ABCB11 (ATP binding cassette subfamily B member 11)

2007-02-01  

Identity

HGNC
LOCATION
2q31.1
LOCUSID
ALIAS
ABC16,BRIC2,BSEP,PFIC-2,PFIC2,PGY4,SPGP
FUSION GENES

Other Information

Locus ID:

NCBI: 8647
MIM: 603201
HGNC: 42
Ensembl: ENSG00000073734

Variants:

dbSNP: 8647
ClinVar: 8647
TCGA: ENSG00000073734
COSMIC: ABCB11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000073734ENST00000439188H7C486
ENSG00000073734ENST00000647920A0A3B3ITV9
ENSG00000073734ENST00000648875A0A3B3ISD4
ENSG00000073734ENST00000649448A0A3B3IS78
ENSG00000073734ENST00000650372O95342

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Bile acid and bile salt metabolismREACTOMER-HSA-194068
Synthesis of bile acids and bile saltsREACTOMER-HSA-192105
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolREACTOMER-HSA-193368
Recycling of bile acids and saltsREACTOMER-HSA-159418
Endocrine resistanceKEGGko01522
Endocrine resistanceKEGGhsa01522

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA133950441hmg coa reductase inhibitorsChemicalPathwayassociated
PA134308647rosuvastatinChemicalPathwayassociated
PA152241907lapatinibChemicalMultilinkAnnotationassociated23556451
PA451089pravastatinChemicalPathwayassociated

References

Pubmed IDYearTitleCitations
208586832010Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.170
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
198984822009Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.84
185211852008Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.79
185211852008Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.79
168715842006Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency.78
183950982008Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
153005682004Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.59
172648022007Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.56

Citation

Dessen P

ABCB11 (ATP binding cassette subfamily B member 11)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45851/abcb11