IL17C
Chr 16interleukin 17C
Also known as: CX2, IL-17C
The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [provided by RefSeq, Jul 2008]
Clinical Summary— IL17C
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
62 Pathogenic / Likely Pathogenic· 59 VUS of 129 total submissions
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
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.
1.73LOEUF
pLI 0.000
Z-score 0.13
OE 0.94 (0.51–1.73)
Highly tolerant — LoF variants common in population
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.
-0.81Z-score
OE missense 1.20 (1.05–1.37)
156 obs / 130.0 exp
Tolerant to missense variation
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.0.94 (0.51–1.73)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.20 (1.05–1.37)
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.1.29
0≤1.21.6
LoF obs/exp: 6 / 6.4Missense obs/exp: 156 / 130.0Syn Z: -1.79
ClinVar Variant Classifications
129 submitted variants in ClinVar
Classification Summary
Pathogenic55
Likely Pathogenic7
VUS59
Likely Benign5
Benign2
Conflicting1
55
Pathogenic
7
Likely Pathogenic
59
VUS
5
Likely Benign
2
Benign
1
Conflicting
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 55 | 0 | 55 |
Likely Pathogenic | 0 | 0 | 7 | 0 | 7 |
VUS | 0 | 42 | 17 | 0 | 59 |
Likely Benign | 0 | 2 | 2 | 1 | 5 |
Benign | 0 | 1 | 0 | 1 | 2 |
Conflicting | — | 1 | |||
| Total | 0 | 45 | 81 | 2 | 129 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
IL17C · 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 →Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
TNFSF15 and MIA Variant Associated with Immunotherapy and Prognostic Evaluation in Esophageal Cancer
You J et al.·J Oncol
2023
Predicted regulatory SNPs reveal potential drug targets and novel companion diagnostics in psoriasis
Ruiz Ramírez AV et al.·J Transl Autoimmun
2021
Suppression of TCF4 promotes a ZC3H12A-mediated self-sustaining inflammatory feedback cycle involving IL-17RA/IL-17RE epidermal signaling.
Jiang Y et al.·JCI Insight
2024
Determination of immune responses in mucosal lymphoid tissues following infectious laryngotracheitis virus (ILTV) eye drop and vent brush vaccination of chickens.
Tran TT et al.·Avian Pathol
2025
The differential roles of heat shock protein 90 isoforms in skin inflammation: Anti-inflammatory potential of TRAP1 inhibition.
Ben Abdallah H et al.·J Invest Dermatol
2025
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
The IL-17 Family of Cytokines in Psoriasis: IL-17A and Beyond.
Brembilla NC et al.·Front Immunol
2018Review
IL-17 in inflammatory skin diseases psoriasis and hidradenitis suppurativa.
Fletcher JM et al.·Clin Exp Immunol
2020Review
Tape-Strip Proteomic Profiling of Atopic Dermatitis on Dupilumab Identifies Minimally Invasive Biomarkers.
He H et al.·Front Immunol
2020
A randomized double-blind placebo-controlled trial of probiotics in post-surgical colorectal cancer.
Zaharuddin L et al.·BMC Gastroenterol
2019
Tape strips detect distinct immune and barrier profiles in atopic dermatitis and psoriasis.
He H et al.·J Allergy Clin Immunol
2021
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Nonnegative matrix factorization analysis and multiple machine learning methods identified IL17C and ACOXL as novel diagnostic biomarkers for atherosclerosis.
Rao L et al.·BMC Bioinformatics
2023Open Access
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools