PIP4K2C

Chr 12

phosphatidylinositol-5-phosphate 4-kinase type 2 gamma

Also known as: PIP5K2C

NCBI Gene: 79837ENSG00000166908UniProt: Q8TBX8

Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and identical protein binding activity. Involved in 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process; negative regulation of insulin receptor signaling pathway; and positive regulation of autophagosome assembly. Located in several cellular components, including autophagosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.72
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.72LOEUF
pLI 0.002
Z-score 2.49
OE 0.40 (0.23–0.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.47Z-score
OE missense 0.74 (0.65–0.83)
185 obs / 250.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.40 (0.23–0.72)
0≤0.351.4
Missense OE?0.74 (0.65–0.83)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 8 / 20.0Missense obs/exp: 185 / 250.6Syn Z: 0.36

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PIP4K2C · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients