|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:PI3K-delta
gptkb:p110δ
gptkb:phosphoinositide-3-kinase_catalytic_subunit_delta
|
|
gptkbp:associatedWith
|
gptkb:immunodeficiency_14
activated PI3K-delta syndrome (APDS)
|
|
gptkbp:discoveredBy
|
Vanhaesebroeck et al.
|
|
gptkbp:discoveredIn
|
1997
|
|
gptkbp:encodes
|
gptkb:phosphatidylinositol-4,5-bisphosphate_3-kinase_catalytic_subunit_delta_isoform
|
|
gptkbp:Entrez_Gene_ID
|
5293
ENSG00000171608
|
|
gptkbp:expressedIn
|
gptkb:leukocytes
gptkb:thymus
lymph nodes
spleen
bone marrow
|
|
gptkbp:function
|
catalytic subunit of class IA PI3K
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
8977
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PIK3CD
|
|
gptkbp:inhibitedBy
|
gptkb:copanlisib
gptkb:duvelisib
gptkb:idelalisib
gptkb:parsaclisib
gptkb:umbralisib
|
|
gptkbp:involvedIn
|
gptkb:PI3K-Akt_signaling_pathway
immune response
|
|
gptkbp:length
|
1044 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:1p36.22
chromosome 1
|
|
gptkbp:molecularWeight
|
119 kDa
|
|
gptkbp:mutationAssociatedWith
|
autoimmune disease
gain-of-function
loss-of-function
lymphoproliferative disorders
|
|
gptkbp:OMIM
|
602839
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Pik3cd
|
|
gptkbp:regulates
|
T cell activation
B cell development
mast cell degranulation
neutrophil migration
|
|
gptkbp:significance
|
immunodeficiency
autoimmunity
lymphoma susceptibility
|
|
gptkbp:target
|
gptkb:duvelisib
gptkb:idelalisib
gptkb:umbralisib
|
|
gptkbp:UniProtID
|
O00329
|
|
gptkbp:bfsParent
|
gptkb:protein
|
|
gptkbp:bfsLayer
|
4
|