PAQR3

Chr 4

progestin and adipoQ receptor family member 3

Also known as: RKTG

NCBI Gene: 152559ENSG00000163291UniProt: Q6TCH7OMIM: 614577

This gene encodes a seven-transmembrane protein localized in the Golgi apparatus in mammalian cells. The encoded protein belongs to the progestin and adipoQ receptor (PAQR) family. This protein functions as a tumor suppressor by inhibiting the Raf/MEK/ERK signaling cascade. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.92
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.92LOEUF
pLI 0.000
Z-score 1.83
OE 0.54 (0.33–0.92)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.60Z-score
OE missense 0.87 (0.77–1.00)
153 obs / 175.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.33–0.92)
0≤0.351.4
Missense OE?0.87 (0.77–1.00)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 10 / 18.5Missense obs/exp: 153 / 175.2Syn Z: -0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PAQR3 · 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