2AR5, 2IWL, 2REA, 2RED528618704ENSG00000011405ENSMUSG00000030660O00443Q61194NM_002645NM_001321378NM_001321380NM_001386870NM_011083NP_001308307NP_001308309NP_002636NP_035213Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing alpha polypeptide is an enzyme that in humans is encoded by the PIK3C2A gene.

The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmannin.

This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling.

[6] Three families have been reported with homozygous loss of function mutations in this gene.

[7] The clinical features of this syndrome include short stature, coarse facial features, cataracts with secondary glaucoma, multiple skeletal abnormalities and neurological manifestations.