PLA2G12B

Chr 10

phospholipase A2 group XIIB

Also known as: FKSG71, GXIIB, GXIIIsPLA2, PLA2G13, sPLA2-GXIIB

The protein encoded by this gene belongs to the phospholipase A2 (PLA2) group of enzymes, which function in glycolipid hydrolysis with the release of free fatty acids and lysophospholipids. This family member has altered phospholipid-binding properties and is catalytically inactive. The protein is secreted, and together with microsomal triglyceride transfer protein, it functions to regulate HNF4alpha-induced hepatitis C virus infectivity. The expression of this gene is down-regulated in various tumors, suggesting that it may function as a negative regulator of tumor progression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]

OMIMResearchGenerating clinical summary…
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.19
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.19LOEUF
pLI 0.001
Z-score 1.16
OE 0.60 (0.331.19)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.65Z-score
OE missense 0.83 (0.700.98)
95 obs / 114.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.60 (0.331.19)
00.351.4
Missense OE?0.83 (0.700.98)
00.61.4
Synonymous OE?0.75
01.21.6
LoF obs/exp: 6 / 9.9Missense obs/exp: 95 / 114.7Syn Z: 1.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PLA2G12B · 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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