CD93
Chr 20CD93 molecule
Also known as: C1QR1, C1qR(P), C1qRP, CDw93, ECSM3, MXRA4, dJ737E23.1
CD93 encodes a cell surface glycoprotein that functions as a receptor for defense collagens and extracellular matrix proteins, regulating phagocytosis of apoptotic cells, endothelial cell adhesion, and angiogenesis. Mutations cause autosomal recessive deficiency of complement component C4, leading to increased susceptibility to infections and potential autoimmune manifestations. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with recessive inheritance requiring biallelic mutations for disease manifestation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is gain-of-function.
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
CD93 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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