IL1RN Chromosome 2
Interleukin 1 receptor antagonist
Upload your DNA to see your personal genotypes for variants in IL1RN.
What This Gene Does
The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses, particularly in the acute phase of infection and inflammation. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
Interleukins
Locus Type
gene with protein product
Location
2q14.1
Ensembl
ENSG00000136689
Associated Conditions (10)
Sterile multifocal osteomyelitis with periostitis and pustulosis
Autoinflammatory syndrome
Inborn genetic diseases
IL1RN-related disorder
Interstitial lung disease 2
Malignant tumor of urinary bladder
Gastric cancer susceptibility after h. pylori infection
Microvascular complications of diabetes
susceptibility to
4
Key Variants
RS114929884
Conflicting classifications of pathogenicity
Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis
Health Risk
RS1274769729
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome
Health Risk
RS1442053811
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome
Health Risk
RS146473306
Conflicting classifications of pathogenicity
Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis
Health Risk
RS146491054
Conflicting classifications of pathogenicity
Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis
Health Risk
RS368843442
Conflicting classifications of pathogenicity
Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis
Health Risk
RS373136455
Conflicting classifications of pathogenicity
Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis
Health Risk
RS374268790
Conflicting classifications of pathogenicity
Sterile multifocal osteomyelitis with periostitis and pustulosis, Inborn genetic diseases, Sterile multifocal osteomyelitis with periostitis and pustulosis
Health Risk
RS4252041
Conflicting classifications of pathogenicity
Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis
Health Risk
RS45507693
Conflicting classifications of pathogenicity
Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome, IL1RN-related disorder
Health Risk
RS561872655
Conflicting classifications of pathogenicity
Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis
Health Risk
RS751937390
Conflicting classifications of pathogenicity
Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114929884 | Health Risk | Conflicting classifications of pathogenicity | Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS1274769729 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome |
| RS1442053811 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome |
| RS146473306 | Health Risk | Conflicting classifications of pathogenicity | Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS146491054 | Health Risk | Conflicting classifications of pathogenicity | Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS368843442 | Health Risk | Conflicting classifications of pathogenicity | Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS373136455 | Health Risk | Conflicting classifications of pathogenicity | Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS374268790 | Health Risk | Conflicting classifications of pathogenicity | Sterile multifocal osteomyelitis with periostitis and pustulosis, Inborn genetic diseases, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS4252041 | Health Risk | Conflicting classifications of pathogenicity | Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS45507693 | Health Risk | Conflicting classifications of pathogenicity | Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome, IL1RN-related disorder |
| RS561872655 | Health Risk | Conflicting classifications of pathogenicity | Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS751937390 | Health Risk | Conflicting classifications of pathogenicity | Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS760885026 | Health Risk | Conflicting classifications of pathogenicity | Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS1011480433 | Health Risk | Likely pathogenic | IL1RN-related disorder, IL1RN-related disorder |
| RS112879651 | Health Risk | Likely pathogenic | — |
| RS2104433206 | Health Risk | Likely pathogenic | Autoinflammatory syndrome, Autoinflammatory syndrome |
| RS2466945415 | Health Risk | Likely pathogenic | Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS763872895 | Health Risk | Likely pathogenic | Interstitial lung disease 2, Sterile multifocal osteomyelitis with periostitis and pustulosis, Malignant tumor of urinary bladder |
| RS1019766125 | Health Risk | Pathogenic | Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS121913161 | Health Risk | Pathogenic | Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS121913162 | Health Risk | Pathogenic | Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS1340890598 | Health Risk | Pathogenic | Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS2466916551 | Health Risk | Pathogenic | Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS2466916722 | Health Risk | Pathogenic | Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS672601268 | Health Risk | Pathogenic | Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis |
| RS2234663 | Health Risk | Pathogenic; risk factor | Gastric cancer susceptibility after h. pylori infection, Microvascular complications of diabetes, susceptibility to |