C5AR2
Chr 19complement C5a receptor 2
Also known as: C5L2, GPF77, GPR77
The C5AR2 protein is a G-protein coupled receptor that binds complement anaphylatoxins (C5a, C3a, C4a) and their dearginated forms, functioning as part of the innate immune system's complement cascade. Unlike typical GPCRs, it does not associate with intracellular G-proteins and may act as a decoy receptor or signal through beta-arrestin pathways to modulate inflammatory responses. No pediatric neurogenetic disorders have been definitively associated with C5AR2 mutations in the provided data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C5AR2 · 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