IL36B Gene - Interleukin 36 Beta
Cytokine of the IL-1 family involved in skin inflammation and immune response
Gene Information Card
| Symbol | IL36B |
|---|---|
| Full Name | Interleukin 36 Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 2q14.1 |
| NCBI Gene ID | 27177 ncbi.nlm.nih.gov/gene/27177 |
| Ensembl ID | ENSG00000138696 |
| UniProt ID | Q9NZH7 |
| OMIM ID | 605542 |
| HGNC ID | 15560 |
| Aliases | IL-1F8, FIL1E, IL1H2, IL1F8, IL-36B |
Description
IL36B (interleukin 36 beta) is a member of the interleukin 1 (IL-1) cytokine family. It is primarily expressed in epithelial tissues, including skin, and plays a key role in innate and adaptive immune responses. IL36B signals through the IL-36 receptor (IL-1RL2) and activates NF-kappa-B and MAPK pathways, promoting inflammation. Dysregulation of IL36B is associated with inflammatory skin diseases such as psoriasis and generalized pustular psoriasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Psoriasis | Overexpression of IL36B in keratinocytes drives IL-36 receptor signaling, leading to neutrophil recruitment and chronic inflammation. | NCBI Gene, OMIM |
| Generalized pustular psoriasis | Gain-of-function mutations in IL36RN (receptor antagonist) can lead to unopposed IL36B activity; IL36B itself may harbor rare variants. | OMIM, ClinVar |
| Inflammatory bowel disease | IL36B is upregulated in colonic mucosa and contributes to Th17-mediated inflammation. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.3 | Low |
| Lung | 6.1 | Low |
| Spleen | 4.2 | Low |
| Bone marrow | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Keratinocytes | 45.2 | High expression in primary keratinocytes |
| Monocytes | 12.1 | Moderate expression upon stimulation |
| Macrophages | 8.7 | Low baseline, induced by LPS |
| Fibroblasts | 3.4 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.338C>T (p.Pro113Leu) | Missense | Rare | Unknown functional effect; reported in ClinVar |
| c.1A>G (p.Met1?) | Start loss | Rare | Likely loss of function; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in IL36B; variants are rare and of uncertain significance.
Gain of Function (GOF)
No confirmed gain-of-function mutations in IL36B; however, overexpression in psoriasis suggests a pro-inflammatory role.
Dominant Negative (DN)
Not described for IL36B.
View complete mutation data:
Gene Ontology (GO)
| • cytokine activity (GO:0005125) | • extracellular space (GO:0005615) |
| • inflammatory response (GO:0006954) | • interleukin-1-mediated signaling pathway (GO:0070498) |
| • signal transduction (GO:0007165) |
Pathways
• IL-1 family signaling pathway (Reactome: R-HSA-446652)
• Interleukin-36 signaling (Reactome: R-HSA-9014826)
• NF-kappa B signaling pathway (KEGG: hsa04064)
Protein Summary
IL36B is a 17.5 kDa cytokine (157 amino acids) that belongs to the IL-1 family. It is synthesized as a precursor and requires proteolytic cleavage for full activity. The mature protein binds to the IL-36 receptor (IL-1RL2) and recruits the IL-1RAcP co-receptor, activating downstream NF-kappa-B and MAPK pathways. IL36B is highly expressed in skin keratinocytes and plays a central role in cutaneous inflammation, particularly in psoriasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL36B Knockout HEK293 Cell Line | EDJ-KQ8709 | Human | 27177 | Details Get a Quote |
| IL36B Knockout HeLa Cell Line | EDJ-KQ56021 | Human | 27177 | Details Get a Quote |
| IL36B Knockout A-549 Cell Line | EDJ-KQ64507 | Human | 27177 | Details Get a Quote |
| IL36B Knockout HCT 116 Cell Line | EDJ-KQ72965 | Human | 27177 | Details Get a Quote |
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