Identity
HGNC
LOCATION
7q21.12
LOCUSID
ALIAS
ABC21,GBD1,ICP3,MDR2,MDR2/3,MDR3,PFIC-3,PGY3
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: 5244
MIM: 171060
HGNC: 45
Ensembl: ENSG00000005471
Variants:
dbSNP: 5244
ClinVar: 5244
TCGA: ENSG00000005471
COSMIC: ABCB4
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10804 | imatinib | Chemical | ClinicalAnnotation | associated | PD | 30237583 | |
| PA130620651 | anthracyclines and related substances | Chemical | ClinicalAnnotation | associated | PD | 21900104, 23441093 | |
| PA151958383 | Gastrointestinal Stromal Tumors | Disease | ClinicalAnnotation | associated | PD | 30237583 | |
| PA445062 | Neoplasms | Disease | ClinicalAnnotation | associated | PD | 21900104, 23441093 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37787087 | 2024 | A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review. | 1 |
| 38374565 | 2024 | Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease. | 0 |
| 38610052 | 2024 | Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults. | 0 |
| 37787087 | 2024 | A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review. | 1 |
| 38374565 | 2024 | Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease. | 0 |
| 38610052 | 2024 | Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults. | 0 |
| 37212775 | 2023 | MDR3 rs2109505 and rs1202283 polymorphisms are associated with susceptibility to intrahepatic cholestasis of pregnancy: A meta-analysis. | 0 |
| 37488782 | 2023 | Analysis of various ATP-binding cassette transporters revealed quantification of ABCB4 as a potential diagnostic tool in primary sclerosing cholangitis (PSC). | 0 |
| 37212775 | 2023 | MDR3 rs2109505 and rs1202283 polymorphisms are associated with susceptibility to intrahepatic cholestasis of pregnancy: A meta-analysis. | 0 |
| 37488782 | 2023 | Analysis of various ATP-binding cassette transporters revealed quantification of ABCB4 as a potential diagnostic tool in primary sclerosing cholangitis (PSC). | 0 |
| 34376370 | 2022 | The wide phenotypic and genetic spectrum of ABCB4 gene deficiency: A case series. | 2 |
| 34942279 | 2022 | Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort. | 2 |
| 35150476 | 2022 | Mdr3 gene mutation in preterm infants with parenteral nutrition-associated cholestasis. | 1 |
| 35203270 | 2022 | MRCK-Alpha and Its Effector Myosin II Regulatory Light Chain Bind ABCB4 and Regulate Its Membrane Expression. | 1 |
| 35288833 | 2022 | ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease. | 1 |
Citation
Dessen P
ABCB4 (ATP binding cassette subfamily B member 4)
Atlas Genet Cytogenet Oncol Haematol. 2010-01-01
Online version: http://atlasgeneticsoncology.org/gene/51280/abcb4
