PLA2G12A

Chr 4

phospholipase A2 group XIIA

Also known as: GXII, PLA2G12, ROSSY

NCBI Gene: 81579ENSG00000123739UniProt: Q9BZM1OMIM: 611652

Secreted phospholipase A2 (sPLA2) enzymes liberate arachidonic acid from phospholipids for production of eicosanoids and exert a variety of physiologic and pathologic effects. Group XII sPLA2s, such as PLA2G12A, have relatively low specific activity and are structurally and functionally distinct from other sPLA2s (Gelb et al., 2000 [PubMed 11031251]).[supplied by OMIM, Mar 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.44
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.44LOEUF
pLI 0.000
Z-score 0.69
OE 0.74 (0.40–1.44)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.20Z-score
OE missense 1.05 (0.90–1.23)
112 obs / 106.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.74 (0.40–1.44)
0≤0.351.4
Missense OE?1.05 (0.90–1.23)
0≤0.61.4
Synonymous OE?0.85
0≤1.21.6
LoF obs/exp: 6 / 8.1Missense obs/exp: 112 / 106.2Syn Z: 0.78

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PLA2G12A · 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

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients