Identity
HGNC
LOCATION
2q31.1
LOCUSID
ALIAS
ABC16,BRIC2,BSEP,PFIC-2,PFIC2,PGY4,SPGP
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8647
MIM: 603201
HGNC: 42
Ensembl: ENSG00000073734
Variants:
dbSNP: 8647
ClinVar: 8647
TCGA: ENSG00000073734
COSMIC: ABCB11
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA133950441 | hmg coa reductase inhibitors | Chemical | Pathway | associated | |||
| PA134308647 | rosuvastatin | Chemical | Pathway | associated | |||
| PA152241907 | lapatinib | Chemical | MultilinkAnnotation | associated | 23556451 | ||
| PA451089 | pravastatin | Chemical | Pathway | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38108658 | 2024 | Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment. | 1 |
| 38164042 | 2024 | Cav-1 regulates the bile salt export pump on the canalicular membrane of hepatocytes by PKCα-associated signalling under cholesterol stimulation. | 1 |
| 38108658 | 2024 | Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment. | 1 |
| 38164042 | 2024 | Cav-1 regulates the bile salt export pump on the canalicular membrane of hepatocytes by PKCα-associated signalling under cholesterol stimulation. | 1 |
| 36995996 | 2023 | Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study. | 1 |
| 37949847 | 2023 | Structural basis of bile salt extrusion and small-molecule inhibition in human BSEP. | 0 |
| 36995996 | 2023 | Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study. | 1 |
| 37949847 | 2023 | Structural basis of bile salt extrusion and small-molecule inhibition in human BSEP. | 0 |
| 34348275 | 2022 | Common ABCB4 and ABCB11 Genotypes Are Associated with Idiopathic Chronic Cholestasis in Adults. | 3 |
| 34942279 | 2022 | Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort. | 2 |
| 35153175 | 2022 | A study of exons 14, 15, and 24 of the ABCB11 gene in Egyptian children with normal GGT cholestasis. | 0 |
| 35894240 | 2022 | Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1. | 7 |
| 34348275 | 2022 | Common ABCB4 and ABCB11 Genotypes Are Associated with Idiopathic Chronic Cholestasis in Adults. | 3 |
| 34942279 | 2022 | Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort. | 2 |
| 35153175 | 2022 | A study of exons 14, 15, and 24 of the ABCB11 gene in Egyptian children with normal GGT cholestasis. | 0 |
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
