PIK3C3

Chr 18

phosphatidylinositol 3-kinase catalytic subunit type 3

Also known as: VPS34, Vps34, hVps34

NCBI Gene: 5289 ENSG00000078142 UniProt: Q8NEB9 OMIM: 602609

PIK3C3 encodes a catalytic subunit that generates phosphatidylinositol 3-phosphate in different PI3K complexes, mediating autophagosome formation, endosomal trafficking, and cytokinesis. Mutations cause autosomal recessive neurodevelopmental disorders with seizures and intellectual disability, often with early childhood onset. The gene is highly constrained against loss-of-function variants in the population.

OMIM ResearchSummary from RefSeq, UniProt

Enables 1-phosphatidylinositol-3-kinase activity. Involved in several processes, including early endosome to late endosome transport; macroautophagy; and positive regulation of natural killer cell mediated cytotoxicity. Acts upstream of or within autophagy and positive regulation of protein lipidation. Located in autolysosome; late endosome; and midbody. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.67

LOEUF

Multiple*

Mechanism· predicted