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Aliases for ABCB11 Gene

Aliases for ABCB11 Gene

  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 11 2 3
  • BSEP 3 4 6
  • Progressive Familial Intrahepatic Cholestasis 2 2 3
  • ATP-Binding Cassette Sub-Family B Member 11 3 4
  • Bile Salt Export Pump 2 3
  • BRIC2 3 6
  • PFIC2 3 6
  • SPGP 3 6
  • ABC Member 16, MDR/TAP Subfamily 3
  • Sister P-Glycoprotein 3
  • MDR/TAP Subfamily 2
  • ABC Member 16 2
  • EC 3.6.3.44 64
  • EC 3.6.3 64
  • PFIC-2 3
  • ABC16 3
  • PGY4 3

External Ids for ABCB11 Gene

Previous Symbols for ABCB11 Gene

  • BSEP
  • PFIC2

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, Sub-Family B (MDR/TAP), Member 11) is a Protein Coding gene. Diseases associated with ABCB11 include cholestasis, benign recurrent intrahepatic, 2 and cholestasis, progressive familial intrahepatic 2. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include transporter activity and sodium-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ABCB1.

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

Genomic Location for ABCB11 Gene

Start:
168,922,826 bp from pter
End:
169,031,323 bp from pter
Size:
108,498 bases
Orientation:
Minus strand

Genomic View for ABCB11 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCB11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCB11 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn109, Asn116, Asn122, and Asn125

Other Protein References for ABCB11 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ABCB11 Gene

Gene Families for ABCB11 Gene

HGNC:
  • ABCB :ATP binding cassette transporters / subfamily B
IUPHAR :

Protein Domains for ABCB11 Gene

UniProtKB/Swiss-Prot:

ABCBB_HUMAN
Domain:
  • Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain:
    • O95342
  • Contains 2 ABC transmembrane type-1 domains.:
    • O95342
  • Contains 2 ABC transporter domains.:
    • O95342
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.:
    • O95342
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:0005524 ATP binding IEA --
GO:0008554 sodium-exporting ATPase activity, phosphorylative mechanism TAS 9806540
GO:0015126 canalicular bile acid transmembrane transporter activity IBA --
GO:0015432 bile acid-exporting ATPase activity TAS 9806540
genes like me logo Genes that share ontologies with ABCB11: view
genes like me logo Genes that share phenotypes with ABCB11: view

Animal Models for ABCB11 Gene

MGI Knock Outs for ABCB11:

miRNA for ABCB11 Gene

miRTarBase miRNAs that target ABCB11

No data available for Transcription Factor Targeting 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
plasma membrane 4
golgi apparatus 3
nucleus 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ABCB11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9806540
GO:0016020 membrane TAS 9806540
GO:0016021 integral component of membrane IBA --
GO:0045177 apical part of cell IEA --
genes like me logo Genes that share ontologies with ABCB11: view

Pathways 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:0006200 obsolete ATP catabolic process --
GO:0006699 bile acid biosynthetic process TAS --
GO:0006810 transport TAS 9806540
GO:0008206 bile acid metabolic process TAS --
GO:0015721 bile acid and bile salt transport TAS --
genes like me logo Genes that share ontologies with ABCB11: view

Compounds for ABCB11 Gene

(85) HMDB Compounds for ABCB11 Gene

Compound Synonyms Cas Number PubMed IDs
(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid
  • Chenodeoxycholic acid 3-glucuronide
58814-71-4
1,3,12-Trihydroxycholan-24-oic acid
  • 1,3,12-Trihydroxycholan-24-oate
63266-91-1
1,3,7,12-Tetrahydroxycholan-24-oic acid
  • 1,3,7,12-Tetrahydroxycholan-24-oate
63266-89-7
12a-Hydroxy-3-oxocholadienic acid
  • 12a-Hydroxy-3-oxo-4,6-choladien-24-oate
13535-96-1
12b-Hydroxy-5b-cholanoic acid
  • 12b-Hydroxy-5b-cholanic acid
15173-23-6

(36) Drugbank Compounds for ABCB11 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine triphosphate
  • 5'-ATP
56-65-5 target
Bosentan
147536-97-8 transporter inhibitor
Chlorpromazine
50-53-3 transporter inhibitor
Cholic Acid
81-25-4 transporter substrate inhibitor inducer
Cimetidine
51481-61-9 transporter inhibitor

(74) Novoseek inferred chemical compound relationships for ABCB11 Gene

Compound -log(P) Hits PubMed IDs
bodipy-verapamil 84 2
vinblastine 81.1 11
verapamil 77.3 13
azidopine 74 1
gf 120918 73.3 2
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 (34.7) and Testis (4.7).

Integrated Proteomics: protein expression 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 expressions with ABCB11: view

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 36
  • 99.22 (n)
  • 99.32 (a)
ABCB11 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABCB11 36
  • 88.87 (n)
  • 88.27 (a)
ABCB11 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCB11 36
  • 89.15 (n)
  • 89.63 (a)
ABCB11 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcb11 36
  • 83.14 (n)
  • 82.03 (a)
Abcb11 16
Abcb11 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCB11 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCB11 37
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcb11 36
  • 83.07 (n)
  • 82.56 (a)
chicken
(Gallus gallus)
Aves ABCB11 36
  • 74.29 (n)
  • 74.92 (a)
ABCB11 37
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 76 (a)
OneToMany
-- 37
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489579 36
  • 70.71 (n)
  • 72.99 (a)
zebrafish
(Danio rerio)
Actinopterygii abcb11b 36
  • 67.73 (n)
  • 72.42 (a)
abcb11b 37
  • 70 (a)
OneToOne
Dr.28700 36
fruit fly
(Drosophila melanogaster)
Insecta CG10226 37
  • 36 (a)
ManyToMany
Mdr49 37
  • 39 (a)
ManyToMany
Mdr50 37
  • 39 (a)
ManyToMany
Mdr65 37
  • 38 (a)
ManyToMany
Mdr50 38
  • 39 (a)
Mdr65 38
  • 38 (a)
CG10226 38
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea pgp-4 37
  • 37 (a)
ManyToMany
pgp-5 38
  • 35 (a)
pgp-2 38
  • 38 (a)
pgp-4 38
  • 38 (a)
pgp-10 38
  • 34 (a)
pgp-7 38
  • 33 (a)
pgp-13 38
  • 34 (a)
pgp-1 38
  • 39 (a)
pgp-6 38
  • 33 (a)
pgp-12 38
  • 36 (a)
pgp-15 38
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE6 37
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs472614 -- 168,935,911(+) GCCAG(A/G)AAACT intron-variant
rs473351 -- 168,923,386(-) TCCAT(A/C/G/T)TGAGG utr-variant-3-prime
rs478333 -- 168,922,646(-) GATGC(C/T)ACCTG downstream-variant-500B
rs479682 -- 168,938,177(-) CACAT(A/G)GGAAT intron-variant
rs480562 -- 168,938,261(-) TGTGA(A/T)TAATT intron-variant

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

Relevant External Links for ABCB11 Gene

HapMap Linkage Disequilibrium report
ABCB11
Human Gene Mutation Database (HGMD)
ABCB11
Locus Specific Mutation Databases (LSDB)
ABCB11

Disorders for ABCB11 Gene

(2) OMIM Diseases for ABCB11 Gene (603201)

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:9806540}. Note=The disease is caused by mutations 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for ABCB11 Gene

(32) Novoseek inferred disease relationships for ABCB11 Gene

Disease -log(P) Hits PubMed IDs
pfic2 92.7 18
pfic3 88.3 3
cholestasis intrahepatic 84.9 24
byler disease 83.1 6
colchicine resistance 73.6 2

Relevant External Links for ABCB11

GeneTests
ABCB11
GeneReviews
ABCB11
Genetic Association Database (GAD)
ABCB11
Human Genome Epidemiology (HuGE) Navigator
ABCB11
genes like me logo Genes that share disorders with ABCB11: view

Publications for ABCB11 Gene

  1. 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 4 23
  2. Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. (PMID: 15077010) Pauli-Magnus C. … Kullak-Ublick G.A. (Pharmacogenetics 2004) 3 4 23 49
  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. (Pharmacogenet. Genomics 2007) 3 4 23 49
  4. Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones, and controls. (PMID: 19408031) Acalovschi M. … Lammert F. (Lipids 2009) 3 23 49
  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. (J. Hepatol. 2005) 3 4 23

Products for ABCB11 Gene

Sources for ABCB11 Gene

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