IL1RN: Interleukin 1 Receptor Antagonist
Key regulator of IL-1 inflammatory signaling
Gene Information Card
| Symbol | IL1RN |
|---|---|
| Full Name | Interleukin 1 Receptor Antagonist |
| Gene Type | Protein coding |
| Chromosomal Location | 2q14.1 |
| NCBI Gene ID | 3557 ncbi.nlm.nih.gov/gene/3557 |
| Ensembl ID | ENSG00000136689 |
| UniProt ID | P18510 |
| OMIM ID | 147679 |
| HGNC ID | 6000 |
| Aliases | IL-1RN, IL-1ra, IRAP, IL1F3, ICIL-1RA |
Description
The IL1RN gene encodes the interleukin-1 receptor antagonist (IL-1Ra), a member of the interleukin-1 cytokine family. This protein binds to the IL-1 receptor (IL1R1) and competitively inhibits the binding of IL-1 alpha and IL-1 beta, thereby modulating the inflammatory response. IL1RN is critical for maintaining immune homeostasis and preventing excessive inflammation. Mutations in this gene are associated with deficiency of interleukin-1 receptor antagonist (DIRA), a severe autoinflammatory syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Deficiency of Interleukin-1 Receptor Antagonist (DIRA) | Loss-of-function mutations in IL1RN lead to unopposed IL-1 signaling, causing severe systemic inflammation, pustular rash, and bone lesions. | OMIM #612852; ClinVar |
| Interleukin-1 Receptor Antagonist Deficiency (IRAD) | Same as DIRA; homozygous or compound heterozygous mutations result in absent or nonfunctional IL-1Ra. | NCBI Gene; OMIM |
| Psoriasis (susceptibility) | Polymorphisms in IL1RN (e.g., intronic VNTR) may alter IL-1Ra levels, contributing to psoriasis risk. | NCBI Gene; GWAS studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Spleen | 6.7 | Low |
| Liver | 4.2 | Low |
| Whole blood | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.2 | High expression; induced by LPS |
| HeLa (cervical) | 2.1 | Low baseline expression |
| A549 (lung) | 5.8 | Moderate expression |
| HUVEC (endothelial) | 4.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.156_157delCA | Frameshift | Rare | Loss of function; associated with DIRA |
| c.329C>T (p.Pro110Leu) | Missense | Rare | Loss of function; reduced IL-1Ra activity |
| c.130C>T (p.Arg44*) | Nonsense | Rare | Loss of function; premature truncation |
| VNTR (intron 2) | Polymorphism | Common | Variable number of tandem repeats; associated with altered IL-1Ra levels and disease susceptibility |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous loss-of-function mutations (e.g., frameshift, nonsense, missense) cause DIRA due to absent or nonfunctional IL-1Ra.
Gain of Function (GOF)
No gain-of-function mutations are currently described for IL1RN.
Dominant Negative (DN)
No dominant-negative mutations are currently described for IL1RN.
View complete mutation data：
Gene Ontology (GO)
| • cytokine activity (GO:0005125) | • interleukin-1 receptor antagonist activity (GO:0005152) |
| • extracellular space (GO:0005615) | • inflammatory response (GO:0006954) |
| • regulation of signaling receptor activity (GO:0010469) | • interleukin-1 beta production (GO:0032611) |
Pathways
• Interleukin-1 signaling (Reactome: R-HSA-446652)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
• IL-1 family signaling (WikiPathways: WP195)
Protein Summary
The IL-1 receptor antagonist (IL-1Ra) is a 17-20 kDa secreted glycoprotein that binds to the IL-1 receptor (IL1R1) with high affinity, blocking the binding of IL-1α and IL-1β. It is produced by various cell types including monocytes, macrophages, and epithelial cells. IL-1Ra is a key anti-inflammatory mediator; its deficiency leads to unopposed IL-1 signaling and severe autoinflammation. The protein is encoded by the IL1RN gene located on chromosome 2q14.1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL1RN Knockout HEK293 Cell Line | EDJ-KQ3032 | Human | 3557 | Details Get a Quote |
| IL1RN Knockout HeLa Cell Line | EDJ-KQ53629 | Human | 3557 | Details Get a Quote |
| IL1RN Knockout A-549 Cell Line | EDJ-KQ62104 | Human | 3557 | Details Get a Quote |
| IL1RN Knockout HCT 116 Cell Line | EDJ-KQ70591 | Human | 3557 | Details Get a Quote |
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