|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeTo
|
gptkb:AD3
gptkb:STM2
gptkb:PS2
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
gptkb:Parkinson's_disease
gptkb:dementia
frontotemporal dementia
|
|
gptkbp:discoveredBy
|
Levy-Lahad et al.
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodes
|
gptkb:presenilin-2
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:PSEN2
5663
ENSG00000114049
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
|
|
gptkbp:fullName
|
presenilin 2
|
|
gptkbp:function
|
component of gamma-secretase complex
involved in proteolytic processing of amyloid precursor protein
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasParalog
|
gptkb:PSEN1_gene
|
|
gptkbp:HGNC_ID
|
9509
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PSEN2 gene
|
|
gptkbp:length
|
448 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1q42.13
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
familial Alzheimer's disease type 4
|
|
gptkbp:OMIM
|
gptkb:600759
|
|
gptkbp:orthologInChimpanzee
|
gptkb:PSEN2
|
|
gptkbp:orthologInMouse
|
gptkb:Psen2
|
|
gptkbp:pathway
|
gptkb:Notch_signaling_pathway
gptkb:Alzheimer_disease_pathway
Amyloid fiber formation
|
|
gptkbp:proteinFamily
|
presenilin family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:RefSeq
|
NM_000447
|
|
gptkbp:significance
|
pathogenic
likely pathogenic
uncertain significance
|
|
gptkbp:subcellularLocation
|
gptkb:Golgi_apparatus_membrane
gptkb:nuclear_membrane
endoplasmic reticulum membrane
|
|
gptkbp:UniProtID
|
gptkb:P49810
|
|
gptkbp:bfsParent
|
gptkb:presenilin-2
|
|
gptkbp:bfsLayer
|
8
|