Gene: PIK3CD

Alternate names for this Gene: APDS|IMD14|P110DELTA|PI3K|p110D

Gene Summary: Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.22

Description of this Gene: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

Type of Gene: protein-coding

rs397518423 in PIK3CD gene and ACTIVATED PI3K-DELTA SYNDROME PMID 26437962 2016 Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.

PMID 24136356 2013 Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.

PMID 16984281 2006 Identification of variations in the human phosphoinositide 3-kinase p110delta gene in children with primary B-cell immunodeficiency of unknown aetiology.

PMID 24165795 2014 Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.

PMID 25352054 2015 Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis.

PMID 24610295 2014 Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.

PMID 26732860 2017 The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment.

rs7516214 in PIK3CD gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7516138 in PIK3CD gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7516138 in PIK3CD gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.