Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ABCB11 Gene

Aliases for ABCB11 Gene

  • ATP Binding Cassette Subfamily B Member 11 2 3 5
  • 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
  • BSEP 3 4
  • ABC Member 16, MDR/TAP Subfamily 3
  • Bile Salt Export Pump 2
  • Sister P-Glycoprotein 3
  • MDR/TAP Subfamily 2
  • ABC Member 16 2
  • EC 3.6.3.44 63
  • EC 3.6.3 63
  • PFIC-2 3
  • ABC16 3
  • BRIC2 3
  • PFIC2 3
  • PGY4 3
  • SPGP 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 - Generalized, Pharmacokinetics and Bile secretion. 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 ABCB5.

UniProtKB/Swiss-Prot for ABCB11 Gene

  • Involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes.

Gene Wiki entry for ABCB11 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCB11 Gene

Genomics for ABCB11 Gene

Regulatory Elements for ABCB11 Gene

Enhancers for ABCB11 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ABCB11 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCB11 Gene

Chromosome:
2
Start:
168,922,802 bp from pter
End:
169,034,890 bp from pter
Size:
112,089 bases
Orientation:
Minus strand

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.

neXtProt entry for ABCB11 Gene

Proteomics data for ABCB11 Gene at MOPED

Post-translational modifications for ABCB11 Gene

  • Glycosylation at Asn 109, Asn 116, Asn 122, and Asn 125
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCB11 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ABCB11 Gene

Gene Families for ABCB11 Gene

Protein Domains for ABCB11 Gene

Suggested Antigen Peptide Sequences for ABCB11 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 2 ABC transmembrane type-1 domains.
  • Contains 2 ABC transporter domains.
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

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily B (MDR/TAP) member 11,expressed in the canalicular microvilli and subcanicular vesicles of the hepatocytes
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=30.4 uM for taurocholate {ECO:0000269 PubMed:17264802}; Vmax=232 pmol/min/mg enzyme for taurocholate transport {ECO:0000269 PubMed:17264802};
UniProtKB/Swiss-Prot Function:
Involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes.

Enzyme Numbers (IUBMB) for ABCB11 Gene

Gene Ontology (GO) - Molecular Function for ABCB11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 9806540
GO:0015126 canalicular bile acid transmembrane transporter activity IBA --
GO:0016887 ATPase activity IEA --
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:

Animal Model Products

CRISPR Products

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

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCB11 Gene COMPARTMENTS Subcellular localization image for ABCB11 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 3
nucleus 3
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ABCB11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 9806540
GO:0016020 membrane IEA,TAS 9806540
GO:0070062 extracellular exosome IDA 19056867
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

Gene Ontology (GO) - Biological Process for ABCB11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA,TAS 9806540
GO:0015722 canalicular bile acid transport IBA --
GO:0035725 sodium ion transmembrane transport TAS 9806540
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

(76) Drugs for ABCB11 Gene - From: DrugBank, ApexBio, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Full agonist, Agonist, Transporter, substrate, inhibitor, inducer 0
Daunorubicin Approved Pharma Transporter, substrate 254
deoxycholic acid Approved Pharma Antagonist, Transporter, inducer 39
Dexamethasone Approved, Investigational Pharma Agonist, Transporter, inducer 1950
Doxorubicin Approved, Investigational Pharma Transporter, substrate Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1649

(108) 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
  • 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-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
  • 1,3,12-Trihydroxycholan-24-oate
63266-91-1
1,3,7,12-Tetrahydroxycholan-24-oic acid
  • 1,3,7,12-Tetrahydroxy-Cholan-24-oate
  • 1,3,7,12-Tetrahydroxy-Cholan-24-oic acid
  • 1,3,7,12-Tetrahydroxycholan-24-oate
  • 1,3,7,12-Tetrahydroxycholan-24-oic acid
  • 1,3,7,12-Tetrahydroxycholanoate
63266-89-7
12a-Hydroxy-3-oxocholadienic acid
  • 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
  • 12a-Hydroxy-3-oxochola-4,6-dienate
13535-96-1
12b-Hydroxy-5b-cholanoic acid
  • 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
  • 12b-Hydroxy-5b-cholanic acid
15173-23-6

(2) ApexBio Compounds for ABCB11 Gene

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

Transcripts for ABCB11 Gene

Unigene Clusters for ABCB11 Gene

ATP-binding cassette, sub-family B (MDR/TAP), member 11:
Representative Sequences:

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

No ASD Table

Relevant External Links for ABCB11 Gene

GeneLoc Exon Structure for
ABCB11
ECgene alternative splicing isoforms for
ABCB11

Expression for ABCB11 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for ABCB11 Gene



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.
genes like me logo Genes that share expression patterns with ABCB11: view

Primer Products

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
cow
(Bos Taurus)
Mammalia ABCB11 35
  • 88.87 (n)
  • 88.27 (a)
ABCB11 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCB11 35
  • 89.15 (n)
  • 89.63 (a)
ABCB11 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcb11 35
  • 83.14 (n)
  • 82.03 (a)
Abcb11 16
Abcb11 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABCB11 35
  • 99.22 (n)
  • 99.32 (a)
ABCB11 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcb11 35
  • 83.07 (n)
  • 82.56 (a)
oppossum
(Monodelphis domestica)
Mammalia ABCB11 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCB11 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCB11 35
  • 74.29 (n)
  • 74.92 (a)
ABCB11 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 76 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489579 35
  • 70.71 (n)
  • 72.99 (a)
zebrafish
(Danio rerio)
Actinopterygii abcb11b 35
  • 67.73 (n)
  • 72.42 (a)
Dr.28700 35
abcb11b 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10226 37
  • 61 (a)
Mdr50 37
  • 39 (a)
Mdr65 37
  • 38 (a)
CG10226 36
  • 36 (a)
ManyToMany
Mdr49 36
  • 39 (a)
ManyToMany
Mdr50 36
  • 39 (a)
ManyToMany
Mdr65 36
  • 38 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea pgp-1 37
  • 39 (a)
pgp-10 37
  • 34 (a)
pgp-12 37
  • 36 (a)
pgp-13 37
  • 34 (a)
pgp-15 37
  • 35 (a)
pgp-2 37
  • 38 (a)
pgp-4 37
  • 38 (a)
pgp-5 37
  • 35 (a)
pgp-6 37
  • 33 (a)
pgp-7 37
  • 33 (a)
pgp-4 36
  • 37 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE6 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToOne
Species with no ortholog for ABCB11:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for ABCB11 Gene

Paralogs for ABCB11 Gene

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

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

Variants for ABCB11 Gene

Sequence variations from dbSNP and Humsavar for ABCB11 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_010271 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2)
VAR_010271 Cholestasis, progressive familial intrahepatic, 2 (PFIC2)
VAR_013332 Cholestasis, progressive familial intrahepatic, 2 (PFIC2)
rs2287622 -, -, - 168,973,818(-) CATGG(A/C/G/T)CATTA upstream-variant-2KB, reference, missense
VAR_013334 Cholestasis, progressive familial intrahepatic, 2 (PFIC2)

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

Variant ID Type Subtype PubMed ID
nsv459943 CNV Loss 19166990
nsv875382 CNV Loss 21882294
nsv875383 CNV Loss 21882294
esv1429755 CNV Insertion 17803354
esv1679312 CNV Insertion 17803354
nsv875384 CNV Gain 21882294
esv2721109 CNV Deletion 23290073
esv8790 CNV Loss 19470904

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)

Relevant External Links for ABCB11 Gene

Human Gene Mutation Database (HGMD)
ABCB11

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

Disorders for ABCB11 Gene

MalaCards: The human disease database

(20) MalaCards diseases for ABCB11 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cholestasis, progressive familial intrahepatic 2
  • progressive familial intrahepatic cholestasis type 2
cholestasis, benign recurrent intrahepatic, 2
  • benign recurrent intrahepatic cholestasis 2
abcb11-related intrahepatic cholestasis
  • bile salt export pump deficiency
intrahepatic cholestasis
  • intrahepatic cholestasis of pregnancy
cholestasis
  • bile occlusion
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ABCBB_HUMAN
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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:24969679, ECO:0000269 PubMed:9806540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ABCB11

Genetic Association Database (GAD)
ABCB11
Human Genome Epidemiology (HuGE) Navigator
ABCB11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCB11
genes like me logo Genes that share disorders with ABCB11: view

No data available for Genatlas for ABCB11 Gene

Publications for ABCB11 Gene

  1. 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. (Pharmacogenet. Genomics 2007) 3 4 23 48 67
  2. Fluorescent substrates of sister-P-glycoprotein (BSEP) evaluated as markers of active transport and inhibition: evidence for contingent unequal binding sites. (PMID: 12739759) Wang E.J. … Johnson W.W. (Pharm. Res. 2003) 23 25 26
  3. Cloning and expression of murine sister of P-glycoprotein reveals a more discriminating transporter than MDR1/P-glycoprotein. (PMID: 10617675) Lecureur V. … Schuetz J.D. (Mol. Pharmacol. 2000) 23 25 26
  4. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. (PMID: 9806540) Strautnieks S.S. … Thompson R.J. (Nat. Genet. 1998) 2 3 23
  5. The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver. (PMID: 9545351) Gerloff T. … Meier P.J. (J. Biol. Chem. 1998) 3 25 26

Products for ABCB11 Gene

Sources for ABCB11 Gene

Content