CETP (cholesteryl ester transfer protein)

2018-02-01 Affiliation

Identity

HGNC

CETP

LOCATION

16q13

LOCUSID

1071

ALIAS

BPIFF,HDLCQ10

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1071
MIM: 118470
HGNC: 1869
Ensembl: ENSG00000087237

Variants:

dbSNP: 1071
ClinVar: 1071
TCGA: ENSG00000087237
COSMIC: CETP

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000087237	ENST00000200676	P11597
ENSG00000087237	ENST00000200676	A0A0S2Z3F6
ENSG00000087237	ENST00000379780	P11597
ENSG00000087237	ENST00000379780	A0A0S2Z3I8
ENSG00000087237	ENST00000566128	H3BRJ9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Lipid digestion, mobilization, and transport	REACTOME	R-HSA-73923
Lipoprotein metabolism	REACTOME	R-HSA-174824
HDL-mediated lipid transport	REACTOME	R-HSA-194223
LDL-mediated lipid transport	REACTOME	R-HSA-171052

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA133950441	hmg coa reductase inhibitors	Chemical	ClinicalAnnotation	associated	PD	14660992, 20195290
PA443796	Coronary Artery Disease	Disease	ClinicalAnnotation	associated	PD	14660992, 15044381, 15856070, 18957472, 9420339
PA444516	Hypercholesterolemia	Disease	ClinicalAnnotation	associated	PD	15856070, 16002074, 17931083
PA444517	Hyperlipoproteinemia Type II	Disease	ClinicalAnnotation	associated	PD	15856070, 17931083
PA444528	Hyperlipidemias	Disease	ClinicalAnnotation	associated	PD	20195290
PA448500	atorvastatin	Chemical	ClinicalAnnotation	associated	PD	12663600, 15856070, 16103896
PA449688	fluvastatin	Chemical	ClinicalAnnotation	associated	PD	16002074
PA450272	lovastatin	Chemical	ClinicalAnnotation	associated	PD	16103896
PA451089	pravastatin	Chemical	ClinicalAnnotation	associated	PD	14660992, 15044381, 15856070, 18957472, 9420339
PA451363	simvastatin	Chemical	ClinicalAnnotation	associated	PD	15856070, 17931083

References

Pubmed ID	Year	Title	Citations
18193043	2008	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	690
18354102	2008	Polymorphisms associated with cholesterol and risk of cardiovascular events.	250
20385819	2010	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	246
20714348	2010	Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.	246
20385826	2010	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	199
14559957	2003	Unique lipoprotein phenotype and genotype associated with exceptional longevity.	180
14559957	2003	Unique lipoprotein phenotype and genotype associated with exceptional longevity.	180
18560005	2008	Association of cholesteryl ester transfer protein genotypes with CETP mass and activity, lipid levels, and coronary risk.	141
18560005	2008	Association of cholesteryl ester transfer protein genotypes with CETP mass and activity, lipid levels, and coronary risk.	141
12588754	2003	Cholesteryl ester transfer protein: a novel target for raising HDL and inhibiting atherosclerosis.	139

Citation

Dessen P

CETP (cholesteryl ester transfer protein)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57338/cetp