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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
External Ids for ABCB11 Gene
- HGNC: 42
- Entrez Gene: 8647
- Ensembl: ENSG00000073734
- OMIM: 603201
- UniProtKB: O95342
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
-
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).
Additional gene information for ABCB11 Gene
- Monarch Initiative
- Search for ABCB11 at DataMed
- Search for ABCB11 at HumanCyc
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
- 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:
-
- 2q31.1 by HGNC
- 2q31.1 by Entrez Gene
- 2q31.1 by Ensembl
ABCB11 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q53TL2
- Q9UNB2
Protein attributes for ABCB11 Gene
- Size:
- 1321 amino acids
- Molecular mass:
- 146407 Da
- Quaternary structure:
-
- Interacts with HAX1.
Protein Expression 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
Other Protein References for ABCB11 Gene
Antibody Products
- G Biosciences Immunotag™ ABCB11 Antibody
- NSJ Bioreagents ABCB11 Antibody
- Atlas Antibodies Anti-ABCB11 Antibody
-
Creative Biolabs
- Recombinant Anti-Human ABCB11 Antibody
- Recombinant Anti-Human ABCB11 Antibody Fab Fragment
- Recombinant Human Anti-ABCB11 Antibody Fab Fragment (Batist)
- Recombinant Human Anti-ABCB11 Antibody (Malimo)
- Recombinant Human Anti-ABCB11 Antibody Fab Fragment (Tweed)
- Mouse Anti-ABCB11 Recombinant Antibody (McAb-1)
- Recombinant Human Anti-ABCB11 Antibody (Batist)
- Hi-Affi™ Recombinant Rabbit Anti-ABCB11 Monoclonal Antibody (DS10AB)
- Recombinant Human Anti-ABCB11 Antibody (Tweed)
- Recombinant Human Anti-ABCB11 Antibody Fab Fragment (Malimo)
- Novus Biologicals Antibodies for ABCB11
-
Abcam antibodies for ABCB11
- Invitrogen Antibodies for ABCB11 (AFLGC-ABCB11)
-
Boster Bio Antibodies for ABCB11
-
Santa Cruz Biotechnology (SCBT) Antibodies for ABCB11
Protein Products
- Creative Biomart Recombinant Human ABCB11 protein, His & T7-tagged
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ABCB11
- Origene Custom Protein Services for ABCB11
- Novus Biologicals proteins for ABCB11
- antibodies-online: Show 8 available ABCB11 Proteins ranked by validation data
- Compare Top ABCB11 Proteins
-
Quality Products:
Assay Products
- G Biosciences Immunotag™ Bile salt export pump ELISA Kit
- Aviva Systems Biology ABCB11 ELISA Kit (Human) (OKEH03272)
- antibodies-online: Show 14 available ABCB11 Elisa Kits ranked by validation data
- Compare Top ABCB11 Elisa Kits
-
Quality Products:
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
Protein Domains for ABCB11 Gene
- InterPro:
- ProtoNet:
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
O95342UniProtKB/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.
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
| 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 | -- |
Phenotypes for ABCB11 Gene
- MGI mutant phenotypes for ABCB11:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ABCB11:
-
- Increased shRNA abundance (Z-score > 2)
- Dynamic nuclei (hole, folded or small irregular)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Mildly decreased CFP-tsO45G cell surface transport
Animal Models for ABCB11 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for ABCB11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABCB11
- genomics-online: gRNA clones - Search for available ABCB11 gRNA products
- Overview of 74 available ABCB11 gene related products
- Applied Biological Materials (abm): CRISPR Clones for ABCB11 - Select products 50% OFF >
- * ABCB11 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * ABCB11 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABCB11
miRNA for ABCB11 Gene
- miRTarBase miRNAs that target ABCB11
-
- hsa-mir-33a-5p (MIRT006901)
- hsa-mir-6807-5p (MIRT519041)
- hsa-mir-7151-3p (MIRT519042)
- hsa-mir-5095 (MIRT519043)
- hsa-mir-4745-3p (MIRT519044)
- hsa-mir-1538 (MIRT519045)
- hsa-mir-6720-3p (MIRT519046)
- hsa-mir-6504-3p (MIRT519047)
- hsa-mir-4433a-3p (MIRT519048)
- hsa-mir-4433b-3p (MIRT519049)
- hsa-mir-449b-3p (MIRT519050)
- hsa-mir-4700-3p (MIRT519051)
- hsa-mir-4307 (MIRT661008)
- hsa-mir-7152-5p (MIRT661010)
- hsa-mir-3074-5p (MIRT661011)
- hsa-mir-138-2-3p (MIRT661012)
- hsa-mir-1266-3p (MIRT661013)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ABCB11
- Browse OriGene Inhibitory RNA Products For ABCB11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB11
- genomics-online: shRNA clones - Search for available ABCB11 shRNA products
- Overview of 74 available ABCB11 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ABCB11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ABCB11
- genomics-online: cdna clones - Search for available ABCB11 CDNA products
- Overview of 74 available ABCB11 gene related products
- orf clones - Search for available ABCB11 ORF products
- Overview of 74 available ABCB11 gene related products
- Applied Biological Materials (abm): Clones for ABCB11 - Select products 50% OFF >
- * ABCB11 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * ABCB11 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines 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
- Membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 3 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
- Cytosol (1)
- Nucleoplasm (1)
- Plasma membrane (1)
| 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 | -- |
Pathways & Interactions for ABCB11 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Synthesis of bile acids and bile salts | ||
| 2 | Statin Pathway - Generalized, Pharmacokinetics | ||
| 3 | Metabolism |
.40
|
|
| 4 | CDK-mediated phosphorylation and removal of Cdc6 |
.31
|
|
| 5 | Bile secretion | ||
Pathways by source for ABCB11 Gene
3 BioSystems pathways for ABCB11 Gene
6 Reactome pathways for ABCB11 Gene
3 PharmGKB pathways for ABCB11 Gene
4 KEGG pathways for ABCB11 Gene
1 Qiagen pathway for ABCB11 Gene
- Hepatic ABC Transporters
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for ABCB11 Gene
Drugs & Compounds for ABCB11 Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid |
|
58814-71-4 |
|
|||
| 1,3,12-Trihydroxycholan-24-oic acid |
|
63266-91-1 |
|
|||
| 1,3,7,12-Tetrahydroxycholan-24-oic acid |
|
63266-89-7 |
|
|||
| 12a-Hydroxy-3-oxocholadienic acid |
|
13535-96-1 |
|
|||
| 12b-Hydroxy-5b-cholanoic 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 |
Drug Products
- Creative Biomart Recombinant Human ABCB11 protein, His & T7-tagged
- ApexBio compounds for ABCB11
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 :
-
- ENST00000648875 411 bps (ENST00000648875.1)
- ENST00000650372 6934 bps (ENST00000650372.1)
- ENST00000649448 2983 bps (ENST00000649448.1)
- ENST00000439188 2822 bps (ENST00000439188.1)
- ENST00000647920 452 bps (ENST00000647920.1)
CRISPR Products
-
OriGene CRISPR knockouts for ABCB11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABCB11
- genomics-online: gRNA clones - Search for available ABCB11 gRNA products
- Overview of 74 available ABCB11 gene related products
- Applied Biological Materials (abm): CRISPR Clones for ABCB11 - Select products 50% OFF >
- * ABCB11 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * ABCB11 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABCB11
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ABCB11
- Browse OriGene Inhibitory RNA Products For ABCB11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB11
- genomics-online: shRNA clones - Search for available ABCB11 shRNA products
- Overview of 74 available ABCB11 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ABCB11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ABCB11
- genomics-online: cdna clones - Search for available ABCB11 CDNA products
- Overview of 74 available ABCB11 gene related products
- orf clones - Search for available ABCB11 ORF products
- Overview of 74 available ABCB11 gene related products
- Applied Biological Materials (abm): Clones for ABCB11 - Select products 50% OFF >
- * ABCB11 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * ABCB11 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression for ABCB11 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
mRNA differential expression in normal tissues according to GTEx for ABCB11 Gene
This gene is overexpressed in Liver (x34.7) and Testis (x4.7).
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:
ABCB11SOURCE GeneReport for Unigene cluster for ABCB11 Gene:
Hs.658439mRNA 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
Primer Products
-
OriGene qPCR primer pairs for ABCB11
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ABCB11 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ABCB11 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ABCB11 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Abcb11 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Abcb11 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ABCB11 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ABCB11 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ABCB11 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
OneToMany | |
| -- 33 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100489579 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | abcb11b 33 32 |
|
OneToOne | |
| Dr.28700 32 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Mdr50 33 34 |
|
ManyToMany | |
| Mdr49 33 |
|
ManyToMany | |||
| Mdr65 33 34 |
|
ManyToMany | |||
| CG10226 33 34 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | pgp-1 34 |
|
|
|
| pgp-2 34 |
|
|
|||
| pgp-4 33 34 |
|
ManyToMany | |||
| pgp-12 34 |
|
|
|||
| pgp-5 34 |
|
|
|||
| pgp-15 34 |
|
|
|||
| pgp-10 34 |
|
|
|||
| pgp-13 34 |
|
|
|||
| pgp-7 34 |
|
|
|||
| pgp-6 34 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | STE6 33 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
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
Paralogs for ABCB11 Gene
(15) SIMAP similar genes for ABCB11 Gene using alignment to 3 proteins:
- ABCBB_HUMAN
- H7C486_HUMAN
- Q53S60_HUMAN
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCB11 Gene
Disorders for ABCB11 Gene
(22) MalaCards diseases for ABCB11 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cholestasis, progressive familial intrahepatic, 2 |
|
|
| cholestasis, benign recurrent intrahepatic, 2 |
|
|
| familial intrahepatic cholestasis |
|
|
| cholestasis, intrahepatic, of pregnancy, 1 |
|
|
| progressive familial intrahepatic cholestasis |
|
|
Search ABCB11 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for ABCB11 Gene
Publications for ABCB11 Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for ABCB11 Gene
- Custom Antibody Services
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- High-throughput Antibody Production Service
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- Novus Biologicals proteins for ABCB11
- Browse Antibodies
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- Santa Cruz Biotechnology (SCBT) CRISPR for ABCB11
- Horizon Cell Lines for ABCB11
- genomics-online: cdna clones - Search for available ABCB11 CDNA products
- Overview of 74 available ABCB11 gene related products
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- genomics-online: shRNA clones - Search for available ABCB11 shRNA products
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- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABCB11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ABCB11
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ABCB11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB11
- Boster Bio Antibodies for ABCB11
- Browse Boster Bio ELISA Kits
Sources for ABCB11 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource