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gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:PI3-kinase_regulatory_subunit_beta
gptkb:PI3K_regulatory_subunit_beta
gptkb:p85-beta
gptkb:phosphoinositide-3-kinase_regulatory_subunit_2
|
|
gptkbp:associatedWith
|
gptkb:megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome
epilepsy
intellectual disability
overgrowth syndromes
|
|
gptkbp:discoveredBy
|
gptkb:Yonezawa_et_al.
|
|
gptkbp:encodes
|
gptkb:phosphatidylinositol_3-kinase_regulatory_subunit_beta
|
|
gptkbp:Entrez_Gene_ID
|
ENSG00000105647
5296
|
|
gptkbp:expressedIn
|
various human tissues
|
|
gptkbp:firstDescribed
|
1992
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
8980
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PIK3R2
|
|
gptkbp:interactsWith
|
gptkb:EGFR
gptkb:PDGFR
gptkb:SHC1
gptkb:FGFR1
gptkb:GRB2
gptkb:PIK3CA
gptkb:PIK3CB
gptkb:PIK3CD
gptkb:IRS1
|
|
gptkbp:involvedIn
|
gptkb:PI3K-Akt_signaling_pathway
cell survival
cell growth regulation
insulin signaling
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_19
|
|
gptkbp:mutationAssociatedWith
|
c.1117G>A (p.Gly373Arg)
c.1117G>C (p.Gly373Arg)
|
|
gptkbp:OMIM
|
603157
|
|
gptkbp:orthologInMouse
|
gptkb:Pik3r2
|
|
gptkbp:product
|
gptkb:p85-beta_regulatory_subunit
|
|
gptkbp:regulates
|
phosphatidylinositol 3-kinase activity
|
|
gptkbp:UniProtID
|
O00459
|
|
gptkbp:bfsParent
|
gptkb:Class_I_PI3K
|
|
gptkbp:bfsLayer
|
5
|