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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CETP
cholesteryl ester transfer protein
Chromosome 16 Β· 16q13
NCBI Gene: 1071Ensembl: ENSG00000087237.13HGNC: HGNC:1869UniProt: A0A0S2Z3F6
706PubMed Papers
21Diseases
6Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Highly Studied
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
lipid bindingcholesterol bindingtriglyceride bindingphosphatidylcholine bindingcholesterol-ester transfer protein deficiencycoronary artery diseasemetabolic syndromehyperlipidemia
✦AI Summary

CETP (cholesteryl ester transfer protein) is a plasma lipid transfer protein that mediates the bidirectional exchange of neutral lipids among lipoprotein particles 1. Its primary function is to facilitate the net transfer of cholesteryl esters from HDL to triglyceride-rich VLDL and LDL, while transporting triglycerides in the opposite direction 2. CETP plays a central role in reverse cholesterol transport, the process by which excess cholesterol is removed from peripheral tissues and returned to the liver for elimination 3. CETP activity is upregulated by increased dietary or endogenous cholesterol 1. Naturally occurring CETP gene variants, including the -629 C→A promoter variant, I405V, and TaqIB polymorphisms, are associated with altered CETP activity and HDL-cholesterol levels 4. CETP deficiency mutations result in markedly elevated HDL-cholesterol and reduced LDL-cholesterol, with heterozygous CETP deficiency being common in Japanese populations 5. Clinically, CETP inhibitors (such as obicetrapib, anacetrapib, and evacetrapib) are therapeutic targets that substantially raise HDL-cholesterol while reducing LDL-cholesterol, potentially reducing atherosclerotic cardiovascular disease risk 6. However, CETP demonstrates sex-specific vascular effects independent of HDL modulation, with impaired endothelial function and increased oxidative stress in males but preserved anticontractile function in females 7.

Sources cited
1
CETP mediates cholesteryl ester transfer from HDL to VLDL and triglyceride transport from VLDL to HDL
PMID: 24293641
2
CETP regulates reverse cholesterol transport for excess cholesterol removal from peripheral tissues to liver
PMID: 17237796
3
CETP is a plasma lipid transfer protein mediating phospholipid and neutral lipid exchange; CETP expression is upregulated by increased dietary cholesterol
PMID: 7574481
4
CETP gene variants (-629 C→A, I405V, TaqIB) are associated with altered CETP activity and HDL-cholesterol levels
PMID: 15243211
5
CETP deficiency mutations result in extremely high HDL-cholesterol; heterozygous deficiency is common in Japanese populations
PMID: 7853713
6
CETP inhibitors (anacetrapib, evacetrapib) substantially increase HDL-cholesterol and decrease LDL-cholesterol
PMID: 25410905
7
CETP exhibits sex-specific vascular effects: impaired endothelial function and oxidative stress in males; preserved anticontractile function in females
PMID: 38984977
Disease Associationsβ“˜21
cholesterol-ester transfer protein deficiencyOpen Targets
0.72Strong
coronary artery diseaseOpen Targets
0.63Moderate
metabolic syndromeOpen Targets
0.57Moderate
hyperlipidemiaOpen Targets
0.55Moderate
macular degenerationOpen Targets
0.54Moderate
age-related macular degenerationOpen Targets
0.53Moderate
wet macular degenerationOpen Targets
0.49Moderate
metabolic diseaseOpen Targets
0.48Moderate
familial lipoprotein lipase deficiencyOpen Targets
0.47Moderate
retinopathyOpen Targets
0.47Moderate
degeneration of macula and posterior poleOpen Targets
0.47Moderate
COVID-19Open Targets
0.46Moderate
Disorder of lipid metabolismOpen Targets
0.46Moderate
HypercholesterolemiaOpen Targets
0.46Moderate
cardiovascular diseaseOpen Targets
0.46Moderate
atherosclerosisOpen Targets
0.43Moderate
heart failureOpen Targets
0.43Moderate
coronary atherosclerosisOpen Targets
0.42Moderate
response to statinOpen Targets
0.41Moderate
familial hyperlipidemiaOpen Targets
0.41Moderate
Hyperalphalipoproteinemia 1UniProt
Pathogenic Variants10
NM_000078.3(CETP):c.1321+1G>APathogenic
Hyperalphalipoproteinemia 1|Hereditary spastic paraplegia 52
β˜…β˜…β˜†β˜†2026
NM_000078.3(CETP):c.160C>T (p.Arg54Ter)Likely pathogenic
Hyperalphalipoproteinemia 1
β˜…β˜…β˜†β˜†2024β†’ Residue 54
NM_000078.3(CETP):c.165del (p.Ser56fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 56
NM_000078.3(CETP):c.981+2T>CPathogenic
Hyperalphalipoproteinemia 1
β˜…β˜†β˜†β˜†2024
NM_000078.3(CETP):c.964C>T (p.Gln322Ter)Likely pathogenic
Hyperalphalipoproteinemia 1
β˜…β˜†β˜†β˜†2023β†’ Residue 322
NM_000078.3(CETP):c.266del (p.Ser89fs)Likely pathogenic
Hyperalphalipoproteinemia 1
β˜…β˜†β˜†β˜†2023β†’ Residue 89
NM_000078.3(CETP):c.976C>T (p.Gln326Ter)Likely pathogenic
Cholesterol-ester transfer protein deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 326
NM_000078.3(CETP):c.268C>T (p.Gln90Ter)Pathogenic
Hyperalphalipoproteinemia 1
β˜…β˜†β˜†β˜†2019β†’ Residue 90
NM_000078.3(CETP):c.598-1G>CLikely pathogenic
CETP-related disorder
β˜†β˜†β˜†β˜†2024
NM_000078.3(CETP):c.1321+2dupPathogenic
Hyperalphalipoproteinemia 1
β˜†β˜†β˜†β˜†1994
View on ClinVar β†—
Drug Targets6
ANACETRAPIBPhase III
Cholesteryl ester transfer protein inhibitor
arteriosclerosis
DALCETRAPIBPhase III
Cholesteryl ester transfer protein inhibitor
acute coronary syndrome
EVACETRAPIBPhase III
Cholesteryl ester transfer protein inhibitor
cardiovascular disease
OBICETRAPIBPhase III
Cholesteryl ester transfer protein inhibitor
atherosclerosis
ROCACETRAPIBPhase I
Cholesteryl ester transfer protein inhibitor
Disorder of lipid metabolism
TORCETRAPIBPhase III
Cholesteryl ester transfer protein inhibitor
coronary artery disease
Related Genes
APOC1Protein interaction99%APOFProtein interaction98%PON1Protein interaction97%LPLProtein interaction94%APOA5Protein interaction94%LPAProtein interaction93%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
53%
Lung
44%
Brain
17%
Heart
11%
Ovary
8%
Gene Interaction Network
Click a node to explore
CETPAPOC1APOFPON1LPLAPOA5LPA
PROTEIN STRUCTURE
Preparing viewer…
PDB2OBD Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.01LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.65–1.01]
RankingsWhere CETP stands among ~20K protein-coding genes
  • #304of 20,598
    Most Researched706 Β· top 5%
  • #2,814of 5,498
    Most Pathogenic Variants10
  • #9,875of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedCETP
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
CETP/LPL/LIPC gene polymorphisms and susceptibility to age-related macular degeneration.
PMID: 26503844
Sci Rep Β· 2015
1.00
2
CETP and atherosclerosis.
PMID: 10978244
Arterioscler Thromb Vasc Biol Β· 2000
1.00
3
Macular Degeneration and CETP Inhibition.
PMID: 35648418
JAMA Cardiol Β· 2022
0.92
4
Macular Degeneration and CETP Inhibition-Reply.
PMID: 35648396
JAMA Cardiol Β· 2022
0.90
5
CETP gene variation: relation to lipid parameters and cardiovascular risk.
PMID: 15243211
Curr Opin Lipidol Β· 2004
0.90