IL17REL Gene
Interleukin 17 Receptor E Like
Gene Information Card
| Symbol | IL17REL |
|---|---|
| Full Name | Interleukin 17 Receptor E Like |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 400935 ncbi.nlm.nih.gov/gene/400935 |
| Ensembl ID | ENSG00000188153 |
| UniProt ID | Q6ZVE9 |
| OMIM ID | 616452 |
| HGNC ID | 34403 |
| Aliases | IL-17REL, IL17RE-like, FLJ45273 |
Description
IL17REL (Interleukin 17 Receptor E Like) is a protein-coding gene located on chromosome 22q11.21. It encodes a member of the interleukin-17 receptor (IL-17R) family. The protein is predicted to be a transmembrane receptor involved in immune signaling, though its specific ligand and function remain under investigation. Expression data suggest roles in mucosal immunity and epithelial barrier function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory bowel disease | Potential involvement in IL-17 signaling dysregulation | Limited; inferred from family member IL17RE |
| Psoriasis | Possible role in IL-17-mediated inflammation | Indirect; based on pathway homology |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.8 | Low |
| Lung | 1.2 | Low |
| Small intestine | 2.5 | Medium |
| Colon | 3.1 | Medium |
| Spleen | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 2.0 | Moderate expression |
| Caco-2 (intestinal epithelial) | 3.5 | Higher expression |
| THP-1 (monocytes) | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional impact |
| c.1024G>A (p.Val342Met) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No confirmed dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • transmembrane signaling receptor activity (GO:0004888) | • integral component of membrane (GO:0016021) |
| • signal transduction (GO:0007165) | • immune response (GO:0006955) |
Pathways
• IL-17 signaling pathway (KEGG hsa04657)
• Cytokine-cytokine receptor interaction (KEGG hsa04060)
Protein Summary
IL17REL is a transmembrane protein belonging to the IL-17 receptor family. It contains a fibronectin type III domain and a cytoplasmic SEFIR domain characteristic of IL-17 receptors. The protein is predicted to form heterodimeric complexes with other IL-17 receptors to mediate downstream signaling, including activation of NF-κB and MAPK pathways. Its expression is enriched in epithelial tissues, suggesting a role in barrier immunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL17REL Knockout HEK293 Cell Line | EDJ-KQ11600 | Human | 400935 | Details Get a Quote |
| IL17REL Knockout HeLa Cell Line | EDJ-KQ60281 | Human | 400935 | Details Get a Quote |
| IL17REL Knockout A-549 Cell Line | EDJ-KQ68743 | Human | 400935 | Details Get a Quote |
| IL17REL Knockout HCT 116 Cell Line | EDJ-KQ77110 | Human | 400935 | Details Get a Quote |
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