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
  • BSEP 3 4
  • Sister P-Glycoprotein 3
  • EC 3.6.3.44 54
  • EC 7.6.2.- 4
  • EC 3.6.3 54
  • 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 Nuclear Receptors in Lipid Metabolism and Toxicity and Metabolism. 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 secretion of conjugated bile salts across the canalicular membrane of hepatocytes in an ATP-dependent manner (PubMed:16332456). Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts (PubMed:16332456).

Gene Wiki entry for ABCB11 Gene

Additional gene information 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 for ABCB11 Gene

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 750.6 +3.5 3546 0.1 FOXA1 RAD21 SP1 RXRA FOXA2 NFE2 JUND ATF3 YY1 ZBTB33 ABCB11 piR-38051-168
GH02J169034 Enhancer 0.8 Ensembl 750.6 +0.2 189 1 SMARCE1 CC2D1A L3MBTL2 TEAD4 CBFA2T2 SMARCA4 TRIM24 REST HDAC1 LEF1 ABCB11 DHRS9 piR-38051-168
GH02J169069 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE 11.2 -37.1 -37102 5.2 FOXA1 SMARCE1 MYC CC2D1A MAX RAD21 TEAD4 SP1 CBFA2T2 ZSCAN21 DHRS9 PPIG ENSG00000235321 ABCB11 PHOSPHO2 HSALNG0020231
GH02J169010 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.3 +22.8 22789 3 MLX FOXA1 RBPJ SMARCE1 RUNX1 CC2D1A L3MBTL2 DACH1 ZNF121 TEAD4 PPIG BBS5 ABCB11 CCDC173 SSB ENSG00000235321 piR-38051-168 lnc-SPC25-2
GH02J168961 Enhancer 1 Ensembl ENCODE 10.4 +72.6 72618 1.5 CTCF MIXL1 CC2D1A RAD21 TEAD4 ELF3 SP1 CEBPG PRDM1 PPARG ENSG00000235321 PPIG BBS5 ABCB11 G6PC2 lnc-SPC25-2 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ABCB11 Gene
chr2:168,915,498-169,034,890
(GRCh38/hg38)
Size:
119,393 bases
Orientation:
Minus strand
chr2:169,779,448-169,887,833
(GRCh37/hg19)
Size:
108,386 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

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

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

Antibody Products

  • 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 secretion of conjugated bile salts across the canalicular membrane of hepatocytes in an ATP-dependent manner (PubMed:16332456). Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts (PubMed:16332456).
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50049; Evidence=. ;.
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50053; Evidence=. ;.
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50057; Evidence=. ;.
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50061; Evidence=. ;.
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50065; Evidence=. ;.
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50069; Evidence=. ;.
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50073; Evidence=. ;.
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50081; Evidence=. ;.
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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50085; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
The uptake of taurocholate is inhibited by taurolithocholate sulfate with an IC(50) of 9 uM.
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}; 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};
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: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 21873635
GO:0015432 bile acid-exporting ATPase activity TAS --
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

Clone 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
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
nucleus 3
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 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:0005886 plasma membrane TAS,IBA --
GO:0005887 integral component of plasma membrane TAS 9806540
GO:0016020 membrane IEA,TAS 9806540
GO:0016021 integral component of membrane IBA,IEA 21873635
GO:0045177 apical part of cell IEA --
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:0006699 bile acid biosynthetic process TAS --
GO:0015721 bile acid and bile salt transport IEA,TAS --
GO:0015722 canalicular bile acid transport IBA 21873635
GO:0035725 sodium ion transmembrane transport IEA --
GO:0055085 transmembrane transport IEA --
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

(134) Drugs for ABCB11 Gene - From: DrugBank, ApexBio, 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 DNA topoisomerase II inhibitor 354
deoxycholic acid Approved Pharma Antagonist, Full agonist, Agonist, Transporter, inducer 47
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist, Transporter, inducer Anti-inflammatory glucocorticoid 2680
Doxorubicin Approved, Investigational Pharma Transporter, substrate Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2016

(101) 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-Tetrahydroxycholanoate
  • 1,3,7,12-Tetrahydroxycholanoic acid
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

(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

Transcripts for ABCB11 Gene

mRNA/cDNA for ABCB11 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(21) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of ABCB11 Gene:

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)

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

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 33 32
  • 99.22 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABCB11 33 32
  • 89.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABCB11 33 32
  • 88.87 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abcb11 17 33 32
  • 83.14 (n)
rat
(Rattus norvegicus)
Mammalia Abcb11 32
  • 83.07 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCB11 33
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCB11 33
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCB11 33 32
  • 74.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 76 (a)
OneToMany
-- 33
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489579 32
  • 70.71 (n)
zebrafish
(Danio rerio)
Actinopterygii abcb11b 33 32
  • 67.73 (n)
OneToOne
Dr.28700 32
fruit fly
(Drosophila melanogaster)
Insecta Mdr50 33 34
  • 39 (a)
ManyToMany
Mdr49 33
  • 39 (a)
ManyToMany
Mdr65 33 34
  • 38 (a)
ManyToMany
CG10226 33 34
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea pgp-1 34
  • 39 (a)
pgp-2 34
  • 38 (a)
pgp-4 33 34
  • 37 (a)
ManyToMany
pgp-12 34
  • 36 (a)
pgp-5 34
  • 35 (a)
pgp-15 34
  • 35 (a)
pgp-10 34
  • 34 (a)
pgp-13 34
  • 34 (a)
pgp-7 34
  • 33 (a)
pgp-6 34
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE6 33
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 52 (a)
OneToOne
Species where no ortholog for ABCB11 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ABCB11: view image

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 from dbSNP and Humsavar for ABCB11 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1014304470 likely-benign, uncertain-significance, not specified, not provided 168,944,650(-) T/C coding_sequence_variant, synonymous_variant
rs1026511416 pathogenic, likely-pathogenic, not provided 168,996,703(-) C/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, stop_gained, upstream_transcript_variant
rs1060499579 pathogenic, Benign recurrent intrahepatic cholestasis 2, Progressive familial intrahepatic cholestasis 2, not provided 168,944,925(-) G/A/T coding_sequence_variant, missense_variant, stop_gained
rs1064797270 pathogenic-likely-pathogenic, not provided 168,969,394(-) AAA/A coding_sequence_variant, frameshift
rs113099601 uncertain-significance, likely-benign, Familial Intrahepatic Cholestasis, not specified 168,930,746(-) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant

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

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

Disorders for ABCB11 Gene

MalaCards: The human disease database

(22) MalaCards diseases for ABCB11 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

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:24969679, 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.

Additional Disease Information for ABCB11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Pharmacogenetics and genomics 2007) 3 4 23 43 56
  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 GA (Pharmacogenetics 2004) 3 4 23 43 56
  3. 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 23 56
  4. 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 23 43 56
  5. 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 43 56

Products for ABCB11 Gene

Sources for ABCB11 Gene