A3B3IS78, A0A3B3ISD4, A0A3B3ITV9, H7C486

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates in hepatic bile acid homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner. Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts. Also transports non-bile acid compounds, such as pravastatin and fexofenadine in an ATP-dependent manner and may be involved in their biliary excretion.

Subunit / interactions. Interacts with HAX1. Interacts with the adapter protein complex 2 (AP-2) throught AP2A2 or AP2A1; this interaction regulates cell membrane expression of ABCB11 through its internalization in a clathrin-dependent manner and its subsequent degradation.

Subcellular location. Apical cell membrane. Recycling endosome membrane. Endosome. Cell membrane.

Tissue specificity. Expressed predominantly, if not exclusively in the liver, where it was further localized to the canalicular microvilli and to subcanalicular vesicles of the hepatocytes by in situ.

Post-translational modifications. N-glycosylated. Ubiquitinated; short-chain ubiquitination regulates cell-Surface expression of ABCB11.

Disease relevance. Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC2 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. The uptake of taurocholate is inhibited by taurolithocholate sulfate with an IC(50) of 9 uM. Pravastatin competitively inhibits the transport of taurocholic acid. Cyclosporin A, glibenclamide, rifampicin and troglitazonestrongly competitively inhibit the transport activity of taurocholate. The canalicular transport activity of taurocholate is strongly dependent on canalicular membrane cholesterol content. The uptake of taurocholate is increased by short- and medium-chain fatty acids. Cholesterol increases transport capacity of taurocholate without affecting the affinity for the substrate.

Domain organisation. Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.

Similarity. Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.

RefSeq proteins (1): NP_003733* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003439	ABC_transporter-like_ATP-bd	Domain
IPR003593	AAA+_ATPase	Domain
IPR011527	ABC1_TM_dom	Domain
IPR017871	ABC_transporter-like_CS	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036640	ABC1_TM_sf	Homologous_superfamily
IPR039421	Type_1_exporter	Family

Pfam: PF00005, PF00664

Catalyzed reactions (Rhea), 10 shown:

• cholate(in) + ATP + H2O = cholate(out) + ADP + phosphate + H(+) (RHEA:50048)
• taurocholate(in) + ATP + H2O = taurocholate(out) + ADP + phosphate + H(+) (RHEA:50052)
• glycocholate(in) + ATP + H2O = glycocholate(out) + ADP + phosphate + H(+) (RHEA:50056)
• glycochenodeoxycholate(in) + ATP + H2O = glycochenodeoxycholate(out) + ADP + phosphate + H(+) (RHEA:50060)
• taurochenodeoxycholate(in) + ATP + H2O = taurochenodeoxycholate(out) + ADP + phosphate + H(+) (RHEA:50064)
• glycoursodeoxycholate(in) + ATP + H2O = glycoursodeoxycholate(out) + ADP + phosphate + H(+) (RHEA:50068)
• tauroursodeoxycholate(in) + ATP + H2O = tauroursodeoxycholate(out) + ADP + phosphate + H(+) (RHEA:50072)
• taurodeoxycholate(in) + ATP + H2O = taurodeoxycholate(out) + ADP + phosphate + H(+) (RHEA:50080)
• taurolithocholate 3-sulfate(in) + ATP + H2O = taurolithocholate 3-sulfate(out) + ADP + phosphate + H(+) (RHEA:50084)
• pravastatin(in) + ATP + H2O = pravastatin(out) + ADP + phosphate + H(+) (RHEA:63908)

UniProt features (191 total): helix 53, sequence variant 44, strand 34, topological domain 12, transmembrane region 12, turn 11, modified residue 7, domain 4, glycosylation site 4, region of interest 3, binding site 2, mutagenesis site 2, chain 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
9EGE	ELECTRON MICROSCOPY	2.8
8PMJ	ELECTRON MICROSCOPY	2.81
8PMD	ELECTRON MICROSCOPY	2.95
8PM6	ELECTRON MICROSCOPY	3.22
9N1Y	ELECTRON MICROSCOPY	3.23
6LR0	ELECTRON MICROSCOPY	3.5
7E1A	ELECTRON MICROSCOPY	3.66
7DV5	ELECTRON MICROSCOPY	3.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95342-F1	83.23	0.51

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (2): 455–462; 1113–1120

Post-translational modifications (7): 586, 587, 690, 701, 704, 1214, 1321

Glycosylation sites (4): 109, 116, 122, 125

Mutagenesis-validated functional residues (2):

Position	Phenotype
1–441	does not affect atpase-coupled bile acid transport activity. decreases protein stability.
1311	loss of interaction with ap2a1 and ap2a2. promotes abcb11 plasma membrane trafficking. does not affect plasma membrane l

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-159418	Recycling of bile acids and salts
R-HSA-193368	Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-5678520	Defective ABCB11 causes PFIC2 and BRIC2
R-HSA-1430728	Metabolism
R-HSA-1643685	Disease
R-HSA-192105	Synthesis of bile acids and bile salts
R-HSA-194068	Bile acid and bile salt metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-5619084	ABC transporter disorders
R-HSA-5619115	Disorders of transmembrane transporters
R-HSA-8957322	Metabolism of steroids

MSigDB gene sets: 250 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_LIPID_MODIFICATION, FXR_IR1_Q6, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_ACID_SECRETION, GOBP_REGULATION_OF_ORGANIC_ACID_TRANSPORT, GOBP_STEROL_HOMEOSTASIS, GOCC_CELL_SURFACE, GOBP_XENOBIOTIC_TRANSMEMBRANE_TRANSPORT, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_TRANSPORT, KEGG_ABC_TRANSPORTERS, GOBP_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS

GO Biological Process (17): fatty acid metabolic process (GO:0006631), bile acid biosynthetic process (GO:0006699), xenobiotic metabolic process (GO:0006805), xenobiotic transmembrane transport (GO:0006855), bile acid metabolic process (GO:0008206), bile acid and bile salt transport (GO:0015721), canalicular bile acid transport (GO:0015722), protein ubiquitination (GO:0016567), regulation of fatty acid beta-oxidation (GO:0031998), cholesterol homeostasis (GO:0042632), xenobiotic export from cell (GO:0046618), transmembrane transport (GO:0055085), lipid homeostasis (GO:0055088), phospholipid homeostasis (GO:0055091), positive regulation of bile acid secretion (GO:0120189), obsolete regulation of bile acid metabolic process (GO:1904251), lipid transport (GO:0006869)

GO Molecular Function (10): ATP binding (GO:0005524), ABC-type xenobiotic transporter activity (GO:0008559), bile acid transmembrane transporter activity (GO:0015125), canalicular bile acid transmembrane transporter activity (GO:0015126), ABC-type bile acid transporter activity (GO:0015432), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), lipid carrier activity (GO:0005319), protein binding (GO:0005515), ABC-type transporter activity (GO:0140359)

GO Cellular Component (11): endosome (GO:0005768), plasma membrane (GO:0005886), cell surface (GO:0009986), apical plasma membrane (GO:0016324), intercellular canaliculus (GO:0046581), intracellular canaliculus (GO:0046691), recycling endosome (GO:0055037), recycling endosome membrane (GO:0055038), extracellular exosome (GO:0070062), membrane (GO:0016020), apical part of cell (GO:0045177)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Bile acid and bile salt metabolism	2
Synthesis of bile acids and bile salts	1
ABC transporter disorders	1
Metabolism of steroids	1
Metabolism	1
Disorders of transmembrane transporters	1
Disease	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
monocarboxylic acid metabolic process	2
xenobiotic transport	2
transmembrane transport	2
bile acid and bile salt transport	2
transport	2
ABC-type transporter activity	2
bile acid transmembrane transporter activity	2
lipid metabolic process	1
bile acid metabolic process	1
monocarboxylic acid biosynthetic process	1
metabolic process	1
cellular response to xenobiotic stimulus	1
steroid metabolic process	1
lipid transport	1
monocarboxylic acid transport	1
organic hydroxy compound transport	1
secretion	1
protein modification by small protein conjugation	1
fatty acid beta-oxidation	1
regulation of fatty acid oxidation	1
regulation of lipid catabolic process	1
sterol homeostasis	1
export from cell	1
cellular process	1
chemical homeostasis	1
lipid homeostasis	1
bile acid secretion	1
positive regulation of organic acid transport	1
positive regulation of secretion	1
regulation of bile acid secretion	1
lipid localization	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
xenobiotic transmembrane transporter activity	1
carboxylic acid transmembrane transporter activity	1
lipid transmembrane transporter activity	1
canalicular bile acid transport	1
ATPase-coupled carboxylic acid transmembrane transporter activity	1
ATPase-coupled lipid transmembrane transporter activity	1

Protein interactions and networks

STRING

2386 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABCB11	ATP8B1	O43520	990
ABCB11	NR1H4	Q96RI1	944
ABCB11	NR0B2	Q15466	925
ABCB11	CYP7A1	P22680	925
ABCB11	SLC10A1	Q14973	890
ABCB11	FABP6	P51161	886
ABCB11	NR1I2	O75469	820
ABCB11	SLC51A	Q86UW1	808
ABCB11	CYP8B1	Q9UNU6	805
ABCB11	SLC10A2	Q12908	802
ABCB11	SLCO1B1	Q9Y6L6	800
ABCB11	SLC51B	Q86UW2	787
ABCB11	SLCO1B3	Q9NPD5	779
ABCB11	SLCO1A2	P46721	774
ABCB11	CYP27A1	Q02318	721

IntAct

8 interactions, top by confidence:

A	B	Type	Score
ABCB11	DDIT4L	psi-mi:“MI:0915”(physical association)	0.560
ABCB11	H3C13	psi-mi:“MI:0915”(physical association)	0.400
ABCB11	LY6D	psi-mi:“MI:0915”(physical association)	0.370
NR4A1	ABCB11	psi-mi:“MI:0915”(physical association)	0.370
	PLOD2	psi-mi:“MI:0914”(association)	0.350
ABCB11	DDIT4L	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): DDIT4L (Two-hybrid), ABCB11 (Proximity Label-MS), ABCB11 (Affinity Capture-MS), ABCB11 (Affinity Capture-MS), ABCB11 (Affinity Capture-MS), ABCB11 (Affinity Capture-MS), ABCB11 (Cross-Linking-MS (XL-MS)), ABCB11 (Cross-Linking-MS (XL-MS)), NR4A1 (Two-hybrid), LY6D (Two-hybrid), AP2A1 (Affinity Capture-Western), Ap2a1 (Reconstituted Complex), Ap2m1 (Reconstituted Complex)

ESM2 similar proteins: A0A059JJ46, A0A059JK44, A0A095C325, A0A0D1BUH6, A0A0D1CZ63, A0A1U8QG99, A0A1U8QTJ9, A0A1U9YI12, A0A2P1AAV1, A0A348AXX9, B2KWH4, F2PRR1, F2Q5G0, F2RP52, F2RPA4, F2SQT8, F2T1C4, G5EG61, H6TB12, J9VF33, K3VYH8, O70127, O95342, P0CU83, P16876, P16877, P34712, P34713, P36619, Q00449, Q00748, Q06034, Q4WA92, Q4WD46, Q4WSI1, Q4WTT9, Q54JR2, Q5BAY0, Q6Q876, Q6YUU5

Diamond homologs: A0A059JJ46, A0A059JK44, A0A095C325, A0A0D1BUH6, A0A1U8QG99, A0A1U9YI12, A0A2P1AAV1, A0A348AXX9, A1KF14, B2GUP8, B2KWH4, B5X0E4, B8K1W2, F2PRR1, F2Q5G0, F2RP52, F2RPA4, F2SQT8, F2T1C4, G5EG61, H6TB12, J9VF33, K3VYH8, O53645, O70127, O80725, O95342, P06795, P08183, P0CU83, P16875, P16876, P16877, P21439, P21440, P21447, P21448, P21449, P23174, P34712

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

2199 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	197
Likely pathogenic	135
Uncertain significance	675
Likely benign	785
Benign	134

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1028652	NM_003742.4(ABCB11):c.2488del (p.Arg830fs)	Pathogenic
1070101	NM_003742.4(ABCB11):c.2437C>T (p.Gln813Ter)	Pathogenic
1072770	NM_003742.4(ABCB11):c.793A>T (p.Lys265Ter)	Pathogenic
1074827	NM_003742.4(ABCB11):c.2178+1G>C	Pathogenic
1076790	NM_003742.4(ABCB11):c.3491del (p.Val1164fs)	Pathogenic
1408853	NM_003742.4(ABCB11):c.2561del (p.Pro854fs)	Pathogenic
1410817	NM_003742.4(ABCB11):c.3703C>T (p.Arg1235Ter)	Pathogenic
1414374	NM_003742.4(ABCB11):c.532del (p.Tyr178fs)	Pathogenic
1427966	NM_003742.4(ABCB11):c.3401_3402insTAGAAGGTGGTAAGCCTTCTATGATCCTGATCA (p.Gln1134delinsHisArgArgTrpTer)	Pathogenic
1433215	NM_003742.4(ABCB11):c.483C>A (p.Cys161Ter)	Pathogenic
1438222	NM_003742.4(ABCB11):c.262_263del (p.Asp88fs)	Pathogenic
1446319	NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter)	Pathogenic
1451709	NM_003742.4(ABCB11):c.1422del (p.Cys475fs)	Pathogenic
1452554	NM_003742.4(ABCB11):c.906_907insTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGACCTCAAACAAATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAAGAGAGGTTGAA (p.Arg303delinsTrpGluLysIlePheAlaThrTyrSerSerAspLysGlyLeuIleSerArgIleTyrAsnAspLeuLysGlnXaaXaaXaaXaaLysLysLysLysLysLysLysGluLysArgGlyTer)	Pathogenic
1453316	NM_003742.4(ABCB11):c.3904G>T (p.Glu1302Ter)	Pathogenic
1453324	NM_003742.4(ABCB11):c.1941del (p.Gly648fs)	Pathogenic
1453915	NM_003742.4(ABCB11):c.625dup (p.Ile209fs)	Pathogenic
1455996	NM_003742.4(ABCB11):c.3636del (p.Ser1214fs)	Pathogenic
1456227	NM_003742.4(ABCB11):c.843del (p.Asp282fs)	Pathogenic
1458203	NC_000002.11:g.(?169820706)(169825010_?)del	Pathogenic
1458296	NM_003742.4(ABCB11):c.3174del (p.Gln1058fs)	Pathogenic
1459126	NM_003742.4(ABCB11):c.2729dup (p.Ala912fs)	Pathogenic
1526232	NM_003742.4(ABCB11):c.2451del (p.Tyr818fs)	Pathogenic
1526234	NM_003742.4(ABCB11):c.611+1G>A	Pathogenic
154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	Pathogenic
1687463	NM_003742.4(ABCB11):c.3400C>T (p.Gln1134Ter)	Pathogenic
1803125	NM_003742.4(ABCB11):c.99-2A>G	Pathogenic
1879492	NM_003742.4(ABCB11):c.2012-2A>G	Pathogenic
1995971	NM_003742.4(ABCB11):c.1756del (p.Thr586fs)	Pathogenic
2016355	NM_003742.4(ABCB11):c.2622_2623dup (p.Gln875fs)	Pathogenic

SpliceAI

4727 predictions. Top by Δscore:

Variant	Effect	Δscore
2:168923818:ACCGT:A	acceptor_gain	1.0000
2:168923819:CCGT:C	acceptor_gain	1.0000
2:168923819:CCGTC:C	acceptor_gain	1.0000
2:168923820:CGT:C	acceptor_gain	1.0000
2:168923820:CGTC:C	acceptor_gain	1.0000
2:168923821:GT:G	acceptor_gain	1.0000
2:168923823:C:CC	acceptor_gain	1.0000
2:168924652:CTTA:C	donor_loss	1.0000
2:168924653:TTAC:T	donor_loss	1.0000
2:168924654:TAC:T	donor_loss	1.0000
2:168924655:A:AC	donor_gain	1.0000
2:168924655:AC:A	donor_gain	1.0000
2:168924655:ACCTT:A	donor_loss	1.0000
2:168924656:C:CG	donor_gain	1.0000
2:168924656:CC:C	donor_gain	1.0000
2:168924656:CCT:C	donor_gain	1.0000
2:168924656:CCTT:C	donor_gain	1.0000
2:168924656:CCTTT:C	donor_gain	1.0000
2:168924799:TATTT:T	acceptor_gain	1.0000
2:168924801:TTT:T	acceptor_gain	1.0000
2:168924802:TT:T	acceptor_gain	1.0000
2:168924802:TTCT:T	acceptor_loss	1.0000
2:168924804:C:CC	acceptor_gain	1.0000
2:168924804:C:CG	acceptor_loss	1.0000
2:168927152:TCA:T	donor_loss	1.0000
2:168927153:CACC:C	donor_loss	1.0000
2:168927154:A:T	donor_loss	1.0000
2:168927155:C:CG	donor_loss	1.0000
2:168927155:CCT:C	donor_gain	1.0000
2:168927361:ATC:A	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000033227 (2:168980460 T>C), RS1000054476 (2:168922021 T>C,G), RS1000085144 (2:168922149 C>T), RS1000105121 (2:169005648 C>T), RS1000116090 (2:168945652 G>C), RS1000167579 (2:168968064 T>A,C), RS1000168496 (2:168945914 C>T), RS1000223974 (2:168991667 G>T), RS1000232192 (2:168916446 G>T), RS1000235476 (2:169028607 C>G), RS1000262873 (2:169029809 C>T), RS1000266117 (2:168988060 T>C), RS1000323902 (2:169003279 C>T), RS1000410413 (2:169012261 A>G), RS1000435619 (2:168919106 T>C)

Disease associations

OMIM: gene MIM:603201 | disease phenotypes: MIM:605479, MIM:601847, MIM:211600, MIM:614972, MIM:209900, MIM:615878, MIM:602347

GenCC curated gene-disease

Disease	Classification	Inheritance
progressive familial intrahepatic cholestasis type 2	Definitive	Autosomal recessive
benign recurrent intrahepatic cholestasis type 2	Strong	Autosomal recessive
progressive familial intrahepatic cholestasis	Strong	Autosomal recessive

Mondo (10): familial intrahepatic cholestasis (MONDO:0017290), benign recurrent intrahepatic cholestasis type 2 (MONDO:0011559), progressive familial intrahepatic cholestasis type 2 (MONDO:0011156), progressive familial intrahepatic cholestasis type 1 (MONDO:0008892), progressive familial intrahepatic cholestasis (MONDO:0015762), cholestasis, intrahepatic, of pregnancy, 3 (MONDO:0013995), Bardet-Biedl syndrome (MONDO:0015229), cholestasis, progressive familial intrahepatic, 4 (MONDO:0014381), intrahepatic cholestasis (MONDO:0019072), progressive familial intrahepatic cholestasis type 3 (MONDO:0011214)

Orphanet (10): Familial intrahepatic cholestasis (Orphanet:284385), Benign recurrent intrahepatic cholestasis (Orphanet:65682), Benign recurrent intrahepatic cholestasis type 2 (Orphanet:99961), Progressive familial intrahepatic cholestasis type 2 (Orphanet:79304), Progressive familial intrahepatic cholestasis type 1 (Orphanet:79306), Progressive familial intrahepatic cholestasis (Orphanet:172), Intrahepatic cholestasis of pregnancy (Orphanet:69665), Bardet-Biedl syndrome (Orphanet:110), Progressive familial intrahepatic cholestasis type 4 (Orphanet:480483), Progressive familial intrahepatic cholestasis type 3 (Orphanet:79305)

HPO phenotypes

47 total (30 of 47 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000716	Depression
HP:0000821	Hypothyroidism
HP:0000952	Jaundice
HP:0000988	Skin rash
HP:0000989	Pruritus
HP:0001046	Intermittent jaundice
HP:0001081	Cholelithiasis
HP:0001082	Cholecystitis
HP:0001337	Tremor
HP:0001394	Cirrhosis
HP:0001402	Hepatocellular carcinoma
HP:0001406	Intrahepatic cholestasis
HP:0001408	Bile duct proliferation
HP:0001508	Failure to thrive
HP:0001518	Small for gestational age
HP:0001541	Ascites
HP:0001622	Premature birth
HP:0001732	Abnormality of the pancreas
HP:0001744	Splenomegaly
HP:0002014	Diarrhea
HP:0002024	Malabsorption
HP:0002027	Abdominal pain
HP:0002240	Hepatomegaly
HP:0002630	Fat malabsorption
HP:0002643	Neonatal respiratory distress
HP:0002904	Hyperbilirubinemia
HP:0002908	Conjugated hyperbilirubinemia
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0002960	Autoimmunity

GWAS associations

38 associations (top):

Study	Trait	p-value
GCST000202_1	Fasting plasma glucose	4.000000e-07
GCST000292_5	Metabolic traits	6.000000e-10
GCST000803_2	Glycated hemoglobin levels	8.000000e-18
GCST001007_14	Metabolic syndrome (bivariate traits)	9.000000e-08
GCST001233_8	Metabolite levels	2.000000e-15
GCST001276_1	Liver enzyme levels (alkaline phosphatase)	2.000000e-09
GCST002187_3	Systolic blood pressure in sickle cell anemia	4.000000e-06
GCST002221_4	Cholesterol, total	4.000000e-12
GCST002390_9	Glycated hemoglobin levels	3.000000e-11
GCST002789_4	Egg allergy	4.000000e-06
GCST004235_81	Total cholesterol levels	7.000000e-13
GCST005145_6	Glycated hemoglobin levels	4.000000e-06
GCST005913_3	Fasting blood glucose	1.000000e-07
GCST005998_6	Alanine transaminase levels	5.000000e-29
GCST005999_6	Aspartate aminotransferase levels	3.000000e-17
GCST006019_24	Gamma glutamyl transferase levels	1.000000e-18
GCST006612_22	LDL cholesterol	2.000000e-08
GCST006614_73	Total cholesterol levels	3.000000e-12
GCST006993_3	Hippocampal volume in Alzheimer’s disease dementia	1.000000e-06
GCST008078_111	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	9.000000e-13
GCST008078_22	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-11
GCST008079_154	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	8.000000e-15
GCST008079_53	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	7.000000e-12
GCST008086_2	LDL cholesterol levels in current drinkers	2.000000e-07
GCST008086_84	LDL cholesterol levels in current drinkers	4.000000e-06
GCST008398_1	Glycated hemoglobin levels	6.000000e-29
GCST010204_110	Low density lipoprotein cholesterol levels	8.000000e-24
GCST010243_204	Apolipoprotein B levels	4.000000e-22
GCST010245_135	LDL cholesterol levels	3.000000e-23
GCST011349_41	Gamma glutamyl transferase levels	3.000000e-18

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0004468	glucose measurement
EFO:0004541	HbA1c measurement
EFO:0000195	metabolic syndrome
EFO:0004533	alkaline phosphatase measurement
EFO:0006335	systolic blood pressure
EFO:0004574	total cholesterol measurement
EFO:0007018	egg allergy measurement
EFO:0004736	aspartate aminotransferase measurement
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0005035	hippocampal volume
EFO:0004329	alcohol drinking
EFO:0004615	apolipoprotein B measurement
EFO:0009303	fructosamine measurement
EFO:0009188	Red cell distribution width

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D020788	Bardet-Biedl Syndrome	C10.228.140.617.200; C11.270.684.624; C16.131.077.245.125; C16.320.184.125
D002780	Cholestasis, Intrahepatic	C06.130.120.135.250; C06.552.150
C535934	Cholestasis, progressive familial intrahepatic 2 (supp.)
C535935	Cholestasis, progressive familial intrahepatic 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6020 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

327 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 749,150 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1017	TELMISARTAN	4	27,457
CHEMBL1023	BEXAROTENE	4	40,951
CHEMBL103	PROGESTERONE	4	162,141
CHEMBL104	CLOTRIMAZOLE	4	56,325
CHEMBL1051	LATANOPROST	4	14,975
CHEMBL1064	SIMVASTATIN	4	123,163
CHEMBL1065	METHYSERGIDE	4	8,455
CHEMBL1069	VALSARTAN	4	38,585
CHEMBL1077	BROMFENAC	4	12,495
CHEMBL1083385	CLOPIDOGREL BISULFATE	4	27,828
CHEMBL1086	DIBUCAINE	4	17,231
CHEMBL1096885	VALRUBICIN	4	41,463
CHEMBL111	RIMONABANT	4	15,726
CHEMBL1112	ARIPIPRAZOLE	4	24,205
CHEMBL1123	DICYCLOMINE	4	8,691
CHEMBL1131	ACITRETIN	4	13,259
CHEMBL1136	TELITHROMYCIN	4	15,927
CHEMBL1138	EZETIMIBE	4	29,509
CHEMBL114	SAQUINAVIR	4	39,899
CHEMBL1159650	CLOBETASOL PROPIONATE	4	30,865
CHEMBL116	AMPRENAVIR	4
CHEMBL1161	MOMETASONE FUROATE	4
CHEMBL1162	NORETHINDRONE	4
CHEMBL1163	ATAZANAVIR	4
CHEMBL1164729	FEBUXOSTAT	4
CHEMBL1171837	PONATINIB	4
CHEMBL117785	TETRABENAZINE	4
CHEMBL118	CELECOXIB	4
CHEMBL1198857	VILANTEROL	4
CHEMBL1200374	EXEMESTANE	4

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

7 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2287622	ABCB11		0.00	0
rs4148777	ABCB11		0.00	0
rs10497346	ABCB11		0.00	0
rs11568367	ABCB11		0.00	0
rs4148776	ABCB11		0.00	0
rs72549402	ABCB11		0.00	0
rs11568372	ABCB11		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — ABCB subfamily

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
glycochenodeoxycholic acid	Binding	5.15	pKi

Binding affinities (BindingDB)

7 measured of 15 human assays (19 total across all organisms); most potent 7 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
Ros	IC50	4 nM	US-9102656: Use of rosuvastatin lactols as medicaments
30-ethyl-33-[(E)-1-hydroxy-2-methylhex-4-enyl]-1,4,7,10,12,15,19,25,28-nonamethyl-6,9,18,24-tetrakis(2-methylpropyl)-3,21-di(propan-2-yl)-1,4,7,10,13,16,19,22,25,28,31-undecazacyclotritriacontane-2,5,8,11,14,17,20,23,26,29,32-undecone	IC50	3100 nM	US-9090657: Compound and methods for its production
25,30-diethyl-33-[(E)-1-hydroxy-2-methylhex-4-enyl]-1,4,7,10,12,15,19,27,28-nonamethyl-6,9,18-tris(2-methylpropyl)-3,21,24-tri(propan-2-yl)-1,4,7,10,13,16,19,22,25,28,31-undecazacyclotritriacontane-2,5,8,11,14,17,20,23,26,29,32-undecone	IC50	16000 nM	US-9090657: Compound and methods for its production
CHEMBL550637	IC50	59500 nM
CHEMBL4088943	IC50	65600 nM
CHEMBL235789	IC50	124000 nM
CHEMBL2308220	IC50	133000 nM

ChEMBL bioactivities

168 potent at pChembl≥5 of 634 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.00	AC50	100	nM	PIOGLITAZONE
6.96	IC50	110	nM	ALISPORIVIR
6.75	IC50	180	nM	CHEMBL3704745
6.58	IC50	262.1	nM	PIOGLITAZONE
6.58	IC50	260	nM	PIOGLITAZONE
6.52	IC50	300	nM	PIOGLITAZONE
6.52	IC50	300	nM	CHEMBL4162778
6.40	IC50	400	nM	PIOGLITAZONE
6.40	IC50	400	nM	CYCLOSPORINE
6.34	IC50	460	nM	CYCLOSPORINE
6.30	IC50	500	nM	CYCLOSPORINE
6.18	AC50	660	nM	ITRACONAZOLE
6.05	IC50	900	nM	CYCLOSPORINE
6.00	AC50	1000	nM	ROSIGLITAZONE
6.00	AC50	1012	nM	SIROLIMUS
5.98	AC50	1052	nM	CYCLOSPORINE
5.89	AC50	1300	nM	MONTELUKAST
5.85	IC50	1400	nM	CHEMBL4159416
5.85	IC50	1400	nM	CHEMBL5182534
5.83	IC50	1470	nM	CETRORELIX ACETATE
5.82	IC50	1500	nM	GLYBURIDE
5.81	IC50	1560	nM	VALINOMYCIN
5.80	IC50	1600	nM	CHEMBL3344501
5.80	IC50	1600	nM	VALINOMYCIN
5.80	AC50	1600	nM	EPALRESTAT
5.80	AC50	1600	nM	BROMOCRIPTINE
5.77	AC50	1700	nM	GLIQUIDONE
5.76	IC50	1740	nM	RITONAVIR
5.75	AC50	1800	nM	ALECTINIB
5.70	IC50	2000	nM	EVEROLIMUS
5.70	IC50	2020	nM	MIFEPRISTONE
5.70	AC50	2000	nM	ATAZANAVIR
5.70	AC50	2000	nM	SORAFENIB
5.70	IC50	1995	nM	BMS-986020
5.66	IC50	2200	nM	RITONAVIR
5.66	AC50	2200	nM	VORAPAXAR
5.64	AC50	2277	nM	ZAFIRLUKAST
5.62	AC50	2400	nM	MOMETASONE FUROATE
5.57	IC50	2700	nM	TROGLITAZONE
5.57	IC50	2690	nM	TEMSIROLIMUS
5.55	IC50	2800	nM	ROSIGLITAZONE
5.54	IC50	2900	nM	KETOCONAZOLE
5.54	IC50	2900	nM	SAQUINAVIR
5.54	AC50	2900	nM	TEMSIROLIMUS
5.53	IC50	2970	nM	PRANLUKAST
5.52	IC50	3000	nM	TROGLITAZONE
5.52	AC50	3000	nM	BENZBROMARONE
5.52	AC50	3000	nM	REGORAFENIB
5.50	IC50	3200	nM	CHEMBL4168422
5.50	AC50	3200	nM	TIPRANAVIR

PubChem BioAssay actives

230 with measured affinity, of 2305 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(3S,6S,9S,12R,15S,18S,21S,24S,27R,30S,33S)-25,30-diethyl-33-[(E,1R,2R)-1-hydroxy-2-methylhex-4-enyl]-1,4,7,10,12,15,19,27,28-nonamethyl-6,9,18-tris(2-methylpropyl)-3,21,24-tri(propan-2-yl)-1,4,7,10,13,16,19,22,25,28,31-undecazacyclotritriacontane-2,5,8,11,14,17,20,23,26,29,32-undecone	1168844: Inhibition of BSEP (unknown origin) expressed in HEK293 cells using [3H]taurocholic acid substrate	ic50	0.1100	uM
Pioglitazone	1674183: Inhibition of human BSEP expressed in HEK293 cell membrane vesicles assessed as reduction in 3H-TCA uptake incubated for 5 mins by radiodetection method	ic50	0.2600	uM
sodium (2S,3R)-3-cyclopropyl-3-[2-[5-(2-fluoro-5-methoxyphenyl)-2-pyridinyl]-3,4-dihydro-2H-chromen-7-yl]-2-methylpropanoate	1356384: Inhibition of human BSEP expressed in baculovirus infected Sf9 insect cell membrane vesicles assessed as reduction in ATP-dependent [3H]-taurocholic acid uptake	ic50	0.3000	uM
cyclosporine	1443986: Inhibition of recombinant human BSEP expressed in baculovirus infected sf9 cell membrane vesicles assessed as reduction in ATP or AMP-dependent [3H]-taurocholic acid uptake in to vesicles preincubated for 5 mins followed by ATP/AMP addition measured after 5 mins by scintillation counting method	ic50	0.4000	uM
sodium (2S,3R)-3-cyclopropyl-3-[2-[4-(2-fluoro-5-methoxyphenyl)phenyl]-3,4-dihydro-2H-chromen-7-yl]-2-methylpropanoate	1356384: Inhibition of human BSEP expressed in baculovirus infected Sf9 insect cell membrane vesicles assessed as reduction in ATP-dependent [3H]-taurocholic acid uptake	ic50	1.4000	uM
N-[[4-[5-(2-fluoropropan-2-yl)-1,2,4-oxadiazol-3-yl]-1-bicyclo[2.2.2]octanyl]methyl]-3-hydroxy-N-[3-[4-(2-hydroxypropan-2-yl)phenyl]phenyl]-3-(trifluoromethyl)cyclobutane-1-carboxamide	1892385: Inhibition of BSEP (unknown origin)	ic50	1.4000	uM
Cetrorelix Acetate	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	1.4700	uM
glyburide	1443986: Inhibition of recombinant human BSEP expressed in baculovirus infected sf9 cell membrane vesicles assessed as reduction in ATP or AMP-dependent [3H]-taurocholic acid uptake in to vesicles preincubated for 5 mins followed by ATP/AMP addition measured after 5 mins by scintillation counting method	ic50	1.5000	uM
(3S,6S,9R,12R,15S,18S,21R,24R,27S,30S,33R,36R)-6,18,30-trimethyl-3,9,12,15,21,24,27,33,36-nona(propan-2-yl)-1,7,13,19,25,31-hexaoxa-4,10,16,22,28,34-hexazacyclohexatriacontane-2,5,8,11,14,17,20,23,26,29,32,35-dodecone	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	1.5600	uM
(3S,6S,9S,12R,15S,18S,21S,24S,27R,30S,33S)-30-ethyl-33-[(E,1R,2R)-1-hydroxy-2-methylhex-4-enyl]-24-[(2S)-1-[4-(2-methoxyethyl)piperazin-1-yl]propan-2-yl]-1,4,7,10,12,15,19,25,27,28-decamethyl-6,9,18-tris(2-methylpropyl)-3,21-di(propan-2-yl)-1,4,7,10,13,16,19,22,25,28,31-undecazacyclotritriacontane-2,5,8,11,14,17,20,23,26,29,32-undecone	1168844: Inhibition of BSEP (unknown origin) expressed in HEK293 cells using [3H]taurocholic acid substrate	ic50	1.6000	uM
Ritonavir	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	1.7400	uM
Everolimus	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	2.0000	uM
Mifepristone	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	2.0200	uM
Temsirolimus	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	2.6900	uM
5-[[4-[(6-hydroxy-2,5,7,8-tetramethyl-3,4-dihydrochromen-2-yl)methoxy]phenyl]methyl]-1,3-thiazolidine-2,4-dione	1209455: Inhibition of human BSEP expressed in plasma membrane vesicles of Sf21 cells assessed as inhibition of ATP-dependent [3H]taurocholate uptake	ic50	2.7000	uM
Rosiglitazone	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	2.8000	uM
1-[4-[4-[[2-(2,4-dichlorophenyl)-2-(imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]ethanone	1209455: Inhibition of human BSEP expressed in plasma membrane vesicles of Sf21 cells assessed as inhibition of ATP-dependent [3H]taurocholate uptake	ic50	2.9000	uM
Saquinavir	1443986: Inhibition of recombinant human BSEP expressed in baculovirus infected sf9 cell membrane vesicles assessed as reduction in ATP or AMP-dependent [3H]-taurocholic acid uptake in to vesicles preincubated for 5 mins followed by ATP/AMP addition measured after 5 mins by scintillation counting method	ic50	2.9000	uM
N-[4-oxo-2-(2H-tetrazol-5-yl)chromen-8-yl]-4-(4-phenylbutoxy)benzamide	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	2.9700	uM
sodium (2S,3R)-3-cyclopropyl-3-[2-[5-(5-fluoro-2-methoxy-4-pyridinyl)-2-pyridinyl]-3,4-dihydro-2H-chromen-7-yl]-2-methylpropanoate	1356384: Inhibition of human BSEP expressed in baculovirus infected Sf9 insect cell membrane vesicles assessed as reduction in ATP-dependent [3H]-taurocholic acid uptake	ic50	3.2000	uM
1-[4-[4-[[(2R,4S)-2-(2,4-dichlorophenyl)-2-(imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]ethanone	1674183: Inhibition of human BSEP expressed in HEK293 cell membrane vesicles assessed as reduction in 3H-TCA uptake incubated for 5 mins by radiodetection method	ic50	3.4000	uM
sodium (2S,3R)-3-cyclopropyl-3-[(2S)-2-[2-fluoro-4-(2-methoxy-4-pyridinyl)phenyl]-3,4-dihydro-2H-chromen-7-yl]-2-methylpropanoate	1356384: Inhibition of human BSEP expressed in baculovirus infected Sf9 insect cell membrane vesicles assessed as reduction in ATP-dependent [3H]-taurocholic acid uptake	ic50	3.5000	uM
3-[[3-[(E)-2-(7-chloroquinolin-2-yl)ethenyl]phenyl]-[3-(dimethylamino)-3-oxopropyl]sulfanylmethyl]sulfanylpropanoic acid	1443980: Inhibition of human BSEP expressed in fall armyworm sf9 cell plasma membrane vesicles assessed as reduction in vesicle-associated [3H]-taurocholate transport preincubated for 10 mins prior to ATP addition measured after 15 mins in presence of [3H]-taurocholate by topcount based membrane vesicle transport assay	ic50	3.5000	uM
(3S)-3-(7-methoxy-1-methylbenzotriazol-5-yl)-3-[4-methyl-3-[[(4R)-4-methyl-1,1-dioxo-3,4-dihydro-5,1lambda6,2-benzoxathiazepin-2-yl]methyl]phenyl]propanoic acid	1307905: Inhibition of BSEP (unknown origin)	ic50	4.0000	uM
Telithromycin	1443980: Inhibition of human BSEP expressed in fall armyworm sf9 cell plasma membrane vesicles assessed as reduction in vesicle-associated [3H]-taurocholate transport preincubated for 10 mins prior to ATP addition measured after 15 mins in presence of [3H]-taurocholate by topcount based membrane vesicle transport assay	ic50	4.0000	uM
Dipyridamole	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	4.0000	uM
[(2S,3R,4S,6R)-4-(dimethylamino)-2-[[(3R,4S,5S,6R,7R,9R,11R,12R,13S,14R)-14-ethyl-7,12,13-trihydroxy-4-[(2R,4R,5S,6S)-5-hydroxy-4-methoxy-4,6-dimethyloxan-2-yl]oxy-3,5,7,9,11,13-hexamethyl-2,10-dioxo-oxacyclotetradec-6-yl]oxy]-6-methyloxan-3-yl] propanoate;dodecyl hydrogen sulfate	1209455: Inhibition of human BSEP expressed in plasma membrane vesicles of Sf21 cells assessed as inhibition of ATP-dependent [3H]taurocholate uptake	ic50	4.1000	uM
Nefazodone	1209455: Inhibition of human BSEP expressed in plasma membrane vesicles of Sf21 cells assessed as inhibition of ATP-dependent [3H]taurocholate uptake	ic50	4.2000	uM
Olmesartan Medoxomil	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	4.7300	uM
1-[4-[4-[3-methyl-4-[[(1R)-1-phenylethoxy]carbonylamino]-1,2-oxazol-5-yl]phenyl]phenyl]cyclopropane-1-carboxylic acid	1813446: Inhibition of BSEP (unknown origin)	ic50	4.8000	uM
Rifamycin	1209455: Inhibition of human BSEP expressed in plasma membrane vesicles of Sf21 cells assessed as inhibition of ATP-dependent [3H]taurocholate uptake	ic50	6.3000	uM
N-[3-chloro-4-[(3-fluorophenyl)methoxy]phenyl]-6-[5-[(2-methylsulfonylethylamino)methyl]furan-2-yl]quinazolin-4-amine;4-methylbenzenesulfonic acid	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	6.4900	uM
Lapatinib	1443980: Inhibition of human BSEP expressed in fall armyworm sf9 cell plasma membrane vesicles assessed as reduction in vesicle-associated [3H]-taurocholate transport preincubated for 10 mins prior to ATP addition measured after 15 mins in presence of [3H]-taurocholate by topcount based membrane vesicle transport assay	ic50	6.5000	uM
N-[3-[6-amino-5-[2-[methyl(prop-2-enoyl)amino]ethoxy]pyrimidin-4-yl]-5-fluoro-2-methylphenyl]-4-cyclopropyl-2-fluorobenzamide	1560982: Inhibition of BSEP (unknown origin)	ic50	6.6000	uM
2-[[(4R)-4-[(3R,5S,7R,8R,9S,10S,13R,14S,17R)-3,7-dihydroxy-10,13-dimethyl-2,3,4,5,6,7,8,9,11,12,14,15,16,17-tetradecahydro-1H-cyclopenta[a]phenanthren-17-yl]pentanoyl]amino]acetic acid	679472: TP_TRANSPORTER: competitive inhibition of Taurocholate uptake in membrane vesicles prepared from High Five cells infected with the ABCB11 baculovirus	ki	7.0000	uM
(15R)-5-[3-(2-methoxyethoxymethyl)phenyl]-15-methyl-11-thia-6,14,17-triazatetracyclo[8.8.0.02,7.012,18]octadeca-1(10),2(7),3,5,8,12(18)-hexaen-13-one	1301391: Inhibition of human BSEP expressed in recombinant baculovirus infected insect Sf9 cell membrane vesicles assessed as [3H]-taurocholate transport preincubated for 5 mins followed by ATP or AMP addition measured after 5 mins by scintillation counting method	ic50	7.0000	uM
4-methyl-6-[4-[[(3S,5R)-3-methyl-5-(4-methyl-1-oxo-3H-2-benzofuran-5-yl)piperazin-1-yl]methyl]triazol-2-yl]pyridine-3-carbonitrile	2077523: Inhibition of BSEP (unknown origin)	ic50	7.0000	uM
(15R)-15-methyl-5-(6-methyl-3-pyridinyl)-11-thia-6,14,17-triazatetracyclo[8.8.0.02,7.012,18]octadeca-1(10),2(7),3,5,8,12(18)-hexaen-13-one	1301391: Inhibition of human BSEP expressed in recombinant baculovirus infected insect Sf9 cell membrane vesicles assessed as [3H]-taurocholate transport preincubated for 5 mins followed by ATP or AMP addition measured after 5 mins by scintillation counting method	ic50	7.0000	uM
4-[2-fluoro-4-methoxy-5-[[(1S,2R,3S,4R)-3-[(1-methylcyclobutyl)methylcarbamoyl]-2-bicyclo[2.2.1]heptanyl]carbamoyl]phenoxy]-1-methylcyclohexane-1-carboxylic acid	2082480: Inhibition of human BSEP assessed as biliary excretion of bile salts by membrane vesicle assay	ic50	7.1000	uM
Tacrolimus	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	7.1800	uM
Irbesartan	1674183: Inhibition of human BSEP expressed in HEK293 cell membrane vesicles assessed as reduction in 3H-TCA uptake incubated for 5 mins by radiodetection method	ic50	7.3000	uM
6-chloro-4-hydroxy-2-methyl-1,1-dioxo-N-pyridin-2-ylthieno[2,3-e]thiazine-3-carboxamide	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	7.5600	uM
trans-(1S,3S)-3-[5-[5-[[cyclobutylmethyl(methyl)carbamoyl]oxymethyl]-1-methyltriazol-4-yl]-3-methylpyrazin-2-yl]oxycyclohexane-1-carboxylic acid	1813446: Inhibition of BSEP (unknown origin)	ic50	7.7000	uM
Nicardipine	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	7.8700	uM
2-methyl-2-[4-(3-methyl-2-oxo-8-quinolin-3-ylimidazo[4,5-c]quinolin-1-yl)phenyl]propanenitrile	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	7.9000	uM
Sorafenib	1443980: Inhibition of human BSEP expressed in fall armyworm sf9 cell plasma membrane vesicles assessed as reduction in vesicle-associated [3H]-taurocholate transport preincubated for 10 mins prior to ATP addition measured after 15 mins in presence of [3H]-taurocholate by topcount based membrane vesicle transport assay	ic50	8.0000	uM
(1S,6R,13S)-16,17-dimethoxy-6-prop-1-en-2-yl-2,7,20-trioxapentacyclo[11.8.0.03,11.04,8.014,19]henicosa-3(11),4(8),9,14,16,18-hexaen-12-one	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	8.0000	uM
Posaconazole	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	8.1000	uM
Reserpine	1473738: Inhibition of human BSEP overexpressed in Sf9 cell membrane vesicles assessed as uptake of [3H]-taurocholate in presence of ATP measured after 15 to 20 mins by membrane vesicle transport assay	ic50	8.3500	uM
Clobetasol Propionate	1209455: Inhibition of human BSEP expressed in plasma membrane vesicles of Sf21 cells assessed as inhibition of ATP-dependent [3H]taurocholate uptake	ic50	8.5000	uM

CTD chemical–gene interactions

290 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Chenodeoxycholic Acid	decreases reaction, affects binding, increases activity, decreases expression, affects cotreatment (+1 more)	15
Taurocholic Acid	increases export, increases uptake, decreases reaction, increases import, increases transport (+2 more)	11
Cyclosporine	increases transport, decreases activity, decreases expression, decreases reaction	10
Troglitazone	increases transport, decreases activity, decreases export, decreases expression, decreases reaction (+1 more)	8
Bile Acids and Salts	affects transport, increases expression, decreases reaction, increases transport, affects export (+1 more)	8
GW 4064	increases reaction, decreases reaction, affects cotreatment, increases expression	7
nefazodone	decreases reaction, increases transport, decreases activity	6
Glyburide	increases transport, decreases activity, decreases export, decreases reaction	6
Ritonavir	decreases reaction, increases transport, decreases activity	6
Bosentan	decreases reaction, increases transport, decreases activity, decreases expression	5
Deoxycholic Acid	affects cotreatment, increases expression, decreases expression	5
Ketoconazole	decreases reaction, increases transport, decreases activity, decreases export	5
Rifampin	affects expression, decreases reaction, increases transport, decreases activity, decreases expression (+1 more)	5
perfluorooctanoic acid	decreases expression	4
pregna-4,17-diene-3,16-dione	affects cotreatment, increases expression, decreases reaction	4
verlukast	decreases reaction, increases transport, decreases activity, decreases expression	4
perfluorooctane sulfonic acid	decreases expression, increases expression, affects expression	4
TAK-875	decreases activity, decreases reaction, increases transport	4
Rosiglitazone	decreases reaction, increases transport, decreases activity	4
Pioglitazone	decreases activity	4
Acetaminophen	decreases activity, decreases expression, increases expression, affects cotreatment	4
Benzbromarone	decreases reaction, increases transport, decreases activity	4
Ethinyl Estradiol	affects expression, decreases activity, decreases expression, affects reaction, affects cotreatment	4
Fusidic Acid	decreases reaction, increases transport, decreases activity	4
Glycocholic Acid	affects transport, decreases expression, affects cotreatment, increases expression	4
Valproic Acid	decreases activity, decreases expression, decreases methylation	4
Indinavir	decreases reaction, increases transport, decreases activity	4
glimepiride	decreases reaction, increases transport, decreases activity	3
zafirlukast	decreases activity	3
pazopanib	decreases activity	3

ChEMBL screening assays

85 unique, capped per target: 37 binding, 31 admet, 13 functional, 4 toxicity

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1027010	Binding	Enhancement of bile salt export pump promoter transactivation	Effect of guggulsterone and cembranoids of Commiphora mukul on pancreatic phospholipase A(2): role in hypocholesterolemia. — J Nat Prod
CHEMBL1743159	ADMET	Substrates of transporters of clinical importance in the absorption and disposition of drugs, BSEP	Membrane transporters in drug development. — Nat Rev Drug Discov
CHEMBL2075387	Functional	TP_TRANSPORTER: uptake in membrane vesicles isolated from Bsep-expressing Sf9 cells	Functional expression of the canalicular bile salt export pump of human liver. — Gastroenterology

Cellosaurus cell lines

2 cell lines: 1 cancer cell line, 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B6A9	HepaRG BSEP KO	Cancer cell line	Female
CVCL_C3LF	STBCi322-A-5	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

47 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT03566238	PHASE3	COMPLETED	This Study Will Investigate the Efficacy and Safety of A4250 in Children With PFIC Types 1 or 2
NCT03353454	PHASE3	WITHDRAWN	A Placebo-controlled Study of Maralixibat (SHP625) in Pediatric Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC)
NCT03659916	PHASE3	COMPLETED	Long Term Safety & Efficacy Study Evaluating The Effect of A4250 in Children With PFIC
NCT03905330	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Maralixibat in Subjects With Progressive Familial Intrahepatic Cholestasis (MARCH-PFIC)
NCT04185363	PHASE3	COMPLETED	An Extension Study of Maralixibat in Patients With Progressive Familial Intrahepatic Cholestasis (PFIC)
NCT05543187	PHASE3	COMPLETED	A Study of TAK-625 for the Treatment of Progressive Familial Intrahepatic Cholestasis (PFIC)
NCT03746522	PHASE3	COMPLETED	Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity
NCT04966741	PHASE3	COMPLETED	Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity
NCT05194124	PHASE3	COMPLETED	Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Participants With Specific Gene Defects in the MC4R Pathway
NCT01576458	PHASE3	COMPLETED	Ursodeoxycholic Acid in the Treatment of Intrahepatic Cholestasis of Pregnancy
NCT02057718	PHASE2	COMPLETED	Open Label Study to Evaluate Efficacy and Long Term Safety of LUM001 (Maralixibat) in the Treatment of Cholestatic Liver Disease in Patients With Progressive Familial Intrahepatic Cholestasis
NCT04729751	PHASE2	COMPLETED	A Study to Evaluate the Safety and Tolerability of Maralixibat in Infant Participants With Cholestatic Liver Diseases Including Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille Syndrome (ALGS).
NCT03490019	PHASE2	WITHDRAWN	Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement
NCT02963077	PHASE1	COMPLETED	A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384
NCT03082937	PHASE1	COMPLETED	An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects
NCT02131623	Not specified	COMPLETED	Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease
NCT03930810	Not specified	ENROLLING_BY_INVITATION	NAtural Course and Prognosis of PFIC and Effect of Biliary Diversion
NCT04071197	Not specified	UNKNOWN	Gastrostomy-Biliary Diversion: Innovative Management for Bile Canalicular Transport Disorders
NCT04483531	Not specified	APPROVED_FOR_MARKETING	Odevixibat for the Treatment of Progressive Familial Intrahepatic Cholestasis
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT05704517	Not specified	UNKNOWN	Progressive Familial Intrahepatic Cholestasis in Indian Children - Establishing an Indian PFIC Registry
NCT06193928	Not specified	RECRUITING	Long-Term SafEty and Clinical Outcomes of LivmArli in Patients in the United States (LEAP-US)
NCT06777914	Not specified	RECRUITING	Familial Intrahepatic Cholestasis-related Genes Associated with Disease Susceptibility in Hepato-biliary Cancers
NCT06778174	Not specified	RECRUITING	Prospective Analysis of the Treatment of Progressive Familial Intrahepatic Cholestasis (TreatFIC)
NCT06781242	Not specified	RECRUITING	Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis
NCT07185919	Not specified	RECRUITING	A Study of the Effectiveness, Safety and the Long-term Outcomes of Participants With Progressive Familial Intrahepatic Cholestasis (PFIC) Who Take Odevixibat (Bylvay) in South Korea
NCT07293897	Not specified	RECRUITING	A Database Study of Maralixibat (TAK-625) in Participants With Alagille Syndrome (ALGS) and Progressive Familial Intrahepatic Cholestasis (PFIC)
NCT07317193	Not specified	RECRUITING	DEFINING THE GENETIC DRIVERS OF ADULT-ONSET CHOLESTATIC LIVER DISEASE
NCT07588880	Not specified	RECRUITING	A Study of the Effectiveness, Safety and the Long-term Outcomes of Participants With Progressive Familial Intrahepatic Cholestasis (PFIC) Who Take Odevixibat (Bylvay) in China
NCT01784718	Not specified	NO_LONGER_AVAILABLE	Buphenyl Therapy for Byler’s Disease
NCT01949766	Not specified	NO_LONGER_AVAILABLE	Transition From Buphenyl to RAVICTI for the Therapy of Byler Disease
NCT02094222	Not specified	NO_LONGER_AVAILABLE	Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease
NCT00078091	Not specified	TERMINATED	Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
NCT00213811	Not specified	COMPLETED	Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT02329210	Not specified	RECRUITING	Clinical Registry Investigating Bardet-Biedl Syndrome
NCT02435940	Not specified	RECRUITING	Inherited Retinal Degenerative Disease Registry
NCT04461444	Not specified	RECRUITING	COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
NCT04463316	Not specified	RECRUITING	GROWing Up With Rare GENEtic Syndromes
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)