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 ... See more...

Aliases for ABCB11 Gene

Aliases for ABCB11 Gene

  • ATP Binding Cassette Subfamily B Member 11 2 3 5
  • Bile Salt Export Pump 2 3 4
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 11 2 3
  • Progressive Familial Intrahepatic Cholestasis 2 2 3
  • ATP-Binding Cassette Sub-Family B Member 11 3 4
  • ABC Member 16, MDR/TAP Subfamily 2 3
  • PFIC-2 2 3
  • ABC16 2 3
  • BSEP 3 4
  • PGY4 2 3
  • SPGP 2 3
  • Sister P-Glycoprotein 3
  • EC 3.6.3.44 50
  • EC 7.6.2.- 4
  • EC 3.6.3 50
  • ABCB11 5
  • BRIC2 3
  • PFIC2 3

External Ids for ABCB11 Gene

Previous HGNC Symbols for ABCB11 Gene

  • BSEP
  • PFIC2

Previous GeneCards Identifiers for ABCB11 Gene

  • GC02M167831
  • GC02M168321
  • GC02M169743
  • GC02M169981
  • GC02M169604
  • GC02M169487
  • GC02M161675

Summaries for ABCB11 Gene

Entrez Gene Summary for ABCB11 Gene

  • 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]

GeneCards Summary for ABCB11 Gene

ABCB11 (ATP Binding Cassette Subfamily B Member 11) is a Protein Coding gene. Diseases associated with ABCB11 include Cholestasis, Progressive Familial Intrahepatic, 2 and Cholestasis, Benign Recurrent Intrahepatic, 2. Among its related pathways are Statin Pathway and Farnesoid X Receptor Pathway. Gene Ontology (GO) annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCB1.

UniProtKB/Swiss-Prot Summary for ABCB11 Gene

  • 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 to hepatic bile acids homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner (PubMed:16332456, PubMed:22262466, PubMed:15791618, PubMed:18985798, PubMed:19228692, PubMed:20398791, PubMed:24711118, PubMed:29507376, PubMed:20010382, PubMed:32203132). Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts (PubMed:16332456). Also transports non-bile acid compounds, such as pravastatin and fexofenadine in an ATP-dependent manner and may be involved in their biliary excretion (PubMed:15901796, PubMed:18245269).

Gene Wiki entry for ABCB11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCB11 Gene

Genomics for ABCB11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABCB11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J169031 Promoter 0.8 EPDnew 250.7 +0.1 52 0.1 ATF3 YY1 FOXA2 RXRA ZBTB33 JUND NFE2 HNF4A FOXA1 RAD21 ABCB11 MK280144-379 SPC25
GH02J169069 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE 11.2 -40.6 -40596 5.2 NCOR1 ATF3 NFIC YY1 REST CEBPB HES1 ARNT IRF2 EP300 DHRS9 PPIG ENSG00000235321 ABCB11 PHOSPHO2 HSALNG0020231 LRP2
GH02J168961 Enhancer 1 Ensembl ENCODE 10.5 +69.2 69165 1.5 ZNF654 CEBPA CTCF REST CEBPB DEK TRIM22 HOMEZ ARNT THAP11 ENSG00000235321 ABCB11 G6PC2 lnc-SPC25-2 HSALNG0020230 SPC25
GH02J169095 Enhancer 0.9 ENCODE 10.3 -64.4 -64360 0.2 NCOR1 IKZF1 JUND NFIC CEBPB HES1 BHLHE40 MBD2 EP300 CTBP1 ABCB11 DHRS9 ENSG00000235321 HSALNG0020231 LRP2
GH02J168991 Enhancer 0.8 ENCODE dbSUPER 11.2 +38.9 38901 1.8 CEBPA YY1 CEBPB EP300 RXRA ZNF316 ZBTB33 RAD21 HNF4A CEBPG ABCB11 lnc-SPC25-2 piR-38051-168 SPC25
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCB11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCB11

Top Transcription factor binding sites by QIAGEN in the ABCB11 gene promoter:
  • aMEF-2
  • c-Myc
  • FOXO4
  • Max1
  • MEF-2A
  • Pax-2
  • Pax-2a
  • Pax-2b
  • USF-1
  • USF1

Genomic Locations for ABCB11 Gene

Latest Assembly
chr2:168,915,468-169,031,396
(GRCh38/hg38)
Size:
115,929 bases
Orientation:
Minus strand

Previous Assembly
chr2:169,777,291-169,887,834
(GRCh37/hg19 by Entrez Gene)
Size:
110,544 bases
Orientation:
Minus strand

chr2:169,779,448-169,887,832
(GRCh37/hg19 by Ensembl)
Size:
108,385 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr2(ALT_REF_LOCI_1):107,408-123,061 (-)

Genomic View for ABCB11 Gene

Genes around ABCB11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCB11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCB11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCB11 Gene

Proteins for ABCB11 Gene

  • Protein details for ABCB11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95342-ABCBB_HUMAN
    Recommended name:
    Bile salt export pump
    Protein Accession:
    O95342
    Secondary Accessions:
    • Q53TL2
    • Q9UNB2

    Protein attributes for ABCB11 Gene

    Size:
    1321 amino acids
    Molecular mass:
    146407 Da
    Quaternary structure:
    • Interacts with HAX1 (By similarity). Interacts with the adapter protein complex 2 (AP-2) throught AP2A2 or AP2A1; this interaction regulates cell membrane expresion of ABCB11 through its internalization in a clathrin-dependent manner and its subsequent degradation (PubMed:22262466).

    Three dimensional structures from OCA and Proteopedia for ABCB11 Gene

neXtProt entry for ABCB11 Gene

Selected DME Specific Peptides for ABCB11 Gene

O95342:
  • GWKLTLV
  • KILLLDE
  • ENIRYGR
  • LDEATSALDTESE
  • VIAHRLSTIQNAD
  • QRIAIARA
  • KQRVAIA
  • LLLDEATSALD
  • ALDKAREGRT
  • ALDNESE
  • VSQEPVLF
  • QRVAIAR
  • AHRLSTI
  • VIAHRLST

Post-translational modifications for ABCB11 Gene

  • N-glycosylated.
  • Ubiquitinated; short-chain ubiquitination regulates cell-Surface expression of ABCB11.
  • Glycosylation at Asn109, Asn116, Asn122, and Asn125
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for ABCB11
  • Boster Bio Antibodies for ABCB11
  • Santa Cruz Biotechnology (SCBT) Antibodies for ABCB11

Domains & Families for ABCB11 Gene

Gene Families for ABCB11 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for ABCB11 Gene

GenScript: Design optimal peptide antigens:
  • ATP-binding cassette sub-family B member 11 (ABCBB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95342

UniProtKB/Swiss-Prot:

ABCBB_HUMAN :
  • Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
Domain:
  • Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
genes like me logo Genes that share domains with ABCB11: view

Function for ABCB11 Gene

Molecular function for ABCB11 Gene

UniProtKB/Swiss-Prot 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 to hepatic bile acids homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner (PubMed:16332456, PubMed:22262466, PubMed:15791618, PubMed:18985798, PubMed:19228692, PubMed:20398791, PubMed:24711118, PubMed:29507376, PubMed:20010382, PubMed:32203132). Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts (PubMed:16332456). Also transports non-bile acid compounds, such as pravastatin and fexofenadine in an ATP-dependent manner and may be involved in their biliary excretion (PubMed:15901796, PubMed:18245269).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + cholate(in) + H2O = ADP + cholate(out) + H(+) + phosphate; Xref=Rhea:RHEA:50048, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29747, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16332456};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + taurocholate(in) = ADP + H(+) + phosphate + taurocholate(out); Xref=Rhea:RHEA:50052, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:36257, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15791618, ECO:0000269|PubMed:15901796, ECO:0000269|PubMed:16332456, ECO:0000269|PubMed:18985798, ECO:0000269|PubMed:19228692, ECO:0000269|PubMed:20010382, ECO:0000269|PubMed:20398791, ECO:0000269|PubMed:22262466, ECO:0000269|PubMed:24711118, ECO:0000269|PubMed:29507376, ECO:0000269|PubMed:32203132};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + glycocholate(in) + H2O = ADP + glycocholate(out) + H(+) + phosphate; Xref=Rhea:RHEA:50056, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29746, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15791618, ECO:0000269|PubMed:16332456, ECO:0000269|PubMed:32203132};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + glycochenodeoxycholate(in) + H2O = ADP + glycochenodeoxycholate(out) + H(+) + phosphate; Xref=Rhea:RHEA:50060, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:36252, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16332456};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + taurochenodeoxycholate(in) = ADP + H(+) + phosphate + taurochenodeoxycholate(out); Xref=Rhea:RHEA:50064, ChEBI:CHEBI:9407, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16332456};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + glycoursodeoxycholate(in) + H2O = ADP + glycoursodeoxycholate(out) + H(+) + phosphate; Xref=Rhea:RHEA:50068, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:132030, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16332456};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + tauroursodeoxycholate(in) = ADP + H(+) + phosphate + tauroursodeoxycholate(out); Xref=Rhea:RHEA:50072, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:132028, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16332456, ECO:0000269|PubMed:32203132};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + taurodeoxycholate(in) = ADP + H(+) + phosphate + taurodeoxycholate(out); Xref=Rhea:RHEA:50080, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:36261, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16332456};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + taurolithocholate sulfate(in) = ADP + H(+) + phosphate + taurolithocholate sulfate(out); Xref=Rhea:RHEA:50084, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58301, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16332456};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + pravastatin(in) = ADP + H(+) + phosphate + pravastatin(out); Xref=Rhea:RHEA:63908, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:63660, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15901796};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=30.4 uM for taurocholate {ECO:0000269|PubMed:17264802}; KM=6.2 uM for taurocholate {ECO:0000269|PubMed:16332456}; KM=21.7 uM for glycocholate {ECO:0000269|PubMed:16332456}; KM=6.6 uM for taurochenodeoxycholate {ECO:0000269|PubMed:16332456}; KM=7.5 uM for glycochenodeoxycholate {ECO:0000269|PubMed:16332456}; KM=9.5 uM for taurolithocholate sulfate {ECO:0000269|PubMed:16332456}; KM=4.61 uM for taurocholate {ECO:0000269|PubMed:15791618}; KM=4.64 uM for taurocholate {ECO:0000269|PubMed:15901796}; KM=124 uM for pravastatin {ECO:0000269|PubMed:15901796}; KM=19.9 uM for taurocholate {ECO:0000269|PubMed:18985798}; Vmax=232 pmol/min/mg enzyme for taurocholate transport {ECO:0000269|PubMed:17264802}; Vmax=2510 pmol/min/mg enzyme for taurocholate transport {ECO:0000269|PubMed:16332456}; Vmax=2310 pmol/min/mg enzyme for taurocholate transport {ECO:0000269|PubMed:15791618}; Vmax=4290 pmol/min/mg enzyme for taurocholate transport {ECO:0000269|PubMed:15901796}; Vmax=1220 pmol/min/mg enzyme for pravastatin transport {ECO:0000269|PubMed:15901796}; Vmax=98.5 pmol/min/mg enzyme for taurocholate transport {ECO:0000269|PubMed:18985798};
UniProtKB/Swiss-Prot EnzymeRegulation:
The uptake of taurocholate is inhibited by taurolithocholate sulfate with an IC(50) of 9 uM (PubMed:16332456). Pravastatin competitively inhibits the transport of taurocholic acid (PubMed:18985798, PubMed:15901796). Cyclosporin A, glibenclamide, rifampicin and troglitazonestrongly competitively inhibit the transport activity of taurocholate (PubMed:18985798, PubMed:32203132). The canalicular transport activity of taurocholate is strongly dependent on canalicular membrane cholesterol content (PubMed:19228692). The uptake of taurocholate is increased by short- and medium-chain fatty acids (PubMed:20398791). Cholesterol increases transport capacity of taurocholate without affecting the affinity for the substrate (PubMed:24711118).
GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily B (MDR/TAP) member 11,expressed in the canalicular microvilli and subcanicular vesicles of the hepatocytes

Enzyme Numbers (IUBMB) for ABCB11 Gene

Phenotypes From GWAS Catalog for ABCB11 Gene

Gene Ontology (GO) - Molecular Function for ABCB11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005215 transporter activity TAS 9806540
GO:0005515 protein binding IPI 22262466
GO:0005524 ATP binding IEA --
GO:0008554 sodium-exporting ATPase activity, phosphorylative mechanism TAS 9806540
genes like me logo Genes that share ontologies with ABCB11: view
genes like me logo Genes that share phenotypes with ABCB11: view

Human Phenotype Ontology for ABCB11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCB11 Gene

MGI Knock Outs for ABCB11:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB11

No data available for Transcription Factor Targets and HOMER Transcription for ABCB11 Gene

Localization for ABCB11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCB11 Gene

Apical cell membrane. Multi-pass membrane protein. Recycling endosome membrane. Multi-pass membrane protein. Endosome. Cell membrane. Multi-pass membrane protein. Note=Internalized at the canalicular membrane through interaction with the adapter protein complex 2 (AP-2) (PubMed:22262466). At steady state, localizes in the canalicular membrane but is also present in recycling endosomes. ABCB11 constantly and rapidly exchanges between the two sites through tubulo-vesicles carriers that move along microtubules. Microtubule-dependent trafficking of ABCB11 is enhanced by taurocholate and cAMP and regulated by STK11 through a PKA-mediated pathway. Trafficking of newly synthesized ABCB11 through endosomal compartment to the bile canalicular membrane is accelerated by cAMP but not by taurocholate (By similarity). Cell membrane expression is up-regulated by short- and medium-chain fatty acids (PubMed:20398791). {ECO:0000250 UniProtKB:O70127, ECO:0000269 PubMed:20398791, ECO:0000269 PubMed:22262466}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCB11 gene
Compartment Confidence
plasma membrane 5
extracellular 4
endosome 4
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABCB11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA,ISS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9806540
GO:0009986 cell surface IMP 15791618
GO:0016020 membrane IEA,TAS 9806540
genes like me logo Genes that share ontologies with ABCB11: view

Pathways & Interactions for ABCB11 Gene

genes like me logo Genes that share pathways with ABCB11: view

Interacting Proteins for ABCB11 Gene

Gene Ontology (GO) - Biological Process for ABCB11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006631 fatty acid metabolic process IEA,ISS --
GO:0006699 bile acid biosynthetic process TAS --
GO:0006855 drug transmembrane transport ISS --
GO:0008206 bile acid metabolic process ISS --
GO:0015721 bile acid and bile salt transport IEA,TAS --
genes like me logo Genes that share ontologies with ABCB11: view

No data available for SIGNOR curated interactions for ABCB11 Gene

Drugs & Compounds for ABCB11 Gene

(141) Drugs for ABCB11 Gene - From: DrugBank, ClinicalTrials, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Transporter, substrate, inhibitor, inducer 0
Daunorubicin Approved Pharma Transporter, substrate DNA topoisomerase II inhibitor 399
deoxycholic acid Approved Pharma Transporter, inducer 51
Dexamethasone Approved, Investigational, Vet_approved Pharma Transporter, inducer Anti-inflammatory glucocorticoid 3149
Doxorubicin Approved, Investigational Pharma Transporter, substrate Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2106

(102) Additional Compounds for ABCB11 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid
  • (3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-glucopyranosiduronate
  • Chenodeoxycholic acid 3-glucuronide
  • Chenodeoxycholic acid-3-b-D-glucuronide
  • Chenodeoxycholic acid-3-beta-delta-glucuronide
58814-71-4
1,3,12-Trihydroxycholan-24-oic acid
  • 1,3,12-Trihydroxycholan-24-Oate
  • 1,3,12-Trihydroxy-5b-cholanoate
  • 1,3,12-Trihydroxy-5b-cholanoic acid
  • 1,3,12-Trihydroxy-cholan-24-Oate
  • 1,3,12-Trihydroxy-cholan-24-Oic acid
63266-91-1
1,3,7,12-Tetrahydroxycholan-24-oic acid
  • 1,3,7,12-Tetrahydroxycholan-24-Oate
  • 1,3,7,12-Tetrahydroxy-cholan-24-Oate
  • 1,3,7,12-Tetrahydroxy-cholan-24-Oic acid
  • 1,3,7,12-Tetrahydroxycholanoate
  • 1,3,7,12-Tetrahydroxycholanoic acid
63266-89-7
12a-Hydroxy-3-oxocholadienic acid
  • 12a-Hydroxy-3-oxocholadienate
  • 12a-Hydroxy-3-oxo-4,6-choladien-24-Oate
  • 12a-Hydroxy-3-oxo-4,6-choladien-24-Oic acid
  • 12a-Hydroxy-3-oxo-chola-4,6-dienate
  • 12a-Hydroxy-3-oxo-chola-4,6-dienic acid
13535-96-1
12b-Hydroxy-5b-cholanoic acid
  • 12b-Hydroxy-5b-cholanoate
  • 12-Hydroxy-(5b,12b)-cholan-24-Oate
  • 12-Hydroxy-(5b,12b)-cholan-24-Oic acid
  • 12b-Hydroxy-5b-cholan-24-Oate
  • 12b-Hydroxy-5b-cholan-24-Oic acid
15173-23-6

(3) ApexBio Compounds for ABCB11 Gene

Compound Action Cas Number
Elacridar BCRP inhibitor 143664-11-3
LY335979 (Zosuquidar 3HCL) Pgp (P-glycoprotein) inhibitor 167465-36-3
Tariquidar P-glycoprotein inhibitor,potent and non-competitive 206873-63-4
genes like me logo Genes that share compounds with ABCB11: view

Drug products for research

Transcripts for ABCB11 Gene

mRNA/cDNA for ABCB11 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB11

Alternative Splicing Database (ASD) splice patterns (SP) for ABCB11 Gene

No ASD Table

Relevant External Links for ABCB11 Gene

GeneLoc Exon Structure for
ABCB11

Expression for ABCB11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABCB11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCB11 Gene

This gene is overexpressed in Liver (x34.7) and Testis (x4.7).

Protein differential expression in normal tissues from HIPED for ABCB11 Gene

This gene is overexpressed in Urine (18.7), Liver (17.7), Placenta (8.3), and Gallbladder (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABCB11 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCB11

SOURCE GeneReport for Unigene cluster for ABCB11 Gene:

Hs.658439

mRNA Expression by UniProt/SwissProt for ABCB11 Gene:

O95342-ABCBB_HUMAN
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.

Evidence on tissue expression from TISSUES for ABCB11 Gene

  • Liver(4.8)
  • Gall bladder(2.5)
  • Intestine(2.3)
  • Kidney(2.3)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCB11 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • esophagus
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with ABCB11: view

Primer products for research

No data available for Protein tissue co-expression partners for ABCB11 Gene

Orthologs for ABCB11 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABCB11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ABCB11 29 30
  • 99.22 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ABCB11 29 30
  • 89.15 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ABCB11 29 30
  • 88.87 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Abcb11 29 16 30
  • 83.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Abcb11 29
  • 83.07 (n)
Oppossum
(Monodelphis domestica)
Mammalia ABCB11 30
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ABCB11 30
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ABCB11 29 30
  • 74.29 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 76 (a)
OneToMany
-- 30
  • 74 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100489579 29
  • 70.71 (n)
Zebrafish
(Danio rerio)
Actinopterygii abcb11b 29 30
  • 67.73 (n)
OneToOne
Dr.28700 29
Fruit Fly
(Drosophila melanogaster)
Insecta Mdr50 30 31
  • 39 (a)
ManyToMany
Mdr49 30
  • 39 (a)
ManyToMany
Mdr65 30 31
  • 38 (a)
ManyToMany
CG10226 30 31
  • 36 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea pgp-1 31
  • 39 (a)
pgp-2 31
  • 38 (a)
pgp-4 30 31
  • 37 (a)
ManyToMany
pgp-12 31
  • 36 (a)
pgp-5 31
  • 35 (a)
pgp-15 31
  • 35 (a)
pgp-13 31
  • 34 (a)
pgp-10 31
  • 34 (a)
pgp-6 31
  • 33 (a)
pgp-7 31
  • 33 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE6 30
  • 24 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 52 (a)
OneToOne
Species where no ortholog for ABCB11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ABCB11 Gene

ENSEMBL:
Gene Tree for ABCB11 (if available)
TreeFam:
Gene Tree for ABCB11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABCB11: view image
Alliance of Genome Resources:
Additional Orthologs for ABCB11

Paralogs for ABCB11 Gene

(15) SIMAP similar genes for ABCB11 Gene using alignment to 3 proteins:

  • ABCBB_HUMAN
  • H7C486_HUMAN
  • Q53S60_HUMAN
genes like me logo Genes that share paralogs with ABCB11: view

Variants for ABCB11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCB11 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1014336 Uncertain Significance: not provided 168,972,043(-) A/T
NM_003742.4(ABCB11):c.1442T>A (p.Val481Glu)
MISSENSE
1028652 Pathogenic: Benign recurrent intrahepatic cholestasis type 2 168,944,726(-) CT/C
NM_003742.4(ABCB11):c.2488del (p.Arg830fs)
FRAMESHIFT
1033612 Pathogenic: Benign recurrent intrahepatic cholestasis type 2 168,923,655(-) G/T
NM_003742.4(ABCB11):c.3933C>A (p.Tyr1311Ter)
NONSENSE
837780 Likely Pathogenic: Progressive familial intrahepatic cholestasis 2; not provided 168,957,963(-) C/A
NM_003742.4(ABCB11):c.2343+1G>T
SPLICE_DONOR
841658 Pathogenic: not provided 168,970,199(-) AC/A
NM_003742.4(ABCB11):c.1654del (p.Val552fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ABCB11 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ABCB11 Gene

Variant ID Type Subtype PubMed ID
dgv2089n106 CNV deletion 24896259
dgv4103n100 CNV loss 25217958
esv1429755 CNV insertion 17803354
esv1679312 CNV insertion 17803354
esv2721109 CNV deletion 23290073
esv3419131 CNV duplication 20981092
esv3560510 CNV deletion 23714750
esv8790 CNV loss 19470904
nsv1000245 CNV loss 25217958
nsv1013528 CNV gain 25217958
nsv1072044 CNV deletion 25765185
nsv1120388 CNV tandem duplication 24896259
nsv459943 CNV loss 19166990
nsv583599 CNV gain 21841781
nsv583600 CNV loss 21841781
nsv583601 CNV loss 21841781

Variation tolerance for ABCB11 Gene

Residual Variation Intolerance Score: 8.45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.71; 66.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCB11 Gene

Human Gene Mutation Database (HGMD)
ABCB11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCB11
Leiden Open Variation Database (LOVD)
ABCB11

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCB11 Gene

Disorders for ABCB11 Gene

MalaCards: The human disease database

(44) MalaCards diseases for ABCB11 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ABCBB_HUMAN
  • 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. {ECO:0000269 PubMed:10579978, ECO:0000269 PubMed:11815775, ECO:0000269 PubMed:15791618, ECO:0000269 PubMed:18829893, ECO:0000269 PubMed:20010382, ECO:0000269 PubMed:24969679, ECO:0000269 PubMed:29507376, ECO:0000269 PubMed:9806540}. Note=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. {ECO:0000269 PubMed:15300568, ECO:0000269 PubMed:16039748, ECO:0000269 PubMed:24711118}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ABCB11

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ABCB11: view

No data available for Genatlas for ABCB11 Gene

Publications for ABCB11 Gene

  1. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. (PMID: 9806540) Strautnieks SS … Thompson RJ (Nature genetics 1998) 2 3 4 22 72
  2. Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability. (PMID: 20010382) Ho RH … Kim RB (Pharmacogenetics and genomics 2010) 3 4 22 40
  3. Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. (PMID: 17264802) Lang C … Pauli-Magnus C (Pharmacogenetics and genomics 2007) 3 4 22 40
  4. Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11. (PMID: 15791618) Hayashi H … Sugiyama Y (Hepatology (Baltimore, Md.) 2005) 3 4 22 72
  5. Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. (PMID: 16039748) Noe J … Pauli-Magnus C (Journal of hepatology 2005) 3 4 22 72

Products for ABCB11 Gene

Sources for ABCB11 Gene