IL17REL

Chr 22

interleukin 17 receptor E like

NCBI Gene: 400935ENSG00000188263UniProt: Q6ZVW7

Predicted to enable interleukin-17 receptor activity. Predicted to be involved in cytokine-mediated signaling pathway. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

225
ClinVar variants
137
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— IL17REL
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
137 Pathogenic / Likely Pathogenic· 75 VUS of 225 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.
0.72LOEUF
pLI 0.002
Z-score 2.50
OE 0.40 (0.23–0.72)
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.
0.29Z-score
OE missense 0.94 (0.84–1.06)
187 obs / 198.4 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.0.40 (0.23–0.72)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.94 (0.84–1.06)
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.1.10
0≤1.21.6
LoF obs/exp: 8 / 20.1Missense obs/exp: 187 / 198.4Syn Z: -0.70

ClinVar Variant Classifications

225 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic136
Likely Pathogenic1
VUS75
Likely Benign10
Benign1
136
Pathogenic
1
Likely Pathogenic
75
VUS
10
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
136
0
136
Likely Pathogenic
0
0
1
0
1
VUS
1
66
8
0
75
Likely Benign
0
3
0
7
10
Benign
0
0
1
0
1
Total1691467223

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

View in ClinVar →

Protein Context — Lollipop Plot

IL17REL · 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
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Comprehensive analysis of mitophagy in HPV-related head and neck squamous cell carcinoma.
Yanan L et al.·Sci Rep
2023
Developing a prognostic model for skin melanoma based on the persistent tumor mutation burden and determining IL17REL as a therapeutic target.
Xu M et al.·J Cancer Res Clin Oncol
2024Functional
Male-specific association of the FCGR2A His167Arg polymorphism with Kawasaki disease.
Kwon YC et al.·PLoS One
2017
Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.
Moon CM et al.·Inflamm Bowel Dis
2018
Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn's Disease?
Oh SH et al.·Gut Liver
2015
The Immune Microenvironment Landscape of Pituitary NeuroEndocrine Tumors, a Transcriptomic Approach.
Vela-Patiño S et al.·Genes (Basel)
2024
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