Gene table of ABCB11 : ATP binding cassette subfamily B member 11

Gene-disease associations table

Disease IDDisease nameSource of annotation with ABCB11OMIM linkNumber of associated genesgenes
601847CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2ClinVar, OMIM, HUMSAVAR link to OMIM 1ABCB11
605479CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2ClinVar, OMIM, HUMSAVAR link to OMIM 1ABCB11

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Annotation of the gene ABCB11

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
ABC transportershsa020107.28
Bile secretionhsa049766.56
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Bile acid and bile salt metabolismR-HSA-1940687.85
Defective ABCB11 causes progressive familial intrahepatic cholestasis 2 and benign recurrent intrahepatic cholestasis 2R-HSA-567852012.98
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolR-HSA-1933688.4
Disorders of transmembrane transportersR-HSA-561911510.66
MetabolismR-HSA-14307282.34
Synthesis of bile acids and bile saltsR-HSA-1921058.23
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
ABC transporter disordersR-HSA-561908410.66
Recycling of bile acids and saltsR-HSA-1594189.08
DiseaseR-HSA-16436853.33
Associated GO terms for Molecular function
GO termGO IDGO IC
organic acid transmembrane transporter activityGO:00053424.97
purine ribonucleoside triphosphate bindingGO:00356392.22
monocarboxylic acid transmembrane transporter activityGO:00080286.18
bindingGO:00054880.18
ATPase activityGO:00168873.65
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
ATPase coupled ion transmembrane transporter activityGO:00426255.46
ATPase activity, coupled to transmembrane movement of substancesGO:00426265.06
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substancesGO:00168205.03
sodium ion transmembrane transporter activityGO:00150814.83
ATPase activity, coupledGO:00426233.97
GO:00151269.74
bile acid transmembrane transporter activityGO:00151257.03
organic hydroxy compound transmembrane transporter activityGO:19016186.02
nucleotide bindingGO:00001661.96
primary active transmembrane transporter activityGO:00153994.98
purine nucleoside bindingGO:00018832.22
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
metal ion transmembrane transporter activityGO:00468733.71
active transmembrane transporter activityGO:00228043.85
lipid transporter activityGO:00053195.03
hydrolase activityGO:00167871.9
transmembrane transporter activityGO:00228572.82
GO:00154329.05
transporter activityGO:00052152.57
cation transmembrane transporter activityGO:00083243.32
nucleoside-triphosphatase activityGO:00171113.09
P-P-bond-hydrolysis-driven transmembrane transporter activityGO:00154054.98
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
GO:00085549.74
carboxylic acid transmembrane transporter activityGO:00469434.99
substrate-specific transmembrane transporter activityGO:00228912.9
inorganic cation transmembrane transporter activityGO:00228903.49
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168183.03
substrate-specific transporter activityGO:00228922.72
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
ATPase activity, coupled to movement of substancesGO:00434924.93
hydrolase activity, acting on acid anhydridesGO:00168173.03
cation-transporting ATPase activityGO:00198295.64
ion transmembrane transporter activityGO:00150753.04
pyrophosphatase activityGO:00164623.04
monovalent inorganic cation transmembrane transporter activityGO:00150773.87
adenyl ribonucleotide bindingGO:00325592.41
ATP bindingGO:00055242.43
active ion transmembrane transporter activityGO:00228535.06
purine ribonucleotide bindingGO:00325552.2
ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanismGO:00156626.24
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19