Gene: ABCB11

Alternate names for this Gene: ABC16|BRIC2|BSEP|PFIC-2|PFIC2|PGY4|SPGP

Gene Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy.

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.1

Description of this Gene: ATP binding cassette subfamily B member 11

Type of Gene: protein-coding

rs2241339 in ABCB11 gene and Alanine aminotransferase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs10176901 in ABCB11 gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs16856332 in ABCB11 gene and Alkaline phosphatase measurement PMID 22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

rs7576531 in ABCB11 gene and Alzheimer's Disease PMID 29274321 2018 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages.

rs2241339 in ABCB11 gene and Aspartate aminotransferase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs369860506 in ABCB11 gene and Cholestasis, Progressive Familial Intrahepatic, 2 PMID 9806540 1998 A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

PMID 24969679 2014 Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.

PMID 10579978 1999 Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.

PMID 11815775 2002 FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.

PMID 17855769 2007 Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases.

PMID 19101985 2009 Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.

PMID 14672610 2004 These data suggest that PFIC-2 patients with the D482G mutation express a functional, but highly unstable, temperature-sensitive bile salt export pump.

PMID 18395098 2008 Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

PMID 26678486 2015 Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.

PMID 15791618 2005 Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11.

PMID 25847299 2015 Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2.

PMID 20583290 2010 Recurrent low gamma-glutamyl transpeptidase cholestasis following liver transplantation for bile salt export pump (BSEP) disease (posttransplant recurrent BSEP disease).

PMID 24231640 2015 Anti-CD20 Monoclonal Antibody Therapy in Functional Bile Salt Export Pump Deficiency After Liver Transplantation.

PMID 16871584 2006 Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency.

rs121908935 in ABCB11 gene and Cholestasis, benign recurrent intrahepatic 2 PMID 15300568 2004 Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.

PMID 16039748 2005 The intron 4 (+3)A > C, R930X and R432T represent previously undescribed mutations of the ABCB11 gene that confer a PFIC2 and a BRIC2 phenotype, respectively.

PMID 16039748 2005 Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis.

rs16856247 in ABCB11 gene and Fasting blood glucose measurement PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.

PMID 29621232 2018 Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 18521185 2008 Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.

PMID 19060907 2009 Variants in MTNR1B influence fasting glucose levels.

PMID 29743933 2018 Fast and Accurate Genome-Wide Association Test of Multiple Quantitative Traits.

PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs853789 in ABCB11 gene and Fasting blood sugar result PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs853789 in ABCB11 gene and Glucose tolerance test PMID 29743933 2018 Fast and Accurate Genome-Wide Association Test of Multiple Quantitative Traits.

rs10176901 in ABCB11 gene and Low density lipoprotein cholesterol measurement PMID 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs569805 in ABCB11 gene and Metabolic Syndrome X PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

rs11568372 in ABCB11 gene and Progressive intrahepatic cholestasis (disorder) PMID 17855769 2007 Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases.

PMID 18395098 2008 Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

PMID 9806540 1998 A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

rs3770585 in ABCB11 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3770585 in ABCB11 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2241339 in ABCB11 gene and Serum Alanine Aminotransferase Measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs11568373 in ABCB11 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs16856247 in ABCB11 gene and Serum albumin measurement PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.

PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs72623176 in ABCB11 gene and Serum gamma-glutamyl transferase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs10177080 in ABCB11 gene and Serum total cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.