Entity Details

Primary name ABCB11
Entity type gene
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Details

PrimaryID8647
RefseqGeneNG_007374
SymbolABCB11
NameATP binding cassette subfamily B member 11
Chromosome2
Location2q31.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-01-23
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsABCBB_HUMAN

GO terms

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GOName
GO:0005524 ATP binding
GO:0005768 endosome
GO:0005886 plasma membrane
GO:0006631 fatty acid metabolic process
GO:0006699 bile acid biosynthetic process
GO:0006855 drug transmembrane transport
GO:0008206 bile acid metabolic process
GO:0008559 ABC-type xenobiotic transporter activity
GO:0009986 cell surface
GO:0015125 bile acid transmembrane transporter activity
GO:0015126 canalicular bile acid transmembrane transporter activity
GO:0015432 ABC-type bile acid transporter activity
GO:0015721 bile acid and bile salt transport
GO:0015722 canalicular bile acid transport
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0016567 protein ubiquitination
GO:0017144 drug metabolic process
GO:0031998 regulation of fatty acid beta-oxidation
GO:0042626 ATPase-coupled transmembrane transporter activity
GO:0042632 cholesterol homeostasis
GO:0046581 intercellular canaliculus
GO:0046618 drug export
GO:0046691 intracellular canaliculus
GO:0055037 recycling endosome
GO:0055038 recycling endosome membrane
GO:0055085 transmembrane transport
GO:0055088 lipid homeostasis
GO:0055091 phospholipid homeostasis
GO:0070062 extracellular exosome
GO:0120189 positive regulation of bile acid secretion
GO:1904251 regulation of bile acid metabolic process

Diseases

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Disease IDSourceNameDescription
605479 OMIMCholestasis, benign recurrent intrahepatic, 2 (BRIC2)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. The disease is caused by variants affecting the gene represented in this entry.
601847 OMIMCholestasis, progressive familial intrahepatic, 2 (PFIC2)A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. The disease is caused by variants affecting the gene represented in this entry.