IL1RL2 (Interleukin 1 Receptor Like 2)
A member of the interleukin-1 receptor family involved in inflammatory signaling and immune regulation.
Gene Information Card
| Symbol | IL1RL2 |
|---|---|
| Full Name | Interleukin 1 Receptor Like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q12.1 |
| NCBI Gene ID | 8808 ncbi.nlm.nih.gov/gene/8808 |
| Ensembl ID | ENSG00000115594 |
| UniProt ID | Q9HB29 |
| OMIM ID | 605507 |
| HGNC ID | 5998 |
| Aliases | IL1Rrp2, IL-36R, IL36R, IL1RL2 |
Description
IL1RL2 encodes a member of the interleukin-1 receptor family, specifically the receptor for interleukin-36 (IL-36) cytokines. The protein forms a heterodimeric complex with the IL-1 receptor accessory protein (IL1RAP) to mediate IL-36 signaling, which plays a key role in inflammatory responses, particularly in skin and mucosal tissues. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Psoriasis | Gain-of-function variants in IL1RL2 enhance IL-36 signaling, promoting keratinocyte hyperproliferation and inflammation. | ClinVar, OMIM |
| Pustular psoriasis | Missense mutations (e.g., p.Arg48Trp) increase receptor activity, leading to excessive IL-36-driven neutrophil recruitment. | ClinVar, OMIM |
| Inflammatory bowel disease | IL1RL2 polymorphisms are associated with altered IL-36 signaling in intestinal epithelium, contributing to chronic inflammation. | NCBI Gene, GWAS catalog |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Low |
| Small intestine | 6.7 | Low |
| Colon | 5.9 | Low |
| Esophagus | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.2 | High expression; used in IL-36 response studies |
| A549 (lung carcinoma) | 7.1 | Moderate expression |
| THP-1 (monocyte) | 2.3 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.142C>T (p.Arg48Trp) | Missense | <0.01% | Gain-of-function; associated with pustular psoriasis |
| c.338G>A (p.Arg113His) | Missense | <0.01% | Likely gain-of-function; reported in inflammatory skin disease |
| c.1-?_*?_del | Deletion | Rare | Loss-of-function; may reduce IL-36 signaling |
Mutation functional classification
Loss of Function (LOF)
Deletions or nonsense mutations that truncate the receptor or impair ligand binding reduce IL-36 signaling, potentially dampening inflammation.
Gain of Function (GOF)
Missense mutations such as p.Arg48Trp enhance receptor activity, leading to exaggerated IL-36 responses and inflammatory skin disorders.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for IL1RL2.
View complete mutation data:
Gene Ontology (GO)
| • interleukin-1 receptor activity (GO:0004908) | • receptor activity (GO:0004872) |
| • signal transduction (GO:0007165) | • cytokine-mediated signaling pathway (GO:0019221) |
| • plasma membrane (GO:0005886) |
Pathways
• Interleukin-36 signaling pathway (Reactome: R-HSA-6785807)
• IL-1 family signaling (KEGG: hsa04657)
Protein Summary
IL1RL2 is a transmembrane receptor of the immunoglobulin-like superfamily. It contains three extracellular immunoglobulin-like domains and a cytoplasmic Toll/interleukin-1 receptor (TIR) domain. Upon binding IL-36α, IL-36β, or IL-36γ, it recruits IL1RAP and activates downstream NF-κB and MAPK pathways, leading to pro-inflammatory gene expression. The receptor is predominantly expressed in epithelial tissues and is a therapeutic target for inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL1RL2 Knockout HEK293 Cell Line | EDJ-KQ5680 | Human | 8808 | Details Get a Quote |
| IL1RL2 Knockout HeLa Cell Line | EDJ-KQ30349 | Human | 8808 | Details Get a Quote |
| IL1RL2 Knockout A-549 Cell Line | EDJ-KQ63492 | Human | 8808 | Details Get a Quote |
| IL1RL2 Knockout HCT 116 Cell Line | EDJ-KQ71962 | Human | 8808 | Details Get a Quote |
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