phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
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Diagnostic Grade (Green)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHydrocephalus
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLimb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMalformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMosaic skin disorders - deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+13 more panels — install the extension to see the full list inline on any page.
megalencephaly-capillary malformation-polymicrogyria syndrome
CLOVE syndrome
CLOVES syndrome
PIK3CA-related overgrowth spectrum
breast cancer
Cowden syndrome 5
ovarian cancer
seborrheic keratosis
breast adenocarcinoma
CLAPO syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:23936502, PubMed:28676499). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396, PubMed:28676499). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Participates in cellular signaling in response to various growth factors. Involved in the activation of AKT1 upon stimulation by receptor tyrosine kinases ligands such as EGF, insulin, IGF1, VEGFA and PDGF. Involved in signaling via insulin-receptor substrate (IRS) proteins. Essential in endothelial cell migration during vascular development through VEGFA signaling, possibly by regulating RhoA activity. Required for lymphatic vasculature development, possibly by binding to RAS and by activation by EGF and FGF2, but not by PDGF. Regulates invadopodia formation through the PDPK1-AKT1 pathway. Participates in cardiomyogenesis in embryonic stem cells through a AKT1 pathway. Participates in vasculogenesis in embryonic stem cells through PDK1 and protein kinase C pathway. In addition to its lipid kinase activity, it displays a serine-protein kinase activity that results in the autophosphorylation of the p85alpha regulatory subunit as well as phosphorylation of other proteins such as 4EBP1, H-Ras, the IL-3 beta c receptor and possibly others (PubMed:23936502, PubMed:28676499). Plays a role in the positive regulation of phagocytosis and pinocytosis (By similarity)
Curated MONDO disease pages that list PIK3CA among their top associated genes.
PIK3CA · P42336
Mean pLDDT
92.4/ 100
Very high
1,068 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
