Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
Epididymal secretory protein E1
HE1 |
| gptkbp:associatedWith |
Niemann-Pick disease type C2
|
| gptkbp:discoveredIn |
1997
|
| gptkbp:encodes |
NPC2 protein
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000119655
10577 |
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
cholesterol transport
|
| gptkbp:HGNC_ID |
7897
|
| https://www.w3.org/2000/01/rdf-schema#label |
NPC2 gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_14
|
| gptkbp:mutationAssociatedWith |
lysosomal storage disorder
|
| gptkbp:OMIM |
601015
|
| gptkbp:orthologInMouse |
Npc2
|
| gptkbp:product |
NPC2 protein
|
| gptkbp:UniProtID |
P61916
|
| gptkbp:bfsParent |
gptkb:Niemann-Pick_disease_type_C
|
| gptkbp:bfsLayer |
7
|