IL17RA Gene
Interleukin 17 Receptor A
Gene Information Card
| Symbol | IL17RA |
|---|---|
| Full Name | Interleukin 17 Receptor A |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.1 |
| NCBI Gene ID | 23765 ncbi.nlm.nih.gov/gene/23765 |
| Ensembl ID | ENSG00000177663 |
| UniProt ID | Q96F46 |
| OMIM ID | 605461 |
| HGNC ID | 5985 |
| Aliases | CD217, IL17R, IL-17RA, hIL-17R |
Description
IL17RA (Interleukin 17 Receptor A) encodes a type I transmembrane protein that serves as the receptor for interleukin 17A (IL-17A) and IL-17F. It forms a heterodimeric complex with IL17RC to mediate pro-inflammatory signaling via the NF-κB, MAPK, and C/EBP pathways. IL17RA is essential for host defense against fungal and bacterial infections and is implicated in autoimmune and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic Mucocutaneous Candidiasis (CMC) | Loss-of-function mutations in IL17RA impair IL-17 signaling, reducing antifungal immunity and leading to recurrent Candida infections. | ClinVar, OMIM |
| Psoriasis | IL17RA-mediated signaling drives keratinocyte proliferation and inflammation; therapeutic antibodies targeting IL-17A or IL17RA are used. | NCBI Gene, OMIM |
| Ankylosing Spondylitis | IL-17/IL17RA axis contributes to inflammatory spinal disease; IL17RA polymorphisms associated with susceptibility. | OMIM, ClinVar |
| Rheumatoid Arthritis | IL17RA signaling promotes synovial inflammation and joint destruction. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Skin | 8.3 | Medium |
| Spleen | 6.7 | Low |
| Bone Marrow | 5.1 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.2 | High expression |
| A549 (lung epithelial) | 9.8 | Moderate expression |
| HaCaT (keratinocyte) | 7.5 | Moderate expression |
| Jurkat (T cell) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.281C>T (p.Pro94Leu) | Missense | Rare | Loss of function; associated with CMC |
| c.1003C>T (p.Arg335*) | Nonsense | Rare | Truncated protein; loss of function |
| c.1249G>A (p.Gly417Arg) | Missense | Rare | Impaired IL-17 binding |
| c.1550T>C (p.Leu517Pro) | Missense | Rare | Reduced surface expression |
Mutation functional classification
Loss of Function (LOF)
Most IL17RA mutations reported in CMC are loss-of-function, leading to defective IL-17 signaling and impaired antifungal immunity.
Gain of Function (GOF)
No gain-of-function mutations are currently documented in ClinVar or COSMIC for IL17RA.
Dominant Negative (DN)
Some missense mutations (e.g., p.Pro94Leu) may exert dominant-negative effects by disrupting heterodimerization with IL17RC.
View complete mutation data：
Gene Ontology (GO)
| • receptor activity (GO:0004872) | • signal transduction (GO:0007165) |
| • JAK-STAT cascade (GO:0007259) | • NIK/NF-kappaB signaling (GO:0038061) |
| • innate immune response (GO:0045087) | • plasma membrane (GO:0005886) |
Pathways
• IL-17 Signaling Pathway (KEGG hsa04657)
• Cytokine-cytokine receptor interaction (KEGG hsa04060)
• NF-kappa B signaling pathway (KEGG hsa04064)
Protein Summary
IL17RA is a 866-amino acid transmembrane receptor with an extracellular fibronectin type III domain and a cytoplasmic SEFIR domain essential for signal transduction. Upon IL-17A or IL-17F binding, it recruits ACT1 (TRAF3IP2) to activate NF-κB, MAPK, and C/EBP pathways, inducing pro-inflammatory cytokines and antimicrobial peptides. The receptor is widely expressed on epithelial cells, fibroblasts, and immune cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL17RA Knockout HEK293 Cell Line | EDJ-KQ13824 | Human | 23765 | Details Get a Quote |
| IL17RA Knockout A-549 Cell Line | EDJ-KQ43647 | Human | 23765 | Details Get a Quote |
| IL17RA Knockout HCT 116 Cell Line | EDJ-KQ43648 | Human | 23765 | Details Get a Quote |
| IL17RA Knockout HeLa Cell Line | EDJ-KQ43649 | Human | 23765 | Details Get a Quote |
| Il17ra Knockout 4T1 Cell Line | EDJ-KZ296 | Mouse | 16172 | Details Get a Quote |
| IL17RA Knockout MIA PaCa-2 Cell Line | EDJ-KZ297 | Human | 23765 | Details Get a Quote |
| Il17ra Knockout Panc02 Cell Line | EDJ-KZ298 | Mouse | 23765 | Details Get a Quote |
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