PIP4K2A

Chr 10

phosphatidylinositol-5-phosphate 4-kinase type 2 alpha

Also known as: PI5P4KA, PIP5K2A, PIP5KII-alpha, PIP5KIIA, PIPK

NCBI Gene: 5305 ENSG00000150867 UniProt: P48426 OMIM: 603140

This enzyme catalyzes the phosphorylation of phosphatidylinositol 5-phosphate to form phosphatidylinositol 4,5-bisphosphate, regulating phosphoinositide signaling pathways involved in autophagy, lysosome-peroxisome membrane contacts, and cellular lipid metabolism. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay, inherited in an autosomal recessive pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.56), suggesting some tolerance to complete gene loss.

OMIM ResearchSummary from RefSeq, UniProt

Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.56

LOEUF

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Mechanism