PIP4P2
Chr 8phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2
Also known as: TMEM55A
TMEM55A catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate and regulates phagocytosis by controlling phagosomal phospholipid accumulation. Based on the provided information, no specific diseases have been definitively associated with mutations in this gene, and the inheritance pattern is not established. The gene appears to be tolerant to loss-of-function variants based on constraint metrics.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
85 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 34 | 0 | 34 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 35 | 3 | 0 | 38 |
Likely Benign | 0 | 0 | 1 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 35 | 38 | 0 | 73 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PIP4P2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools