LPCAT2

Chr 16

lysophosphatidylcholine acyltransferase 2

Also known as: AGPAT11, AYTL1, LPLAT9, LysoPAFAT

This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq, Feb 2009]

ResearchGenerating clinical summary…
0
Active trials
14
Pubs (1 yr)
P/LP submissions
P/LP missense
0.99
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.99LOEUF
pLI 0.000
Z-score 1.58
OE 0.68 (0.480.99)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.01Z-score
OE missense 0.66 (0.590.75)
189 obs / 284.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.68 (0.480.99)
00.351.4
Missense OE?0.66 (0.590.75)
00.61.4
Synonymous OE?1.10
01.21.6
LoF obs/exp: 20 / 29.2Missense obs/exp: 189 / 284.6Syn Z: -0.83

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

LPCAT2 · 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.

Search ClinicalTrials.gov →