GPR82

Chr X

G protein-coupled receptor 82

The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. [provided by RefSeq, Sep 2011]

0
Active trials
0
Pathogenic / LP
0
ClinVar variants
0
Pubs (1 yr)
0.6
Missense Z
1.08
LOEUF
Clinical SummaryGPR82
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.34) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.08LOEUF
pLI 0.144
Z-score 1.47
OE 0.34 (0.141.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.56Z-score
OE missense 0.85 (0.731.01)
101 obs / 118.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.34 (0.141.08)
00.351.4
Missense OE0.85 (0.731.01)
00.61.4
Synonymous OE1.33
01.21.6
LoF obs/exp: 2 / 5.8Missense obs/exp: 101 / 118.2Syn Z: -1.70
GOFDN
DN
0.7133th %ile
GOF
0.77top 25%
LOF
0.2387th %ile

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

GOFprediction above median
DNprediction 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

0 submitted variants in ClinVar

GPR82 · 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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Clinical Literature
Landmark / reviewRecent case evidence