Gene: ABCG8

Alternate names for this Gene: GBD4|STSL|STSL1

Gene Summary: The 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 White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: ATP binding cassette subfamily G member 8

Type of Gene: protein-coding

rs4245791 in ABCG8 gene and Biliary calculi PMID 27094239 2016 Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies.

rs4245791 in ABCG8 gene and Cholecystolithiasis PMID 17632509 2007 A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

rs4245791 in ABCG8 gene and Cholelithiasis PMID 17632509 2007 A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

rs6544713 in ABCG8 gene and Coronary Artery Disease PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs6544713 in ABCG8 gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs4245791 in ABCG8 gene and Lipids measurement PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

rs4148217 in ABCG8 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

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

PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

PMID 31393916 2019 Genetically regulated gene expression underlies lipid traits in Hispanic cohorts.

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

PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

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

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

rs4148217 in ABCG8 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.

rs4148217 in ABCG8 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

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

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

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

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

rs137852988 in ABCG8 gene and Sitosterolemia PMID 15054092 2004 Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.

PMID 11452359 2001 Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

PMID 11099417 2000 Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.

PMID 28739549 2017 Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.