|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
PDCD10
|
|
gptkbp:associatedWith
|
Cerebral Cavernous Malformations
|
|
gptkbp:discoveredIn
|
2005
|
|
gptkbp:encodes
|
PDCD10 protein
|
|
gptkbp:Entrez_Gene_ID
|
11235
|
|
gptkbp:expressedIn
|
endothelial cells
|
|
gptkbp:fullName
|
Programmed Cell Death 10
|
|
gptkbp:function
|
angiogenesis
cell signaling
regulation of apoptosis
|
|
gptkbp:geneType
|
protein-coding
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CCM3 gene
|
|
gptkbp:interactsWith
|
STK24
STK25
CCM1 protein
CCM2 protein
STRN3
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_3
3q26.1
|
|
gptkbp:mutationAssociatedWith
|
missense mutation
loss-of-function
vascular malformations
nonsense mutation
frameshift mutation
|
|
gptkbp:OMIM
|
609118
|
|
gptkbp:orthologInMouse
|
Pdcd10
|
|
gptkbp:orthologInZebrafish
|
pdcd10a
pdcd10b
|
|
gptkbp:pathway
|
gptkb:MAPK_signaling_pathway
apoptosis pathway
angiogenesis pathway
|
|
gptkbp:proteinFamily
|
CCM gene family
|
|
gptkbp:UniProtID
|
Q9BUL8
|
|
gptkbp:bfsParent
|
gptkb:Cerebral_Cavernous_Malformation_Protein
|
|
gptkbp:bfsLayer
|
7
|