APOE (apolipoprotein E)

2003-08-01  

Identity

HGNC
APOE
LOCATION
19q13.32
LOCUSID
348
ALIAS
AD2,APO-E,ApoE4,LDLCQ5,LPG
FUSION GENES
Show Gene Fusions

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
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

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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
373097032024Obstructive sleep apnea and cognitive functioning in the older general population: The moderating effect of age, sex, ApoE4, and obesity.0
375778522024The relationship between APOE genotype, CSF Tau and cognition across the Alzheimer's disease spectrum, moderation and mediation role of insula network connectivity.1
376466242024Alzheimer's disease phenotype based upon the carrier status of the apolipoprotein E ɛ4 allele.1
376532692024Involvement of ApoE4 in dementia with Lewy bodies in the prodromal and demented stages: evaluation of the Strasbourg cohort.0
376796102024Capillary dysfunction in healthy elderly APOE ε4 carriers with raised brain Aβ deposition.0
376979662024The roles of apolipoprotein E ε4 on neuropathology and neuroinflammation in patients with Alzheimer's disease.1
377005472024GSK-3β activation mediates apolipoprotein E4-associated cognitive impairment in type 2 diabetes mellitus: A multicenter, cross-sectional study.2
377101442024Understanding the interplay between APO E polymorphism and cognition in the Italian oldest old: results from the "Mugello study".0
377288502024Neuronal Stem Cells from Late-Onset Alzheimer Patients Show Altered Regulation of Sirtuin 1 Depending on Apolipoprotein E Indicating Disturbed Stem Cell Plasticity.1
377591002024Association of APOE gene with longitudinal changes of CSF amyloid beta and tau levels in Alzheimer's disease: racial differences.2
377926272024Beneficial Effect of Societal Factors on APOE-ε2 and ε4 Carriers' Brain Health: A Systematic Review.0
378013342024The inverse association between the apolipoprotein E ε4 allele and C-reactive protein levels is stronger in persons with obesity and diabetes.0
378053442024The cell biology of APOE in the brain.4
380359982024APOE Genotype Modifies the Association between Midlife Adherence to the Planetary Healthy Diet and Cognitive Function in Later Life among Chinese Adults in Singapore.1
380548952024The current state of apolipoprotein E in dyslipidemia.1

Citation

Dessen P

APOE (apolipoprotein E)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

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