PLA2G4F

Chr 15

phospholipase A2 group IVF

Also known as: PLA2G4FZ

NCBI Gene: 255189 ENSG00000168907 UniProt: Q68DD2

Predicted to enable calcium ion binding activity; calcium-dependent phospholipid binding activity; and obsolete calcium-dependent phospholipase A2 activity. Predicted to be involved in glycerophospholipid catabolic process. Predicted to act upstream of or within arachidonate secretion; cellular response to antibiotic; and prostaglandin biosynthetic process. Predicted to be located in mitochondrion and plasma membrane. Predicted to be active in cytosol; ruffle membrane; and vesicle. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.17

LOEUF

GOF

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?

1.17LOEUF

pLI 0.000

Z-score 0.60

OE 0.91 (0.71–1.17)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.53Z-score

OE missense 1.07 (0.99–1.15)

530 obs / 496.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.91 (0.71–1.17)

0≤0.351.4

Missense OE?1.07 (0.99–1.15)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 44 / 48.5Missense obs/exp: 530 / 496.6Syn Z: -0.15

Background carrier burden — how many people carry a rare variant somewhere in PLA2G4F?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 33

1,235 rare PASS variants

Rare truncating (LoF)

1 in 410

231 rare PASS variants

Rare synonymous (reference)

1 in 81

502 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PLA2G4F. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 48	1 in 600
South Asian	~43k	1 in 35	1 in 140
Remaining (unassigned)	~30k	1 in 29	1 in 520
European (Finnish)	~27k	1 in 150	1 in 1,200
Admixed American	~22k	1 in 29	1 in 360
African / African American	~21k	1 in 31	1 in 570
East Asian	~20k	1 in 39	1 in 290
Ashkenazi Jewish	~13k	1 in 100	≈ 1 in 3,300
Middle Eastern	~2,884	1 in 31	≈ 1 in 720

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 20 coding exons well covered in gnomAD exomes and genomes.? see exons ↓