IL23A Gene (Interleukin 23 Subunit Alpha): Structure, Function, and Clinical Significance
A comprehensive biomedical overview of the IL23A gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | IL23A |
|---|---|
| Full Name | Interleukin 23 subunit alpha |
| Gene Type | protein coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 51561 ncbi.nlm.nih.gov/gene/51561 |
| Ensembl ID | ENSG00000110944 |
| UniProt ID | Q9NPF7 |
| OMIM ID | 605580 |
| HGNC ID | 15490 |
| Aliases | IL-23A, IL23P19, P19, SGRF |
Description
The IL23A gene encodes the p19 subunit of interleukin-23 (IL-23), a heterodimeric cytokine composed of p19 and p40 (shared with IL-12). IL-23 is produced by antigen-presenting cells and plays a critical role in the differentiation and maintenance of Th17 cells, which are key mediators of inflammatory and autoimmune responses. The gene is located on chromosome 12q13.2 and is expressed in various immune cells and tissues. IL-23 signaling is implicated in several chronic inflammatory diseases, making it a therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Psoriasis | IL-23 promotes Th17 cell survival and IL-17 production, driving skin inflammation and keratinocyte hyperproliferation. | Genome-wide association studies (GWAS) and functional studies; IL-23 inhibitors are effective in clinical trials. |
| Inflammatory Bowel Disease (Crohn's disease, Ulcerative colitis) | IL-23 enhances intestinal inflammation by promoting Th17 responses and inhibiting regulatory T cells. | Genetic association and therapeutic efficacy of anti-IL-23 antibodies (e.g., ustekinumab) in IBD. |
| Ankylosing Spondylitis | IL-23 contributes to entheseal inflammation and bone remodeling. | Elevated IL-23 levels in patients; anti-IL-23 therapies show benefit in clinical trials. |
| Multiple Sclerosis | IL-23 is involved in neuroinflammation and autoimmune demyelination. | Animal models (EAE) and genetic studies; IL-23 blockade reduces disease severity. |
| Rheumatoid Arthritis | IL-23 promotes synovial inflammation and joint destruction. | Elevated IL-23 in serum and synovial fluid; experimental therapies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.4 | Low |
| Lung | 1.2 | Low |
| Spleen | 3.5 | Medium |
| Lymph Node | 4.8 | Medium |
| Bone Marrow | 2.1 | Low |
| Small Intestine | 1.5 | Low |
| Colon | 1.8 | Low |
| Blood | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 2.3 | Macrophage-like; IL-23 expression upon stimulation |
| Jurkat (T cell) | 0.5 | Low baseline; induced upon activation |
| A549 (lung epithelial) | 0.2 | Minimal expression |
| HeLa (cervical) | 0.1 | Very low |
| MCF7 (breast) | 0.3 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11171806 | SNP (intronic) | ~20% (global) | Associated with increased risk of inflammatory bowel disease (ClinVar). |
| rs2201841 | SNP (intronic) | ~30% (global) | Associated with psoriasis susceptibility (ClinVar). |
| rs7517847 | SNP (intronic) | ~25% (global) | Associated with ankylosing spondylitis (ClinVar). |
| rs11465804 | SNP (intronic) | ~15% (global) | Associated with multiple sclerosis (ClinVar). |
Mutation functional classification
Loss of Function (LOF)
Rare loss-of-function mutations in IL23A are not well documented; complete deficiency may impair Th17 responses, but no clinical phenotype has been reported in humans.
Gain of Function (GOF)
Gain-of-function mutations are not described; overexpression of IL-23 is linked to chronic inflammation, but this is typically due to regulatory dysregulation rather than mutations in the coding region.
Dominant Negative (DN)
No dominant-negative mutations have been reported for IL23A.
View complete mutation data：
Gene Ontology (GO)
| • cytokine activity | • interleukin-23 receptor binding |
| • extracellular space | • immune response |
| • inflammatory response | • positive regulation of T cell proliferation |
| • positive regulation of interferon-gamma production | • positive regulation of interleukin-17 production |
Pathways
• IL-23 signaling pathway
• Th17 cell differentiation
• Cytokine-cytokine receptor interaction
• JAK-STAT signaling pathway
• Inflammatory bowel disease (IBD) pathway
• Rheumatoid arthritis pathway
Protein Summary
The IL23A protein (p19) is a 189-amino acid polypeptide that forms a heterodimer with the p40 subunit (encoded by IL12B) to create the biologically active IL-23 cytokine. The p19 subunit is structurally related to IL-6 and other IL-12 family members. IL-23 binds to the IL-23 receptor complex (IL-23R and IL-12Rβ1), activating JAK2/TYK2 and STAT3 signaling, which promotes Th17 cell maintenance and effector function. The protein is secreted and acts in an autocrine/paracrine manner. Its expression is tightly regulated and induced by microbial stimuli and inflammatory signals.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL23A Knockout HEK293 Cell Line | EDJ-KQ491 | Human | 51561 | Details Get a Quote |
| IL23A Knockout HeLa Cell Line | EDJ-KQ56328 | Human | 51561 | Details Get a Quote |
| IL23A Knockout A-549 Cell Line | EDJ-KQ64816 | Human | 51561 | Details Get a Quote |
| IL23A Knockout HCT 116 Cell Line | EDJ-KQ73261 | Human | 51561 | Details Get a Quote |
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