Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:AD3L
gptkb:STM2 gptkb:PS2 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Alzheimer's_disease
|
| gptkbp:discoveredIn |
1995
|
| gptkbp:encodes |
presenilin-2 protein
|
| gptkbp:Entrez_Gene_ID |
5663
|
| gptkbp:fullName |
presenilin 2
|
| gptkbp:function |
component of gamma-secretase complex
involved in proteolytic processing of amyloid precursor protein |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
9509
|
| https://www.w3.org/2000/01/rdf-schema#label |
Psen2
|
| gptkbp:locatedOnChromosome |
chromosome 1
|
| gptkbp:location |
1q42.13
|
| gptkbp:mutationAssociatedWith |
can cause familial Alzheimer's disease
|
| gptkbp:OMIM |
gptkb:600759
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Psen2
|
| gptkbp:pathway |
gptkb:Notch_signaling_pathway
gptkb:Alzheimer_disease_pathway |
| gptkbp:UniProtID |
gptkb:P49810
|
| gptkbp:bfsParent |
gptkb:PSEN2
|
| gptkbp:bfsLayer |
8
|