IL17F

Chr 6

interleukin 17F

Also known as: CANDF6, IL-17F, ML-1, ML1

NCBI Gene: 112744ENSG00000112116UniProt: Q96PD4

The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

?Candidiasis, familial, 6, autosomal dominantMIM #613956
190
ClinVar variants
11
Pathogenic / LP
0.04
pLI score
3
Active trials
Clinical Summary— IL17F
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.04) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic· 105 VUS of 190 total submissions
💊
Clinical Trials
3 active or recruiting trials — potential therapeutic options may be available

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.
1.18LOEUF
pLI 0.039
Z-score 1.29
OE 0.46 (0.21–1.18)
Tolerant

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.
-0.16Z-score
OE missense 1.05 (0.89–1.23)
103 obs / 98.5 exp
Tolerant

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.0.46 (0.21–1.18)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.05 (0.89–1.23)
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.1.40
0≤1.21.6
LoF obs/exp: 3 / 6.6Missense obs/exp: 103 / 98.5Syn Z: -2.00

ClinVar Variant Classifications

190 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic9
Likely Pathogenic2
VUS105
Likely Benign49
Benign14
Conflicting11
9
Pathogenic
2
Likely Pathogenic
105
VUS
49
Likely Benign
14
Benign
11
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
9
0
9
Likely Pathogenic
0
0
2
0
2
VUS
4
90
11
0
105
Likely Benign
0
1
8
40
49
Benign
0
3
9
2
14
Conflicting
—11
Total4943942190

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

IL17F · 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
INTERLEUKIN 17F; IL17F
MIM #606496 · *

?Candidiasis, familial, 6, autosomal dominant

MIM #613956

Molecular basis of disorder known

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
The IL-17 Family of Cytokines in Health and Disease.
McGeachy MJ et al.·Immunity
2019Review
Imiquimod-induced psoriasis-like skin inflammation in mice is mediated via the IL-23/IL-17 axis.
van der Fits L et al.·J Immunol
2009
Sex-dependent APOE4 neutrophil-microglia interactions drive cognitive impairment in Alzheimer's disease.
Rosenzweig N et al.·Nat Med
2024
Efficacy and safety of bimekizumab in patients with moderate-to-severe hidradenitis suppurativa (BE HEARD I and BE HEARD II): two 48-week, randomised, double-blind, placebo-controlled, multicentre phase 3 trials.
Kimball AB et al.·Lancet
2024Clinical trial
Role of the IL-23/IL-17 Pathway in Rheumatic Diseases: An Overview.
Schinocca C et al.·Front Immunol
2021Review
Serum Amyloid A Proteins Induce Pathogenic Th17 Cells and Promote Inflammatory Disease.
Lee JY et al.·Cell
2020
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
Pathogenic Role of IL-17 and Therapeutic Targeting of IL-17F in Psoriatic Arthritis and Spondyloarthropathies.
Sánchez-Rodríguez G et al.·Int J Mol Sci
2023Review
Dual IL-17A and IL-17F neutralisation by bimekizumab in psoriatic arthritis: evidence from preclinical experiments and a randomised placebo-controlled clinical trial that IL-17F contributes to human chronic tissue inflammation.
Glatt S et al.·Ann Rheum Dis
2018Clinical trial
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Mast cells express IL17A, IL17F and RORC in lesional psoriatic skin, are activated before therapy and persist in high numbers in a resting state with IL-17A positivity after treatment.
Benezeder T et al.·J Dermatol Sci
2025
Allelic, Genotypic, and Haplotypic Analysis of Cytokine IL17A, IL17F, and Toll-like Receptor TLR4 Gene Polymorphisms in Metabolic-Dysfunction-Associated Steatotic Liver Disease: Insights from an Exploratory Study.
Coste SC et al.·Life (Basel)
2024🔓 Open Access
NOTCH1 is positively correlated with IL17F in Helicobacter pylori infection and a biomarker for mucosal injury.
Jinling X et al.·iScience
2024🔓 Open Access
Investigation of the relationship between IL17A, IL17F and ILR1N polymorphisms and COVID-19 severity: The predictive role of IL17A rs2275913 polymorphism in the clinical course of COVID-19.
Cakmak Genc G et al.·Int J Immunogenet
2023
Comparative molecular docking analysis for analyzing the inhibitory effect of Anakinra and Ustekinumab against IL17F.
Nisar H et al.·J Biomol Struct Dyn
2023
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
ALS (Amyotrophic Lateral Sclerosis)FTDNeuropathic

Disease Biosignatures in ALS/FTD Spectrum: New Impactful Biological Perspectives Beyond Clinical Approaches

NOT YET RECRUITING
NCT06856850Fondazione I.R.C.C.S. Istituto Neurologico Carlo BestaStarted 2025-06
Chronic Spontaneous Urticaria (CSU)Hidradenitis Suppurativa (HS)Psoriasis (PsO)

SKIN Disease Profiling by an Exploratory, pRospective, Biomarker Study in dermatoloGY Practice (SKINERGY)

RECRUITING
NCT07021495Leiden University Medical CenterStarted 2025-07-29
Rectal Cancer

Study of the Predictive and Prognostic Role of Pharmacogenetic and Radiogenic Variants on the Response to Neoadjuvant Chemoradiation Therapy in Patients With Locally Advanced Rectal Cancer

NOT YET RECRUITING
NCT06616870Centro di Riferimento Oncologico - AvianoStarted 2024-10-03

External Resources

Links to major genomics databases and tools