gptkbp:instanceOf
|
gptkb:gene
|
gptkbp:alias
|
gptkb:PI3K-delta
gptkb:p110δ
IMD14
|
gptkbp:associatedWith
|
gptkb:immunodeficiency_14
activated PI3K-delta syndrome (APDS)
|
gptkbp:encodes
|
gptkb:phosphatidylinositol-4,5-bisphosphate_3-kinase_catalytic_subunit_delta_isoform
|
gptkbp:Entrez_Gene_ID
|
5293
|
gptkbp:expressedIn
|
gptkb:leukocytes
|
gptkbp:function
|
catalytic subunit of class IA PI3K
|
gptkbp:HGNC_ID
|
8977
|
https://www.w3.org/2000/01/rdf-schema#label
|
PIK3CD gene
|
gptkbp:involvedIn
|
immune response
phosphoinositide 3-kinase signaling pathway
|
gptkbp:locatedOnChromosome
|
gptkb:1p36.22
chromosome 1
|
gptkbp:mutationAssociatedWith
|
immunodeficiency
|
gptkbp:OMIM
|
602839
|
gptkbp:orthologInMouse
|
gptkb:Pik3cd
|
gptkbp:product
|
gptkb:PI3K_delta
|
gptkbp:UniProtID
|
O00329
|
gptkbp:bfsParent
|
gptkb:PI3K-delta
gptkb:p110δ
gptkb:phosphoinositide-3-kinase_catalytic_subunit_delta
gptkb:phosphoinositide_3-kinase_complex
gptkb:PI3K_delta
gptkb:Phosphatidylinositol_4,5-bisphosphate_3-kinase_catalytic_subunit_delta_isoform
|
gptkbp:bfsLayer
|
6
|