Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1071
Gene name	Cholesteryl ester transfer protein
Gene symbol	CETP
Synonyms (NCBI Gene)	BPIFFHDLCQ10
Chromosome	16
Chromosome location	16q13
Summary	The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcri

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1532624	C>A	Drug-response	Intron variant
rs5742907	G>A,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs779824367	TCAACACCAA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1567476573	->T	Pathogenic	Splice donor variant, genic downstream transcript variant

Show/Hide all (14)

miRTarBase ID	miRNA	Experiments
MIRT887342	hsa-miR-3135b	CLIP-seq
MIRT887343	hsa-miR-3150b-3p	CLIP-seq
MIRT887344	hsa-miR-4733-3p	CLIP-seq
MIRT887345	hsa-miR-4784	CLIP-seq
MIRT887346	hsa-miR-765	CLIP-seq
MIRT2199583	hsa-miR-1237	CLIP-seq
MIRT2199584	hsa-miR-221	CLIP-seq
MIRT2199585	hsa-miR-222	CLIP-seq
MIRT2199586	hsa-miR-3907	CLIP-seq
MIRT2199587	hsa-miR-4297	CLIP-seq
MIRT2199588	hsa-miR-4327	CLIP-seq
MIRT2199589	hsa-miR-548q	CLIP-seq
MIRT2199590	hsa-miR-548v	CLIP-seq
MIRT2199591	hsa-miR-636	CLIP-seq

Show/Hide all (9)

Transcription factor	Regulation	Reference
NR1H3	Unknown	18562803
NR5A2	Activation	11331284
PPARA	Activation	18481130
SP1	Repression	10669650
SP1	Unknown	12730302
SP3	Repression	10669650
SP3	Unknown	12730302
SREBF1	Unknown	10393213
YY1	Unknown	10393213

Show/Hide all (61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005548	Function	Phospholipid transporter activity	IBA
GO:0005548	Function	Phospholipid transporter activity	IDA	2833496
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	3104518, 24293641
GO:0005615	Component	Extracellular space	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006641	Process	Triglyceride metabolic process	IBA
GO:0006641	Process	Triglyceride metabolic process	IDA	2833496
GO:0006869	Process	Lipid transport	IDA	3818596
GO:0006869	Process	Lipid transport	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IBA
GO:0008203	Process	Cholesterol metabolic process	IDA	2833496
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IMP	2586614
GO:0008289	Function	Lipid binding	IDA	3818596
GO:0008289	Function	Lipid binding	IEA
GO:0010745	Process	Negative regulation of macrophage derived foam cell differentiation	IC	16670775
GO:0010874	Process	Regulation of cholesterol efflux	IMP	16670775
GO:0015485	Function	Cholesterol binding	IBA
GO:0015485	Function	Cholesterol binding	IDA	2833496
GO:0015914	Process	Phospholipid transport	IEA
GO:0017129	Function	Triglyceride binding	IBA
GO:0017129	Function	Triglyceride binding	IDA	2833496
GO:0030301	Process	Cholesterol transport	IDA	24293641
GO:0030301	Process	Cholesterol transport	IEA
GO:0031210	Function	Phosphatidylcholine binding	IBA
GO:0031210	Function	Phosphatidylcholine binding	IDA	2833496
GO:0031982	Component	Vesicle	IDA	2833496
GO:0032376	Process	Positive regulation of cholesterol transport	IDA	2833496
GO:0034197	Process	Triglyceride transport	IBA
GO:0034197	Process	Triglyceride transport	IDA	24293641
GO:0034197	Process	Triglyceride transport	IEA
GO:0034364	Component	High-density lipoprotein particle	IBA
GO:0034364	Component	High-density lipoprotein particle	IDA	3104518
GO:0034364	Component	High-density lipoprotein particle	IEA
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IBA
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IDA	2833496, 24293641
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IEA
GO:0034374	Process	Low-density lipoprotein particle remodeling	IBA
GO:0034374	Process	Low-density lipoprotein particle remodeling	IDA	2833496
GO:0034375	Process	High-density lipoprotein particle remodeling	IBA
GO:0034375	Process	High-density lipoprotein particle remodeling	IDA	24293641
GO:0034375	Process	High-density lipoprotein particle remodeling	IEA
GO:0034375	Process	High-density lipoprotein particle remodeling	IMP	2586614
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IMP	2586614
GO:0043691	Process	Reverse cholesterol transport	IC	7583561
GO:0043691	Process	Reverse cholesterol transport	IEA
GO:0046470	Process	Phosphatidylcholine metabolic process	IBA
GO:0046470	Process	Phosphatidylcholine metabolic process	IDA	2833496
GO:0055088	Process	Lipid homeostasis	IDA	3818596
GO:0055091	Process	Phospholipid homeostasis	IBA
GO:0055091	Process	Phospholipid homeostasis	IDA	2833496
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070328	Process	Triglyceride homeostasis	IBA
GO:0070328	Process	Triglyceride homeostasis	IDA	2833496
GO:0120020	Function	Cholesterol transfer activity	IDA	2833496, 3600759, 24293641
GO:0120020	Function	Cholesterol transfer activity	IEA
GO:2001140	Process	Positive regulation of phospholipid transport	IDA	2833496

MIM	HGNC	e!Ensembl
118470	1869	ENSG00000087237

P11597

Protein name

Cholesteryl ester transfer protein (Lipid transfer protein I)

Protein function

Involved in the transfer of neutral lipids, including cholesteryl ester and triglyceride, among lipoprotein particles. Allows the net movement of cholesteryl ester from high density lipoproteins/HDL to triglyceride-rich very low density lipoprot

PDB

2OBD , 4EWS , 4F2A

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01273	LBP_BPI_CETP	36 → 211	LBP / BPI / CETP family, N-terminal domain	Family
PF02886	LBP_BPI_CETP_C	243 → 480	LBP / BPI / CETP family, C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma. {ECO:0000269|PubMed:3281933}.

Sequence

MLAATVLTLALLGNAHACSKGTSHEAGIVCRITKPALLVLNHETAKVIQTAFQRASYPDI
TGEKAMMLLGQVKYGLHNIQISHLSIASSQVELVEAKSIDVSIQNVSVVFKGTLKYGYTT
AWWLGIDQSIDFEIDSAIDLQINTQLTCDSGRVRTDAPDCYLSFHKLLLHLQGEREPGWI
KQLFTNFISFTLKLVLKGQICKEINVISNIMADFVQTRAASILSDGDIGVDISLTGDPVI
TASYLESHHKGHFIYKNVSEDLPLPTFSPTLLGDSRMLYFWFSERVFHSLAKVAFQDGRL
MLSLMGDEFKAVLETWGFNTNQEIFQEVVGGFPSQAQVTVHCLKMPKISCQNKGVVVNSS
VMVKFLFPRPDQQHSVAYTFEEDIVTTVQASYSKKKLFLSLLDFQITPKTVSNLTESSSE
SVQSFLQSMITAVGIPEVMSRLEVVFTALMNSKGVSLFDIINPEIITRDGFLLLQMDFGF
PEHLLVDFLQSLS

Sequence length

493

Interactions

View interactions

	KEGG		Reactome
	Cholesterol metabolism		LDL remodeling HDL remodeling NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux

110

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hyperalphalipoproteinemia 1	Pathogenic; Likely pathogenic	rs2056091646, rs780627434, rs2142001776, rs2543643952, rs575020601, rs5742907, rs1567476573	RCV001780486 RCV001780766 RCV001780767 RCV003486308 RCV003486309 RCV000019076 RCV000019080

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal circulating lipid concentration	Uncertain significance	rs769850349	RCV002283588
CETP-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs377469867, rs772644949, rs34611098, rs5881, rs144375086, rs5884, rs182237338, rs34855278, rs7192120, rs35878799, rs28381708, rs778814831	RCV004758206 RCV003941478 RCV004757994 RCV003940256 RCV003922351 RCV003940255 RCV003940257 RCV003920352 RCV003920353 RCV003916234 RCV003958018 RCV003938468
Coronary artery disorder	Benign	rs708272, rs5882	RCV002243347 RCV002243654
Familial cancer of breast	Uncertain significance	rs775438010	RCV005927270
High density lipoprotein cholesterol level quantitative trait locus 10	Benign; association	rs5882, rs183130	RCV000019077 RCV000019078
See cases	Uncertain significance	rs2141997534	RCV002252451

Show/Hide Text Mining Associations (94)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Kidney Injury	Associate	30425299
Albuminuria	Associate	16623947
Alzheimer Disease	Associate	20068209, 21892657, 22122979, 23181436, 25260850
Alzheimer Disease	Inhibit	27033407
Anemia Sickle Cell	Associate	11553004, 38265339
Atherosclerosis	Associate	10412772, 12055319, 14998629, 18243217, 19056069, 19733717, 21609439, 21899732, 23181436, 24091356, 26516624, 26773179, 28902926, 31028198, 33122777 View all (8 more)
Atherosclerosis	Inhibit	37929782, 38127052
Atrial Fibrillation	Associate	16623947, 32197906
Atrophy	Associate	21892657
Brain Ischemia	Associate	23083790
Breast Neoplasms	Associate	26458823, 30262900
Carcinoma Endometrioid	Stimulate	39193372
Carcinoma Hepatocellular	Associate	38049860
Cardiovascular Diseases	Associate	12798569, 16882279, 17196207, 17563401, 17949364, 18243217, 20458649, 23039379, 24091356, 27439317, 28425253, 29141072, 29973202, 30420679, 30779729, 34859866, 37407953 View all (2 more)
Carotid Artery Diseases	Associate	23039379
Carotid Stenosis	Associate	18243217
Cerebral Hemorrhage	Associate	27717122, 29141072
Cerebral Infarction	Associate	17949364, 18549840, 23083790, 27415775, 29141072, 34919242
Cholelithiasis	Associate	7616125
Cognition Disorders	Associate	22122979, 22464147, 25260850
Cognitive Dysfunction	Associate	20068209, 21892657, 22122979, 27033407
Colorectal Neoplasms	Associate	36047191
Constriction Pathologic	Associate	19056069
Coronary Artery Disease	Associate	12798569, 14998629, 15849450, 16882279, 17512363, 18243217, 19491422, 19733717, 21899732, 22143414, 22556171, 23050023, 23157875, 23758630, 24283500 View all (16 more)
Coronary Artery Disease	Inhibit	19056069
Coronary Artery Disease	Stimulate	26936456
Coronary Disease	Associate	14732872, 14967821, 20855565, 23891427, 25288221, 25547030, 25629512, 29848931, 31860674, 33263263, 37373432, 8675707, 9610775
Coronary Restenosis	Associate	12871320
Death	Associate	23083790, 23891427
Dementia	Associate	20068209, 21892657, 22122979
Diabetes Gestational	Inhibit	30200149
Diabetes Gestational	Associate	39428345
Diabetes Mellitus	Associate	20581105, 22073289, 22143414, 26670163, 26984517, 27322064, 30779729
Diabetes Mellitus Type 2	Associate	22073289, 22850130, 23157875, 26670163, 27322064, 29973202, 37407953, 9469586
Dyslipidemias	Associate	23555584, 26694435, 26936456, 28315561, 29574070, 36419087, 40428368
Endometriosis	Associate	23772784
Epileptic Syndromes	Associate	19558660
Essential Hypertension	Associate	28425253, 30544452
Fatty Liver	Associate	34866179
Gallbladder Diseases	Associate	7616125
Gallbladder Neoplasms	Stimulate	20082485
Gallbladder Neoplasms	Associate	20082485
Gallstones	Associate	20082485, 7616125
Gitelman Syndrome	Associate	21970949
Glycogen Storage Disease Type II	Associate	25205864
Glycogen Storage Disease XIV	Associate	31800099
Granulomatosis with Polyangiitis	Associate	35757752
Hypercholesterolemia	Associate	9508004
Hyperlipidemia Familial Combined	Associate	9683614
Hyperlipidemias	Associate	15256764, 21609439
Hyperlipoproteinemia Type II	Associate	24504152, 28851085
Hypertension	Associate	20026784, 20511482
Hypertriglyceridemia	Associate	9610775
Hypertriglyceridemic Waist	Associate	9610775
Hypoglycemia	Associate	19558660
Inflammation	Associate	20489166, 37833739, 40725453
Insulin Resistance	Associate	18239576, 39428345
Kidney Diseases	Associate	16623947
Lipid Metabolism Disorders	Associate	31739638, 34919242
Macular Degeneration	Associate	21906714, 25629512, 26854823, 28456421, 32553749, 32666702, 37929782, 40725453
Metabolic Diseases	Associate	27488210, 32902719
Metabolic Syndrome	Associate	17196207, 18239576, 21767357, 26370976, 27827461, 28629169, 31366177, 31910446, 34859866, 38201907
Microvascular Angina	Associate	38049860
Myocardial Infarction	Associate	17970962, 18549840, 18637884, 20031564, 21252145, 23083790, 23891427, 29141072, 31739638, 37446094, 7657837
Myocardial Ischemia	Associate	23083790, 29396305
Myotonic Dystrophy	Associate	30544452
Neoplasms	Associate	36047191
Neoplasms Adipose Tissue	Associate	17196207, 25137265, 25541553, 36652934
Neurodegenerative Diseases	Associate	23181436, 26253899
Non alcoholic Fatty Liver Disease	Associate	31503515
Obesity	Associate	12055319, 19444232, 25137265, 25651499, 27322064, 32398726, 33500527, 34859866, 36126070
Obesity Abdominal	Associate	21767357, 35807893, 36652934
Overweight	Associate	12055319, 25134189, 25137265, 32398726
Pituitary Neoplasms	Associate	31012439
Plaque Amyloid	Associate	22122979
Polypoidal Choroidal Vasculopathy	Stimulate	26624898
Psychological Trauma	Associate	38031345
Renal Insufficiency Chronic	Associate	25311932
Retinopathy of Prematurity	Associate	18787502
Rhinitis Allergic	Associate	31185305
Sarcopenia	Associate	36192674
Sepsis	Associate	30425299
Severe Acute Respiratory Syndrome	Associate	35757752
Sleep Apnea Obstructive	Associate	28676625
Smoke Inhalation Injury	Stimulate	17970962
Stroke	Associate	11553004, 18622260, 25547030, 32087417
Tn Syndrome	Associate	35628426
Vascular Diseases	Associate	10412772, 14531818, 23083790, 24830642, 26876146, 29141072, 29525816
Venous Thromboembolism	Inhibit	19263529
Venous Thromboembolism	Associate	19263529
Venous Thrombosis	Associate	31148376
Weight Gain	Associate	29699816
Weight Loss	Associate	22648723, 25137265, 25548261, 38062157
X Linked Combined Immunodeficiency Diseases	Associate	19491422

CETP (cholesteryl ester transfer protein)