PTGR3

Chr 18

prostaglandin reductase 3

Also known as: PRG-3, PTGR-3, ZADH2

NCBI Gene: 284273ENSG00000180011UniProt: Q8N4Q0

The PTGR3 protein functions as a mitochondrial 15-oxo-prostaglandin 13-reductase that metabolizes prostaglandin derivatives and inhibits adipocyte differentiation by repressing PPARG transcriptional activity. Currently, no established human diseases have been definitively linked to PTGR3 mutations in the medical literature. This gene shows tolerance to loss-of-function variants in population databases.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
1
Pubs (1 yr)
154
P/LP submissions
0%
P/LP missense
1.27
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— PTGR3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
152 unique Pathogenic / Likely Pathogenic· 81 VUS of 245 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.27LOEUF
pLI 0.003
Z-score 1.04
OE 0.61 (0.32–1.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.66Z-score
OE missense 1.13 (1.01–1.26)
233 obs / 206.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.61 (0.32–1.27)
0≤0.351.4
Missense OE1.13 (1.01–1.26)
0≤0.61.4
Synonymous OE1.09
0≤1.21.6
LoF obs/exp: 5 / 8.2Missense obs/exp: 233 / 206.2Syn Z: -0.66
DN
0.76top 25%
GOF
0.6833th %ile
LOF
0.2775th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

245 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic145
Likely Pathogenic7
VUS81
Likely Benign5
145
Pathogenic
7
Likely Pathogenic
81
VUS
5
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
145
0
145
Likely Pathogenic
0
0
7
0
7
VUS
0
75
6
0
81
Likely Benign
0
5
0
0
5
Benign
0
0
0
0
0
Total0801580238

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PTGR3 · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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