BBS2 and CETP

		BBS2	CETP
Description		Bardet-Biedl syndrome 2	cholesteryl ester transfer protein
Image		No pdb structure
GO Annotations	Cellular Component	Cytoplasm Cytosol Cytoskeleton Plasma Membrane Microvillus Cilium Membrane Motile Cilium Stereocilium Centriolar Satellite BBSome Ciliary Basal Body Cell Projection Neuron Projection Ciliary Membrane	Extracellular Region Extracellular Space Vesicle High-density Lipoprotein Particle Extracellular Exosome
	Molecular Function	Protein Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding	Phospholipid Transporter Activity Lipid Binding Cholesterol Binding Triglyceride Binding Phosphatidylcholine Binding Cholesterol Transfer Activity
	Biological Process	Sperm Axoneme Assembly Visual Perception Intracellular Protein Localization Gene Expression Negative Regulation Of Gene Expression Artery Smooth Muscle Contraction Protein Transport Striatum Development Hippocampus Development Cerebral Cortex Development Cell Projection Organization Adult Behavior Melanosome Transport Leptin-mediated Signaling Pathway Protein Localization To Organelle Negative Regulation Of Appetite By Leptin-mediated Signaling Pathway Negative Regulation Of Multicellular Organism Growth Positive Regulation Of Multicellular Organism Growth Vasodilation Golgi To Plasma Membrane Protein Transport Response To Leptin Fat Cell Differentiation Photoreceptor Cell Maintenance Brain Morphogenesis Cartilage Development Cilium Assembly Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Non-motile Cilium Assembly	Lipid Metabolic Process Triglyceride Metabolic Process Lipid Transport Steroid Metabolic Process Cholesterol Metabolic Process Negative Regulation Of Macrophage Derived Foam Cell Differentiation Regulation Of Cholesterol Efflux Phospholipid Transport Cholesterol Transport Positive Regulation Of Cholesterol Transport Triglyceride Transport Very-low-density Lipoprotein Particle Remodeling Low-density Lipoprotein Particle Remodeling High-density Lipoprotein Particle Remodeling Cholesterol Homeostasis Reverse Cholesterol Transport Phosphatidylcholine Metabolic Process Lipid Homeostasis Phospholipid Homeostasis Triglyceride Homeostasis Positive Regulation Of Phospholipid Transport
Pathways		BBSome-mediated cargo-targeting to cilium	LDL remodeling HDL remodeling NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
Drugs			Torcetrapib
Diseases		Bardet-Biedl syndrome (BBS)
GWAS			Advanced age-related macular degeneration ( 26691988) Age-related macular degeneration ( 21665990 23455636) Apolipoprotein A1 levels ( 17463246 32203549) Apolipoprotein B levels ( 32203549) Appendicular lean mass ( 33097823) Aspartate aminotransferase levels ( 33547301) Biochemical measures ( 19260141) C-reactive protein levels or HDL-cholesterol levels (pleiotropy) ( 27286809) C-reactive protein levels or triglyceride levels (pleiotropy) ( 27286809) Cardiovascular disease risk factors ( 21943158) Cardiovascular risk factors ( 20838585) Cholesterol ( 20066028) Cholesterol efflux capacity ( 30369316) Cholesterol efflux capacity (cAMP stimulated assay) ( 30369316) Cholesterol, total ( 20686565 24097068 24886709 26582766) Cholesteryl ester transfer protein levels ( 29728394) Coronary artery disease ( 29212778) Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) ( 28714975) Diisocyanate-induced asthma ( 25918132) Early age-related macular degeneration ( 32843070) Exudative age-related macular degeneration ( 25629512) HDL cholesterol ( 18193043 18193044 19060906 19060910 19060911 19359809 20031538 20031564 20686565 20864672 21347282 21909109 23505323 23726366 24097068 24507774 24886709 25961943 26160806 26582766 26780889 28270201 29404214) HDL Cholesterol - Triglycerides (HDLC-TG) ( 21386085) HDL cholesterol change in response to niacin in statin-treated individuals ( 30371334) HDL Cholesterol in HIV-infection ( 25884002) HDL cholesterol levels ( 17463246 26690388 26763881 28334899 30698716 31694877 32203549) HDL cholesterol levels in current drinkers ( 30698716) HDL cholesterol levels in HIV infection ( 33109212) HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) ( 30698716) HDL cholesterol levels x long total sleep time interaction (2df test) ( 31719535) HDL cholesterol levels x short total sleep time interaction (2df test) ( 31719535) Hematological and biochemical traits ( 20139978) High density lipoprotein cholesterol levels ( 28548082 29403010 30108155 30263045 30718733 30911093 31211820 31217584 31647587 32902719 33339817 33499410) Hypo-HDL-cholesterolemia ( 31087446) LDL cholesterol ( 20686565 24097068 25961943) LDL cholesterol levels ( 28334899 30698716 32203549) 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) Lipid metabolism phenotypes ( 19936222 22286219) Lipid or lipoprotein levels ( 23696881) Lipid traits ( 24023260 24023261 24386095 30576415) Lipoprotein (a) levels ( 33730874) Lipoprotein-associated phospholipase A2 activity and mass ( 22003152 23118302) Low density lipoprotein cholesterol levels ( 33339817) Low HDL-cholesterol levels ( 31910446) Low high density lipoprotein cholesterol levels ( 26879886) Metabolic syndrome ( 20694148 21386085 22399527 31589552) Metabolic syndrome (bivariate traits) ( 21386085) Metabolically unhealthy in normal weight ( 33500527) Metabolically unhealthy in obesity ( 33500527) Metabolite levels ( 22916037) Response to fenofibrate (HDL cholesterol levels) ( 30263045) Response to statins (HDL cholesterol change) ( 27587472) Serum metabolite levels ( 31636271 33031748) Serum metabolite levels (CMS) ( 31636271) Total cholesterol levels ( 28334899 29403010 30718733 33339817) Triglyceride levels ( 28334899 29403010 32203549 33339817) Triglyceride levels in current drinkers ( 30698716) Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) ( 30698716) Triglyceride levels x long total sleep time interaction (2df test) ( 31719535) Triglyceride levels x short total sleep time interaction (2df test) ( 31719535) Triglycerides ( 20686565 24097068 25961943) Waist circumference and related phenotypes ( 18454146)
Interacting Genes		17 interacting genes: BHMT EEF1A1 EPAS1 EXOC7 FHOD1 FNDC3B HNRNPF HSCB KRT18 LMO4 MDFI NRF1 PAX2 PJA2 PSME3 RBPMS UBC	6 interacting genes: APOA1 ARPC3 EWSR1 LPL PRKACG TP53
Entrez ID		583	1071
HPRD ID		05855	00325
Ensembl ID		ENSG00000125124	ENSG00000087237
Uniprot IDs		A0A804HIE1 A0A804HKG1 Q9BXC9	A0A0S2Z3F6 A0A0S2Z3I8 B4DMZ5 P11597
PDB IDs			2OBD 4EWS 4F2A
Enriched GO Terms of Interacting Partners?		Reverse Cholesterol Transport Very-low-density Lipoprotein Particle Remodeling Centriolar Satellite Cholesterol Transport Triglyceride-rich Lipoprotein Particle Remodeling Regulation Of Cholesterol Transport Regulation Of Primary Metabolic Process Sterol Transport Sterol Homeostasis Cholesterol Homeostasis Microtubule Organizing Center	Lipoprotein Particle Binding High-density Lipoprotein Particle Assembly Chylomicron Very-low-density Lipoprotein Particle High-density Lipoprotein Particle Remodeling Plasma Lipoprotein Particle Assembly Protein-lipid Complex Assembly Plasma Lipoprotein Particle Clearance Plasma Lipoprotein Particle Remodeling Protein-containing Complex Remodeling Acylglycerol Homeostasis Triglyceride Homeostasis Negative Regulation Of Helicase Activity Negative Regulation Of G1 To G0 Transition Growth Cone Leading Edge Sterol Homeostasis Cholesterol Homeostasis Transforming Growth Factor Beta Receptor Signaling Pathway Regulation Of Interleukin-1 Beta Production Site Of Double-strand Break Regulation Of Interleukin-1 Production Apolipoprotein A-I Receptor Binding Peptidyl-methionine Modification Regulation Of Biological Quality High-density Lipoprotein Particle Receptor Binding Protein-containing Complex Organization Animal Organ Development Positive Regulation Of Phospholipid Efflux Apolipoprotein Receptor Binding Negative Regulation Of Appetite By Leptin-mediated Signaling Pathway Chylomicron Remodeling Low-density Lipoprotein Particle Mediated Signaling Oligodendrocyte Apoptotic Process Negative Regulation Of Fermentation Intrinsic Apoptotic Signaling Pathway In Response To Hypoxia Negative Regulation Of Pentose-phosphate Shunt Positive Regulation Of Thymocyte Apoptotic Process Response To Actinomycin D T Cell Proliferation Involved In Immune Response Oxidative Stress-induced Premature Senescence Negative Regulation Of Glucose Catabolic Process To Lactate Via Pyruvate Glucose Catabolic Process To Lactate Via Pyruvate Germ Cell Nucleus Cellular Response To Actinomycin D Lipid Homeostasis Very-low-density Lipoprotein Particle Clearance Histone Deacetylase Regulator Activity Positive Regulation Of RNA Polymerase II Transcription Preinitiation Complex Assembly Regulation Of G1 To G0 Transition Glial Cell Apoptotic Process
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