Gene: LOC102725159

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs4299376 in LOC102725159;ABCG8 gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs4299376 in LOC102725159;ABCG8 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4299376 in LOC102725159;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.

rs4299376 in LOC102725159;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.

rs4299376 in LOC102725159;ABCG8 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

PMID 28714975 2017 Association analyses based on false discovery rate implicate new loci for coronary artery disease.

rs4299376 in LOC102725159;ABCG8 gene and Lipids measurement PMID 19936222 2009 Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.

rs4299376 in LOC102725159;ABCG8 gene and Low density lipoprotein cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 23100282 2013 Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

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 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

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

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

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

rs4299376 in LOC102725159;ABCG8 gene and Serum LDL cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 23100282 2013 Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

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

rs4299376 in LOC102725159;ABCG8 gene and Serum total cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

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

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

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

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

rs4299376 in LOC102725159;ABCG8 gene and Squamous cell carcinoma PMID 23103227 2012 Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.