Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:AD3L
gptkb:STM2 gptkb:PS2 |
| gptkbp:associatedWith |
gptkb:Alzheimer's_disease
|
| gptkbp:discoveredIn |
1995
|
| gptkbp:encodes |
presenilin-2 protein
|
| gptkbp:Entrez_Gene_ID |
5663
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
brain heart |
| gptkbp:fullName |
gptkb:presenilin-2
|
| gptkbp:function |
component of gamma-secretase complex
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasParalog |
gptkb:PSEN1
|
| gptkbp:HGNC_ID |
9509
|
| https://www.w3.org/2000/01/rdf-schema#label |
PSEN2
|
| gptkbp:involvedIn |
cell signaling
neurodegeneration |
| gptkbp:length |
448 amino acids
|
| gptkbp:locatedOnChromosome |
chromosome 1
1q42.13 |
| gptkbp:mutationAssociatedWith |
gptkb:early-onset_familial_Alzheimer's_disease
nonsense missense frameshift |
| gptkbp:OMIM |
gptkb:600759
|
| gptkbp:orthologInMouse |
gptkb:Psen2
|
| gptkbp:relatedTo |
gptkb:Notch_signaling_pathway
APP processing |
| gptkbp:UniProtID |
gptkb:P49810
|
| gptkbp:bfsParent |
gptkb:Alzheimer's_disease_pathway
|
| gptkbp:bfsLayer |
7
|