|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
gptkb:cardiovascular_disease
|
|
gptkbp:chromosomeArm
|
q
|
|
gptkbp:discoveredBy
|
gptkb:Allen_Roses
|
|
gptkbp:encodes
|
Apolipoprotein E protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000130203
348
|
|
gptkbp:expressedIn
|
brain
liver
macrophages
|
|
gptkbp:fullName
|
gptkb:Apolipoprotein_E
|
|
gptkbp:function
|
cholesterol metabolism
lipid transport
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasAllele
|
gptkb:APOE_ε2
gptkb:APOE_ε3
gptkb:APOE_ε4
|
|
gptkbp:hasPolymorphism
|
gptkb:rs429358
gptkb:rs7412
|
|
gptkbp:HGNC_ID
|
HGNC:613
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
APOE (human gene)
|
|
gptkbp:length
|
359 amino acids
|
|
gptkbp:locatedOnChromosome
|
19
19q13.32
plus
|
|
gptkbp:locusType
|
19q13.32
|
|
gptkbp:OMIM
|
107741
|
|
gptkbp:orthologInMouse
|
gptkb:Apoe
|
|
gptkbp:proteinFamily
|
gptkb:apolipoproteins
|
|
gptkbp:RefSeq
|
NM_000041
|
|
gptkbp:relatedTo
|
gptkb:Parkinson's_disease
gptkb:dementia
gptkb:trauma
gptkb:familial_dysbetalipoproteinemia
gptkb:hyperlipoproteinemia_type_III
gptkb:type_2_diabetes
cognitive decline
neurodegenerative disease
stroke
multiple sclerosis
atherosclerosis
cerebral amyloid angiopathy
coronary artery disease
age-related macular degeneration
lipoprotein metabolism
lipid disorders
|
|
gptkbp:symbol
|
gptkb:APOE
|
|
gptkbp:UniProtID
|
P02649
|
|
gptkbp:bfsParent
|
gptkb:Apoe_(mouse_gene)
|
|
gptkbp:bfsLayer
|
8
|