ABCG8

Description		ATP binding cassette subfamily G member 8
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GO Annotations	Cellular Component	Plasma Membrane Membrane Apical Plasma Membrane ATP-binding Cassette (ABC) Transporter Complex Receptor Complex
	Molecular Function	Protein Binding ATP Binding ATP Hydrolysis Activity ATPase-coupled Transmembrane Transporter Activity Metal Ion Binding Protein Heterodimerization Activity Protein Dimerization Activity Cholesterol Transfer Activity ABC-type Transporter Activity
	Biological Process	Lipid Transport Response To Nutrient Response To Xenobiotic Stimulus Negative Regulation Of Intestinal Phytosterol Absorption Response To Muscle Activity Phospholipid Transport Sterol Transport Intestinal Cholesterol Absorption Response To Nutrient Levels Cholesterol Efflux Cholesterol Homeostasis Negative Regulation Of Intestinal Cholesterol Absorption Transmembrane Transport Sterol Homeostasis Triglyceride Homeostasis
Pathways		ABC transporters in lipid homeostasis Defective ABCG8 causes GBD4 and sitosterolemia Defective ABCG5 causes sitosterolemia NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
Drugs
Diseases		Sitosterolemia
GWAS		Age at first sexual intercourse ( 34211149) Alanine aminotransferase levels ( 34315874 33547301) Apolipoprotein B levels ( 32203549) Aspartate aminotransferase levels ( 34315874) C-reactive protein levels or LDL-cholesterol levels (pleiotropy) ( 27286809) Cholesterol, total ( 25961943 28270201 24097068 20686565) Coronary artery disease ( 33020668 29212778 32469254) Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) ( 28714975) Gallstone disease ( 27094239 30504769 30692554 30325047 17632509) LDL cholesterol ( 19060906 20686565 23726366 25961943 30275531) LDL cholesterol levels ( 30698716 32203549) LDL cholesterol levels in current drinkers ( 30698716) LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) ( 30698716) LDL cholesterol levels x long total sleep time interaction (2df test) ( 31719535) LDL cholesterol levels x short total sleep time interaction (2df test) ( 31719535) Lipid metabolism phenotypes ( 19936222) Liver enzyme levels (alanine transaminase) ( 33972514) Low density lipoprotein cholesterol levels ( 33339817 32154731) Mean platelet volume ( 32888494) Mean spheric corpuscular volume ( 32888494) Medication use (antithrombotic agents) ( 31015401) Medication use (HMG CoA reductase inhibitors) ( 31015401) Phytosterol levels ( 20529992) Refractive error ( 32231278) Total cholesterol levels ( 30275531 33339817)
Interacting Genes		9 interacting genes: ABCG5 AGPAT2 AKT2 ANG LMNB1 MAL2 MESD NR4A1 NUPR1
Entrez ID		64241
HPRD ID		05679
Ensembl ID		ENSG00000143921
Uniprot IDs		Q9H221
PDB IDs		5DO7 7JR7 7R87 7R88 7R89 7R8A 7R8B 8CUB
Enriched GO Terms of Interacting Partners?		Regulation Of Type B Pancreatic Cell Proliferation
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