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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 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]
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 Synthesis of bile acids and bile salts and Statin Pathway - Generalized, Pharmacokinetics. 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.
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 | 600.7 | +0.1 | 52 | 0.1 | REST SP1 NFE2 FOXA2 ATF3 YY1 GABPA ZBTB33 JUND NR2F2 | ABCB11 piR-38051-168 SPC25 | |
GH02J169032 | Enhancer | 0.7 | Ensembl | 600.7 | -0.1 | -105 | 0.2 | REST SP1 NFE2 FOXA2 ZNF316 ATF3 YY1 GABPA ZBTB33 JUND | ABCB11 DHRS9 | |
GH02J169069 | Promoter/Enhancer | 1.8 | EPDnew FANTOM5 Ensembl ENCODE | 11.2 | -40.6 | -40596 | 5.2 | REST ZNF629 LEF1 JUND PKNOX1 ZNF24 MTA1 SP1 BRD9 DPF2 | DHRS9 PPIG ENSG00000235321 ABCB11 PHOSPHO2 HSALNG0020231 LRP2 | |
GH02J168961 | Enhancer | 1 | Ensembl ENCODE | 10.5 | +69.1 | 69124 | 1.5 | CEBPG GATAD2A CTCF JUND PRDM1 RXRB REST NR2C1 RAD21 IRF2 | ENSG00000235321 ABCB11 G6PC2 lnc-SPC25-2 SPC25 | |
GH02J169095 | Enhancer | 0.9 | ENCODE | 10.3 | -64.4 | -64360 | 0.2 | IKZF1 JUND PRDM1 PHF21A ZNF24 MTA1 DPF2 HDAC1 ETV6 SOX6 | ABCB11 DHRS9 ENSG00000235321 HSALNG0020231 LRP2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
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 ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 9806540 |
GO:0016020 | membrane | IEA,TAS | 9806540 |
GO:0016021 | integral component of membrane | IEA,IBA | 21873635 |
GO:0045177 | apical part of cell | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Synthesis of bile acids and bile salts | ||
2 | Statin Pathway - Generalized, Pharmacokinetics | ||
3 | Metabolism |
.40
|
|
4 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.31
|
|
5 | Bile secretion |
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,IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
cholic acid | Approved | Pharma | Agonist, Full agonist, Transporter, substrate, inhibitor, inducer | 0 | ||
Daunorubicin | Approved | Pharma | Transporter, substrate | DNA topoisomerase II inhibitor | 383 | |
deoxycholic acid | Approved | Pharma | Antagonist, Agonist, Full agonist, Transporter, inducer | 49 | ||
Dexamethasone | Approved, Investigational, Vet_approved | Pharma | Agonist, Transporter, inducer | Anti-inflammatory glucocorticoid | 2886 | |
Doxorubicin | Approved, Investigational | Pharma | Transporter, substrate | Topo II inhibitor,immunosuppresive antineoplastic antibiotic | 2029 |
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 |
|
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 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ABCB11 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ABCB11 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ABCB11 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Abcb11 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Abcb11 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ABCB11 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ABCB11 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ABCB11 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100489579 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | abcb11b 30 31 |
|
OneToOne | |
Dr.28700 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Mdr50 31 32 |
|
ManyToMany | |
Mdr49 31 |
|
ManyToMany | |||
Mdr65 31 32 |
|
ManyToMany | |||
CG10226 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | pgp-1 32 |
|
|
|
pgp-2 32 |
|
|
|||
pgp-4 31 32 |
|
ManyToMany | |||
pgp-12 32 |
|
|
|||
pgp-5 32 |
|
|
|||
pgp-15 32 |
|
|
|||
pgp-13 32 |
|
|
|||
pgp-10 32 |
|
|
|||
pgp-6 32 |
|
|
|||
pgp-7 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | STE6 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635345 | Uncertain Significance: Progressive familial intrahepatic cholestasis 2 | 168,930,724(-) | C/T | MISSENSE_VARIANT | |
639069 | Pathogenic: not provided | 168,973,731(-) | T/TGAAGGAATCA | FRAMESHIFT_VARIANT | |
639640 | Pathogenic: not provided | 168,930,694(-) | G/A | MISSENSE_VARIANT | |
642518 | Pathogenic: not provided | 168,944,719(-) | AC/A | FRAMESHIFT_VARIANT | |
657852 | Pathogenic: not provided | 168,944,673(-) | CA/C | FRAMESHIFT_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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cholestasis, progressive familial intrahepatic, 2 |
|
|
cholestasis, benign recurrent intrahepatic, 2 |
|
|
intrahepatic cholestasis of pregnancy |
|
|
progressive familial intrahepatic cholestasis |
|
|
cholestasis, intrahepatic, of pregnancy 3 |
|
|