IL17RC

Chr 3AR

interleukin 17 receptor C

Also known as: CANDF9, IL17-RL, IL17RL

NCBI Gene: 84818ENSG00000163702UniProt: Q8NAC3

This gene encodes a single-pass type I membrane protein that shares similarity with the interleukin-17 receptor (IL-17RA). Unlike IL-17RA, which is predominantly expressed in hemopoietic cells, and binds with high affinity to only IL-17A, this protein is expressed in nonhemopoietic tissues, and binds both IL-17A and IL-17F with similar affinities. The proinflammatory cytokines, IL-17A and IL-17F, have been implicated in the progression of inflammatory and autoimmune diseases. Multiple alternatively spliced transcript variants encoding different isoforms have been detected for this gene, and it has been proposed that soluble, secreted proteins lacking transmembrane and intracellular domains may function as extracellular antagonists to cytokine signaling. [provided by RefSeq, Feb 2011]

Primary Disease Associations & Inheritance

Candidiasis, familial, 9MIM #616445
AR
579
ClinVar variants
19
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— IL17RC
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
19 Pathogenic / Likely Pathogenic· 319 VUS of 579 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.87LOEUF
pLI 0.000
Z-score 2.28
OE 0.64 (0.47–0.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.09Z-score
OE missense 0.99 (0.91–1.07)
441 obs / 446.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.64 (0.47–0.87)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.99 (0.91–1.07)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.11
0≤1.21.6
LoF obs/exp: 29 / 45.6Missense obs/exp: 441 / 446.5Syn Z: -1.26

ClinVar Variant Classifications

579 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic15
Likely Pathogenic4
VUS319
Likely Benign224
Benign12
Conflicting5
15
Pathogenic
4
Likely Pathogenic
319
VUS
224
Likely Benign
12
Benign
5
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
15
0
15
Likely Pathogenic
2
0
2
0
4
VUS
17
254
42
6
319
Likely Benign
0
5
73
146
224
Benign
0
2
5
5
12
Conflicting
—5
Total19261137157579

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.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Candidiasis, familial, 9

MIM #616445

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Transcriptomic profiling of vitiligo patients shows polar immune dysregulation in involved and uninvolved skin.
Brunner PM et al.·J Allergy Clin Immunol
2025Cohort
Reciprocal crosstalk between Th17 and mesothelial cells promotes metastasis-associated adhesion of ovarian cancer cells.
Neuhaus F et al.·Clin Transl Med
2024
Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis.
Zheng Y et al.·J Hum Genet
2025
Neuronal Mechanisms of Psoriatic Itch: Role of IL-17R/ERK/TRPV4 Signaling Pathway.
Zhang Q et al.·J Invest Dermatol
2025Functional
Identification of cytokine-induced cell communications by pan-cancer meta-analysis.
Liu Y et al.·PeerJ
2023Meta-analysis
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.
Noma K et al.·J Clin Immunol
2023
IL17RC affects the predisposition to thoracic ossification of the posterior longitudinal ligament.
Wang P et al.·J Orthop Surg Res
2019Natural history
Altered expression pattern of immune response-related genes and isoforms in hypersensitivity pneumonitis lung fibroblasts.
Torres-Machorro AL et al.·Sci Rep
2024
Main human inborn errors of immunity leading to fungal infections.
Cifaldi C et al.·Clin Microbiol Infect
2022Review
Association of IL17RC and COL6A1 genetic polymorphisms with susceptibility to ossification of the thoracic posterior longitudinal ligament in Chinese patients.
Wang P et al.·J Orthop Surg Res
2018Cohort
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools