Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
gptkb:phosphatidylinositol-binding_clathrin_assembly_protein
gptkb:CALM |
gptkbp:associatedWith |
gptkb:Alzheimer's_disease
leukemia |
gptkbp:encodes |
PICALM protein
|
gptkbp:Entrez_Gene_ID |
8301
|
gptkbp:expressedIn |
brain
hematopoietic cells |
gptkbp:fullName |
phosphatidylinositol binding clathrin assembly protein gene
|
gptkbp:function |
involved in clathrin-mediated endocytosis
|
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
HGNC:8926
|
https://www.w3.org/2000/01/rdf-schema#label |
PICALM gene
|
gptkbp:locatedOnChromosome |
gptkb:11q14
chromosome 11 |
gptkbp:mutationAssociatedWith |
can result in fusion with MLLT10 in leukemia
|
gptkbp:OMIM |
603025
|
gptkbp:orthologInMouse |
Picalm
|
gptkbp:product |
PICALM protein
|
gptkbp:UniProtID |
gptkb:Q13492
|
gptkbp:bfsParent |
gptkb:Alzheimer's_disease_with_late_onset
|
gptkbp:bfsLayer |
8
|