CETP (cholesteryl ester transfer protein)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1071
Gene name Gene Name - the full gene name approved by the HGNC.
Cholesteryl ester transfer protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CETP
Synonyms (NCBI Gene) Gene synonyms aliases
BPIFF, HDLCQ10
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q13
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
miRTarBase ID miRNA Experiments Reference
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
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
Transcription factor Regulation Reference
NR1H3 Unknown 18562803
NR5A2 Activation 11331284
PPARA Activation 18481130
SP1 Repression 10669650
SP1 Unknown 12730302
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
118470 1869 ENSG00000087237
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Sequence length 493
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cholesterol metabolism   LDL remodeling
HDL remodeling
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hyperalphalipoproteinemia hyperalphalipoproteinemia 1 rs5742907, rs1567476573 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disorder, Coronary artery disease N/A N/A ClinVar, GWAS
Exudative Macular Degeneration Exudative age-related macular degeneration N/A N/A GWAS
Macular Degeneration Macular degeneration N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome, Metabolic syndrome (bivariate traits) N/A N/A GWAS
Show/Hide Text Mining Associations (94)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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