IL17RC
Chr 3ARinterleukin 17 receptor C
Also known as: CANDF9, IL17-RL, IL17RL
This protein functions as a receptor for the proinflammatory cytokines IL-17A and IL-17F, activating NF-kappa-B signaling pathways that are essential for antimicrobial host defense and stimulating production of antimicrobial peptides by epithelial cells. Autosomal recessive mutations cause familial candidiasis, characterized by chronic mucocutaneous candidal infections due to impaired immune responses against fungal pathogens. The gene shows extremely low constraint against loss-of-function variants (pLI near zero), consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
500 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 | 8 | 0 | 8 |
Likely Pathogenic | 4 | 0 | 1 | 0 | 5 |
VUS | 21 | 250 | 22 | 3 | 296 |
Likely Benign | 0 | 2 | 66 | 95 | 163 |
Benign | 0 | 0 | 2 | 0 | 2 |
Conflicting | — | 5 | |||
| Total | 25 | 252 | 99 | 98 | 479 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
IL17RC · 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