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ABCB11 Gene(Protein Coding)

ATP Binding Cassette Subfamily B Member 11

GCID:
GC02M168922
GIFtS:
53
Genes Participants
UDN Logo

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
  • ABC Member 16, MDR/TAP Subfamily 2 3
  • Bile Salt Export Pump 2 3
  • BSEP 3 4
  • Sister P-Glycoprotein 3
  • 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 Hepatic ABC Transporters 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 for ABCB11 Gene

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

Gene Wiki entry for ABCB11 Gene

Additional gene information for ABCB11 Gene

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

Genomics for ABCB11 Gene

Products:

  1. Regulatory Element

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 1 EPDnew 650.7 +3.5 3546 0.1 FOXA2 TAF1 BACH1 MAX RAD21 YY1 EGR1 HNF4G NFE2 RXRA ABCB11 SPC25
GH02J169069 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE 11.2 -37.2 -37170 5.7 HDGF ATF1 PKNOX1 FOXA2 ARNT YY1 TCF12 ZNF766 ATF7 FOS DHRS9 PPIG ENSG00000235321 ABCB11 PHOSPHO2
GH02J169010 Enhancer 1.4 Ensembl ENCODE dbSUPER 12.3 +22.8 22794 2.9 PKNOX1 SMAD1 FOXA2 ARNT ARID4B FEZF1 ZNF2 YY1 ZNF766 CBX5 ABCB11 SSB ENSG00000235321 SPC25
GH02J169095 Enhancer 1.1 Ensembl ENCODE 10.3 -60.9 -60911 0.8 TCF12 ZNF766 GATA2 ATF7 FOS MBD2 SMARCA4 MYNN NBN HMBOX1 ABCB11 DHRS9 ENSG00000235321
GH02J168991 Enhancer 1 Ensembl ENCODE dbSUPER 11.2 +42.4 42395 1.8 RXRA MAX CEBPB CEBPG EP300 RAD21 YY1 SP1 ZNF316 ATF3 ABCB11 SPC25
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABCB11 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ABCB11 Gene

Genomic Locations for ABCB11 Gene
chr2:168,922,802-169,034,890
(GRCh38/hg38)
Size:
112,089 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 Structure • Gene Density

RefSeq DNA sequence for ABCB11 Gene

Proteins for ABCB11 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ABCB11 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ABCB11 Gene

  • Glycosylation at posLast=125125, Asn122, Asn116, and Asn109
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCB11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ABCB11 Gene

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:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ABCB11 Gene

UniProtKB/Swiss-Prot Function:
Involved in the ATP-dependent secretion of bile salts into the canaliculus of 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};
GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily B (MDR/TAP) member 11,expressed in the canalicular microvilli and subcanicular vesicles of the hepatocytes

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 --
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
extracellular 5
nucleus 3
cytosol 3
peroxisome 2
cytoskeleton 1
mitochondrion 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 --
GO:0005887 integral component of plasma membrane TAS 9806540
GO:0016020 membrane TAS 9806540
GO:0016021 integral component of membrane IEA,IBA --
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

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 TAS,IEA --
GO:0015722 canalicular bile acid transport IBA --
GO:0035725 sodium ion transmembrane transport IEA --
GO:0055085 transmembrane transport IEA,IBA --
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

Products:

  1. Drug

(83) 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 DNA topoisomerase II inhibitor 291
deoxycholic acid Approved Pharma Antagonist, Full agonist, Agonist, Transporter, inducer 43
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist, Transporter, inducer Anti-inflammatory glucocorticoid 2314
Doxorubicin Approved, Investigational Pharma Transporter, substrate Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1828

(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

Drug Products

Transcripts for ABCB11 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ABCB11 Gene

(9) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(21) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ABCB11 Gene

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

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

Products:

  1. Primer
  2. Gene Expression Assay

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

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

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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ABCB11 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1060499579 pathogenic, Benign recurrent intrahepatic cholestasis 2, Progressive familial intrahepatic cholestasis 2 168,944,925(-) G/A/T coding_sequence_variant, missense_variant, stop_gained
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
rs11568359 benign, likely-benign, not specified, Familial Intrahepatic Cholestasis 168,930,818(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs11568363 benign, likely-benign, not specified, Familial Intrahepatic Cholestasis 169,013,264(-) C/T genic_upstream_transcript_variant, intron_variant
rs11568364 benign, likely-benign, not specified, Familial Intrahepatic Cholestasis 168,968,473(-) T/C coding_sequence_variant, missense_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

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

Disorder Aliases PubMed IDs
cholestasis, progressive familial intrahepatic, 2
  • pfic2
cholestasis, benign recurrent intrahepatic, 2
  • bric2
intrahepatic cholestasis
  • intrahepatic cholestasis of pregnancy
cholestasis
  • bile occlusion
liver disease
  • disorder of liver
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ABCBB_HUMAN
  • Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. {ECO:0000269 PubMed:10579978, ECO:0000269 PubMed:11815775, ECO:0000269 PubMed: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 22 44 58
  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 22 44 58
  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 22 58
  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 22 44 58
  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 22 44 58

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