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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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IL1RN
interleukin 1 receptor antagonist
Chromosome 2 · 2q14.1
NCBI Gene: 3557Ensembl: ENSG00000136689.20HGNC: HGNC:6000UniProt: P18510
1,050PubMed Papers
22Diseases
0Drugs
13Pathogenic Variants
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
interleukin-1, type II receptor bindinginterleukin-1 receptor antagonist activitycytosolnegative regulation of heterotypic cell-cell adhesionsterile multifocal osteomyelitis with periostitis and pustulosisgoutAbdominal Aortic Aneurysmdiabetic retinopathy
✦AI Summary

IL1RN encodes interleukin-1 receptor antagonist (IL-1Ra), a soluble anti-inflammatory protein that competitively antagonizes interleukin-1 family cytokines (IL-1α and IL-1β) by binding their receptors, thereby protecting against immune dysregulation and uncontrolled systemic inflammation 1. IL-1Ra functions as a negative regulator of IL-1-mediated signaling, limiting inflammatory responses triggered by pathogenic stimuli 2. Genetically, IL1RN polymorphisms modulate disease susceptibility across multiple conditions. Maternal IL1RN*2 variants increase preterm delivery risk, particularly when preterm premature rupture of membranes occurs 1. Lower IL1RN mRNA expression associated with specific polymorphisms predisposes to idiopathic pulmonary fibrosis susceptibility 3. In coronary artery disease, the IL1RN+8006T/C polymorphism exhibits protective effects 4. Gene-environment interactions occur: rare IL1RN genotypes protect against asthma without environmental tobacco smoke exposure but increase early-onset asthma risk with childhood ETS exposure 2. IL1RN variants modulate COVID-19 severity; specific haplotypes reduce inflammatory markers and mortality 5. Additionally, IL1RN VNTR polymorphisms associate with male infertility 6 and chr2 obstructive pulmonary disease risk in East Asian populations 7. These findings demonstrate IL1RN's critical role in regulating inflammatory homeostasis across diverse physiological and pathological contexts.

Sources cited
1
Maternal IL1RN*2 variants increase preterm delivery risk, particularly with preterm premature rupture of membranes
PMID: 24588341
2
IL1RN VNTR*2 haploblock associates with idiopathic pulmonary fibrosis susceptibility; lower IL1RN mRNA expression predisposes to IPF
PMID: 22322675
3
IL1RN+8006T/C polymorphism provides protective effect against coronary heart disease in Chinese population
PMID: 29169428
4
IL1RN polymorphisms show gene-environment interaction with childhood environmental tobacco smoke exposure affecting asthma risk
PMID: 32204425
5
IL1RN haplotypes and specific SNV variants reduce inflammatory markers and mortality in SARS-CoV-2 infection
PMID: 38871359
6
IL1RN VNTR polymorphism associates with male infertility risk
PMID: 23251650
7
IL1RN VNTR polymorphism associates with COPD risk in East Asian populations
PMID: 25174605
Disease Associationsⓘ22
sterile multifocal osteomyelitis with periostitis and pustulosisOpen Targets
0.77Strong
goutOpen Targets
0.50Moderate
Abdominal Aortic AneurysmOpen Targets
0.43Moderate
diabetic retinopathyOpen Targets
0.37Weak
Ischemic strokeOpen Targets
0.35Weak
coronary artery diseaseOpen Targets
0.35Weak
venous thromboembolismOpen Targets
0.34Weak
autoinflammatory syndromeOpen Targets
0.34Weak
testicular hydroceleOpen Targets
0.30Weak
hypertrophic cardiomyopathyOpen Targets
0.29Weak
cervix erosionOpen Targets
0.27Weak
Cervical ectropionOpen Targets
0.22Weak
hypothyroidismOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
gastric cancerOpen Targets
0.17Weak
testicular diseaseOpen Targets
0.14Weak
idiopathic pulmonary fibrosisOpen Targets
0.12Weak
oral squamous cell carcinomaOpen Targets
0.10Weak
Takayasu arteritisOpen Targets
0.10Suggestive
esophageal squamous cell carcinomaOpen Targets
0.09Suggestive
Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosisUniProt
Microvascular complications of diabetes 4UniProt
Pathogenic Variants13
NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter)Pathogenic
Sterile multifocal osteomyelitis with periostitis and pustulosis|not provided
★★☆☆2025→ Residue 77
NM_173841.3(IL1RN):c.25G>T (p.Glu9Ter)Pathogenic
Sterile multifocal osteomyelitis with periostitis and pustulosis
★☆☆☆2024→ Residue 9
NM_173842.3(IL1RN):c.63A>G (p.Ser21=)Likely pathogenic
Interstitial lung disease 2|Sterile multifocal osteomyelitis with periostitis and pustulosis|Malignant tumor of urinary bladder
★☆☆☆2024→ Residue 21
NM_173841.3(IL1RN):c.52G>T (p.Glu18Ter)Pathogenic
Sterile multifocal osteomyelitis with periostitis and pustulosis
★☆☆☆2023→ Residue 18
NM_173842.3(IL1RN):c.213_227del (p.Asp72_Ile76del)Pathogenic
Sterile multifocal osteomyelitis with periostitis and pustulosis
★☆☆☆2023→ Residue 72
NM_173842.3(IL1RN):c.156_157del (p.Asn52fs)Pathogenic
not provided|Sterile multifocal osteomyelitis with periostitis and pustulosis
★☆☆☆2023→ Residue 52
NM_173842.3(IL1RN):c.141del (p.Phe48fs)Likely pathogenic
IL1RN-related disorder
★☆☆☆2022→ Residue 48
NM_173842.3(IL1RN):c.133C>T (p.Gln45Ter)Pathogenic
Sterile multifocal osteomyelitis with periostitis and pustulosis
★☆☆☆2022→ Residue 45
NM_173841.3(IL1RN):c.10+2T>CLikely pathogenic
Autoinflammatory syndrome
★☆☆☆2020
NM_173842.3(IL1RN):c.62C>G (p.Ser21Ter)Likely pathogenic
not provided
★☆☆☆2017→ Residue 21
NM_173842.3(IL1RN):c.46del (p.Leu16fs)Likely pathogenic
Sterile multifocal osteomyelitis with periostitis and pustulosis
★☆☆☆→ Residue 16
NM_173842.3(IL1RN):c.160C>T (p.Gln54Ter)Pathogenic
Sterile multifocal osteomyelitis with periostitis and pustulosis|not provided
☆☆☆☆2009→ Residue 54
NM_173842.3(IL1RN):c.206-516ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC[2]Pathogenic
Gastric cancer susceptibility after h. pylori infection|Microvascular complications of diabetes, susceptibility to, 4
☆☆☆☆2006
View on ClinVar ↗
Related Genes
CASP1Protein interaction100%CCL5Protein interaction100%CXCL8Protein interaction100%CXCL9Protein interaction100%CCR1Protein interaction100%NLRP3Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
53%
Lung
8%
Heart
0%
Ovary
0%
Brain
0%
Gene Interaction Network
Click a node to explore
IL1RNCASP1CCL5CXCL8CXCL9CCR1NLRP3
PROTEIN STRUCTURE
Preparing viewer…
PDB1ILT · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.51LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.81 [0.46–1.51]
RankingsWhere IL1RN stands among ~20K protein-coding genes
  • #148of 20,598
    Most Researched1,050 · top 1%
  • #2,552of 5,498
    Most Pathogenic Variants13
  • #15,208of 17,882
    Most Constrained (LOEUF)1.51
Genes detectedIL1RN
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Maternal and fetal IL1RN polymorphisms and the risk of preterm delivery: a meta-analysis.
PMID: 24588341
J Matern Fetal Neonatal Med · 2015
1.00
2
IL1RN genetic variations and risk of IPF: a meta-analysis and mRNA expression study.
PMID: 22322675
Immunogenetics · 2012
0.90
3
Genetic variability in the IL1RN gene and the balance between interleukin (IL)-1 receptor agonist and IL-1β in idiopathic pulmonary fibrosis.
PMID: 22059992
Clin Exp Immunol · 2011
0.86
4
IL1RN polymorphic gene and cagA-positive status independently increase the risk of noncardia gastric carcinoma.
PMID: 15704154
Int J Cancer · 2005
0.84
5
DIA-based analysis of the menstrual blood proteome identifies association between CXCL5 and IL1RN and endometriosis.
PMID: 37657716
J Proteomics · 2023
0.82