GPR55
Chr 2G protein-coupled receptor 55
Also known as: LPIR1
GPR55 encodes a G-protein coupled receptor that binds lysophospholipid ligands and activates multiple intracellular signaling pathways, including calcium release and RHOA-mediated cytoskeletal changes. The gene shows very low constraint against loss-of-function variants (pLI ~0, LOEUF 1.7), and no established Mendelian diseases have been definitively linked to GPR55 mutations in the pediatric population. While the receptor may influence lipid metabolism and cellular morphology, its role in human genetic disease remains unclear.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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.
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
85 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 29 | 0 | 29 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 48 | 2 | 0 | 50 |
Likely Benign | 0 | 3 | 0 | 0 | 3 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 52 | 31 | 0 | 83 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GPR55 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools