IL20RA

Chr 6

interleukin 20 receptor subunit alpha

Also known as: CRF2-8, IL-20R-alpha, IL-20R1, IL-20RA

NCBI Gene: 53832ENSG00000016402UniProt: Q9UHF4

This gene encodes a member of the type II cytokine receptor family. The encoded protein is a subunit of the receptor for interleukin 20, a cytokine that may be involved in epidermal function. The interleukin 20 receptor is a heterodimeric complex consisting of the encoded protein and interleukin 20 receptor beta. This gene and interleukin 20 receptor beta are highly expressed in skin, and are upregulated in psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

93
ClinVar variants
16
Pathogenic / LP
0.03
pLI score
0
Active trials
Clinical Summary— IL20RA
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.33) despite low pLI — interpret in context.
📋
ClinVar Variants
16 Pathogenic / Likely Pathogenic· 74 VUS of 93 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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.
0.64LOEUF
pLI 0.027
Z-score 2.68
OE 0.33 (0.18–0.64)
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.
0.71Z-score
OE missense 0.88 (0.79–0.98)
252 obs / 285.9 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.0.33 (0.18–0.64)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.88 (0.79–0.98)
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.0.87
0≤1.21.6
LoF obs/exp: 6 / 18.4Missense obs/exp: 252 / 285.9Syn Z: 1.11

ClinVar Variant Classifications

93 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic16
VUS74
Likely Benign1
Benign2
16
Pathogenic
74
VUS
1
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
16
0
16
Likely Pathogenic
0
0
0
0
0
VUS
0
72
2
0
74
Likely Benign
0
0
1
0
1
Benign
0
0
2
0
2
Total07221093

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

View in ClinVar →

Protein Context — Lollipop Plot

IL20RA · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Paraneoplastic or not? Sirtuin 2 in anti-N-methyl-d-aspartate receptor encephalitis.
Stevens-Jones O et al.·Eur J Neurol
2023
Deciphering the role of CX3CL1-CX3CR1 in aortic aneurysm pathogenesis: insights from Mendelian randomization and transcriptomic analyses.
Qian X et al.·Front Immunol
2024
The Interleukin-20 Cytokine Family in Liver Disease.
Caparrós E et al.·Front Immunol
2018Review
The Immune Microenvironment Landscape of Pituitary NeuroEndocrine Tumors, a Transcriptomic Approach.
Vela-Patiño S et al.·Genes (Basel)
2024
The predictive value of TNF family for pulmonary tuberculosis: a pooled causal effect analysis of multiple datasets.
Mo W et al.·Front Immunol
2024Meta-analysis
Case Report: Serum sickness induced by dupilumab-clinical insights and Olinkproteomic analysis.
Zhu H et al.·Front Immunol
2025Case report
Corticotropin releasing hormone as an identifier of bronchiolitis obliterans syndrome.
Niroomand A et al.·Sci Rep
2022
Osteochondrosis and osteomalacia are distinguished by inflammatory factors and metabolites.
Chen J et al.·Medicine (Baltimore)
2026
The Mediation of Circulating Inflammatory Proteins in the Causal Pathway from Immune Cells to COPD.
Yan K et al.·Int J Chron Obstruct Pulmon Dis
2025
Mendelian Randomization Analysis Reveal the Role of Circulating Inflammatory Proteins in Mediating Functional Brain Networks and Peripheral Neuropathic Pain Effects.
Liu WH et al.·Brain Behav
2025Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Decreased IL20RA expression serves as a predictor of unfavorable prognosis in endometrial cancer.
Liu YF et al.·Discov Oncol
2025🔓 Open Access
The signature based on interleukin family and receptors identified IL19 and IL20RA in promoting nephroblastoma progression through STAT3 pathway.
Ding C et al.·Sci Rep
2025🔓 Open Access
Programmed cell death-related gene IL20RA facilitates tumor progression and remodels tumor microenvironment in thyroid cancer.
Wang Y et al.·Sci Rep
2025🔓 Open AccessFunctional
IL20RA Is the Key Factor Contributing to the Stronger Antioxidant Capacity of Rongchang Pig Sertoli Cells.
Zheng QY et al.·Antioxidants (Basel)
2024🔓 Open Access
MicroRNA 452 regulates IL20RA-mediated JAK1/STAT3 pathway in inflammatory colitis and colorectal cancer.
Lamichhane S et al.·Inflamm Res
2021
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