PRXL2B

Chr 1

peroxiredoxin like 2B

Also known as: C1orf93, FAM213B, PM/PGFS

NCBI Gene: 127281ENSG00000157870UniProt: Q8TBF2OMIM: 621349

Predicted to enable prostaglandin F synthase activity and thioredoxin peroxidase activity. Predicted to be involved in prostaglandin biosynthetic process. Located in extracellular exosome and mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.52
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.52LOEUF
pLI 0.000
Z-score 0.43
OE 0.85 (0.50–1.52)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.35Z-score
OE missense 0.90 (0.77–1.07)
97 obs / 107.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.85 (0.50–1.52)
0≤0.351.4
Missense OE?0.90 (0.77–1.07)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 8 / 9.4Missense obs/exp: 97 / 107.3Syn Z: 0.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRXL2B · 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.

Search ClinicalTrials.gov →

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