PIP4P2

Chr 8

phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2

Also known as: TMEM55A

TMEM55A catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
0.89
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.89LOEUF
pLI 0.000
Z-score 1.88
OE 0.50 (0.290.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.21Z-score
OE missense 0.72 (0.610.85)
106 obs / 147.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.290.89)
00.351.4
Missense OE?0.72 (0.610.85)
00.61.4
Synonymous OE?0.82
01.21.6
LoF obs/exp: 8 / 16.1Missense obs/exp: 106 / 147.3Syn Z: 1.03

ClinVar Variant Classifications

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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