PLA2G4B

Chr 15

phospholipase A2 group IVB

Also known as: HsT16992, cPLA2-beta

This gene encodes a member of the cytosolic phospholipase A2 protein family. Phospholipase A2 enzymes hydrolyze the sn-2 bond of phospholipids, releasing lysophospholipids and fatty acids. This enzyme may be associated with mitochondria and early endosomes. Most tissues also express read-through transcripts from the upstream gene into this gene, some of which may encode fusion proteins combining the N-terminus of the upstream gene including its JmjC domain with the almost complete coding region of this gene, including the C2 and cytoplasmic phospholipase A2 domains. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.32
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.32LOEUF
pLI 0.000
Z-score -0.45
OE 1.07 (0.86–1.32)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.99Z-score
OE missense 1.23 (1.16–1.30)
744 obs / 606.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.07 (0.86–1.32)
0≤0.351.4
Missense OE?1.23 (1.16–1.30)
0≤0.61.4
Synonymous OE?1.22
0≤1.21.6
LoF obs/exp: 59 / 55.4Missense obs/exp: 744 / 606.2Syn Z: -2.79

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PLA2G4B · 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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