phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
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Diagnostic Grade (Green)
COVID-19 research
BOTH monoallelic and biallelic, autosomal or pseudoautosomalInfantile enterocolitis & monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownNon-CF bronchiectasis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPrimary immunodeficiency or monogenic inflammatory bowel disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomalRespiratory ciliopathies including non-CF bronchiectasis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedGastrointestinal epithelial barrier disorders
BIALLELIC, autosomal or pseudoautosomalactivated PI3K-delta syndrome
immunodeficiency 14b, autosomal recessive
Combined immunodeficiency with facio-oculo-skeletal anomalies
B-cell chronic lymphocytic leukemia
combined immunodeficiency with faciooculoskeletal anomalies
follicular lymphoma
neoplasm
non-Hodgkin lymphoma
neoplasm of mature B-cells
marginal zone lymphoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform
Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:9235916). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396). 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. Mediates immune responses. Plays a role in B-cell development, proliferation, migration, and function. Required for B-cell receptor (BCR) signaling. Mediates B-cell proliferation response to anti-IgM, anti-CD40 and IL4 stimulation. Promotes cytokine production in response to TLR4 and TLR9. Required for antibody class switch mediated by TLR9. Involved in the antigen presentation function of B-cells. Involved in B-cell chemotaxis in response to CXCL13 and sphingosine 1-phosphate (S1P). Required for proliferation, signaling and cytokine production of naive, effector and memory T-cells. Required for T-cell receptor (TCR) signaling. Mediates TCR signaling events at the immune synapse. Activation by TCR leads to antigen-dependent memory T-cell migration and retention to antigenic tissues. Together with PIK3CG participates in T-cell development. Contributes to T-helper cell expansion and differentiation. Required for T-cell migration mediated by homing receptors SELL/CD62L, CCR7 and S1PR1 and antigen dependent recruitment of T-cells. Together with PIK3CG is involved in natural killer (NK) cell development and migration towards the sites of inflammation. Participates in NK cell receptor activation. Plays a role in NK cell maturation and cytokine production. Together with PIK3CG is involved in neutrophil chemotaxis and extravasation. Together with PIK3CG participates in neutrophil respiratory burst. Plays important roles in mast-cell development and mast cell mediated allergic response. Involved in stem cell factor (SCF)-mediated proliferation, adhesion and migration. Required for allergen-IgE-induced degranulation and cytokine release. The lipid kinase activity is required for its biological function. Isoform 2 may be involved in stabilizing total RAS levels, resulting in increased ERK phosphorylation and increased PI3K activity
Curated MONDO disease pages that list PIK3CD among their top associated genes.
PIK3CD · O00329
Mean pLDDT
87.9/ 100
Confident
1,044 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
