IL36A Gene - Interleukin 36 Alpha
Cytokine in inflammatory and immune responses
Gene Information Card
| Symbol | IL36A |
|---|---|
| Full Name | Interleukin 36 Alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 2q14.1 |
| NCBI Gene ID | 27179 ncbi.nlm.nih.gov/gene/27179 |
| Ensembl ID | ENSG00000136695 |
| UniProt ID | Q9UHA7 |
| OMIM ID | 605509 |
| HGNC ID | 15561 |
| Aliases | IL1F6, FIL1E, IL1E, IL-36A, IL-36alpha |
Description
IL36A (Interleukin 36 Alpha) is a member of the interleukin-1 cytokine family. It is primarily expressed in epithelial tissues and plays a key role in inflammatory and immune responses, particularly in skin. IL36A signals through the IL-36 receptor (IL1RL2/IL-36R) and activates NF-kappa-B and MAPK pathways. Dysregulation of IL36A is associated with inflammatory skin diseases such as psoriasis and pustular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Psoriasis | IL36A overexpression drives IL-36R signaling, promoting keratinocyte proliferation and inflammation | PMID: 26649895 |
| Generalized pustular psoriasis (GPP) | Gain-of-function mutations in IL36RN (antagonist) lead to unopposed IL36A activity; IL36A itself may be upregulated | PMID: 20657596 |
| Inflammatory bowel disease | IL36A is elevated in inflamed colonic mucosa, contributing to Th17 responses | PMID: 27008867 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.3 | Medium |
| Lung | 4.1 | Low |
| Spleen | 1.2 | Low |
| Bone marrow | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 15.2 | High expression |
| A549 (lung epithelial) | 6.7 | Moderate expression |
| THP-1 (monocytes) | 2.1 | Low expression |
| HeLa (cervical) | 0.5 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Thr35Met) | Missense | <0.01% | Unknown functional effect |
| c.338G>A (p.Arg113His) | Missense | <0.01% | Reported in psoriasis cases |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) likely abolish protein production.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in IL36A; overexpression is observed in disease.
Dominant Negative (DN)
Not described for IL36A.
View complete mutation data:
Gene Ontology (GO)
Pathways
• IL-36 signaling pathway (Reactome: R-HSA-9014826)
• Interleukin-1 family signaling (KEGG: hsa04657)
• NF-kappa B signaling pathway (KEGG: hsa04064)
Protein Summary
Interleukin-36 alpha (IL-36A) is a 158-amino-acid cytokine with a molecular weight of approximately 17 kDa. It is synthesized as a precursor that requires N-terminal processing for full activity. The mature protein binds to the IL-36 receptor complex (IL-36R/IL-1RAcP) to activate downstream signaling cascades, including NF-kB and MAP kinases. IL-36A is a key mediator of skin inflammation and is implicated in psoriasis pathogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL36A Knockout HEK293 Cell Line | EDJ-KQ7970 | Human | 27179 | Details Get a Quote |
| IL36A Knockout HeLa Cell Line | EDJ-KQ56023 | Human | 27179 | Details Get a Quote |
| IL36A Knockout A-549 Cell Line | EDJ-KQ64509 | Human | 27179 | Details Get a Quote |
| IL36A Knockout HCT 116 Cell Line | EDJ-KQ72967 | Human | 27179 | Details Get a Quote |
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