PAQR4

Chr 16

progestin and adipoQ receptor family member 4

Enables molecular adaptor activity. Involved in protein stabilization and regulation of ceramide biosynthetic process. Located in Golgi membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.70
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.70LOEUF
pLI 0.000
Z-score -0.03
OE 1.01 (0.611.70)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.41Z-score
OE missense 1.09 (0.971.22)
196 obs / 180.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.01 (0.611.70)
00.351.4
Missense OE?1.09 (0.971.22)
00.61.4
Synonymous OE?1.21
01.21.6
LoF obs/exp: 9 / 8.9Missense obs/exp: 196 / 180.4Syn Z: -1.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PAQR4 · 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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