APOE (apolipoprotein E)

2003-08-01  

Identity

HGNC
LOCATION
19q13.32
LOCUSID
ALIAS
AD2,APO-E,ApoE4,LDLCQ5,LPG
FUSION GENES

Other Information

Locus ID:

NCBI: 348
MIM: 107741
HGNC: 613
Ensembl: ENSG00000130203

Variants:

dbSNP: 348
ClinVar: 348
TCGA: ENSG00000130203
COSMIC: APOE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130203ENST00000252486P02649
ENSG00000130203ENST00000252486A0A0S2Z3D5
ENSG00000130203ENST00000425718E7ERP7
ENSG00000130203ENST00000434152H0Y7L5
ENSG00000130203ENST00000446996E9PEV4

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500
4000

Pathways

PathwaySourceExternal ID
Alzheimer's diseaseKEGGko05010
Alzheimer's diseaseKEGGhsa05010
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Vesicle-mediated transportREACTOMER-HSA-5653656
Binding and Uptake of Ligands by Scavenger ReceptorsREACTOMER-HSA-2173782
Scavenging by Class A ReceptorsREACTOMER-HSA-3000480
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
Chylomicron-mediated lipid transportREACTOMER-HSA-174800
HDL-mediated lipid transportREACTOMER-HSA-194223
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factorsREACTOMER-HSA-8864260

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA126CYP2C9GeneDataAnnotationassociated
PA133787052VKORC1GeneDataAnnotationassociated
PA133950441hmg coa reductase inhibitorsChemicalClinicalAnnotationassociatedPD
PA164712505Antivirals for treatment of HIV infections, combinationsChemicalClinicalAnnotationassociatedPD15809899, 17700364
PA164742099MTTPGenePathwayassociated
PA27121CYP4F2GeneDataAnnotationassociated
PA443319Alzheimer DiseaseDiseaseClinicalAnnotationassociatedPD
PA443797Coronary DiseaseDiseaseClinicalAnnotationassociatedPD16103896, 17289397, 19667110, 20031582
PA444417HemorrhageDiseaseClinicalAnnotationassociatedPD29432897
PA444528HyperlipidemiasDiseaseClinicalAnnotationassociatedPD15809899, 16103896, 17289397, 17700364, 19667110, 20031582
PA445019Myocardial InfarctionDiseaseClinicalAnnotationassociatedPD10736278
PA446120HypertriglyceridemiaDiseaseClinicalAnnotationassociatedPD12042669, 15809899, 17700364
PA447230HIV InfectionsDiseaseClinicalAnnotationassociatedPD15809899, 17700364
PA447298venous thromboembolismDiseaseClinicalAnnotationassociatedPD29432897
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD16103896, 17289397, 19667110, 20031582
PA449594fenofibrateChemicalClinicalAnnotationassociatedPD12042669
PA449688fluvastatinChemicalClinicalAnnotationassociatedPD17289397, 30363031
PA451089pravastatinChemicalClinicalAnnotation, LabelAnnotationassociatedPD17289397, 19667110
PA451260ritonavirChemicalClinicalAnnotationassociatedPD15809899, 17700364
PA451363simvastatinChemicalClinicalAnnotationassociatedPD10736278
PA451906warfarinChemicalClinicalAnnotationassociatedPD21923605, 29432897
PA452632acenocoumarolChemicalClinicalAnnotation, DataAnnotationassociatedPD29432897

References

Pubmed IDYearTitleCitations
193573042009Distinct patterns of brain activity in young carriers of the APOE-epsilon4 allele.692
193573042009Distinct patterns of brain activity in young carriers of the APOE-epsilon4 allele.692
181930432008Newly identified loci that influence lipid concentrations and risk of coronary artery disease.690
232963392013Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy.669
171927852007Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.609
196790702009The role of apolipoprotein E in Alzheimer's disease.452
118448482002Plasma homocysteine as a risk factor for dementia and Alzheimer's disease.442
185839792008Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database.395
201868532010APOE predicts amyloid-beta but not tau Alzheimer pathology in cognitively normal aging.359
201868532010APOE predicts amyloid-beta but not tau Alzheimer pathology in cognitively normal aging.359

Citation

Dessen P

APOE (apolipoprotein E)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/677/apoe