IL17RD Gene (Interleukin 17 Receptor D)
Key regulator of IL-17 signaling and embryonic development
Gene Information Card
| Symbol | IL17RD |
|---|---|
| Full Name | Interleukin 17 Receptor D |
| Gene Type | Protein coding |
| Chromosomal Location | 3p14.3 |
| NCBI Gene ID | 54756 ncbi.nlm.nih.gov/gene/54756 |
| Ensembl ID | ENSG00000144730 |
| UniProt ID | Q8NFM7 |
| OMIM ID | 606807 |
| HGNC ID | 17625 |
| Aliases | SEF, IL-17RD, IL17Rhom, hSEF |
Description
IL17RD (Interleukin 17 Receptor D) encodes a member of the interleukin-17 receptor (IL-17R) family. The protein acts as a negative regulator of fibroblast growth factor (FGF) signaling and modulates IL-17-mediated inflammatory responses. It is involved in embryonic development, particularly in the formation of the nervous system and limbs. Mutations in this gene are associated with hypogonadotropic hypogonadism and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypogonadotropic Hypogonadism | Loss-of-function mutations impair FGF signaling, disrupting GnRH neuron development | PMID: 23643382 |
| Breast Cancer | Altered IL17RD expression promotes tumor growth via IL-17 signaling dysregulation | PMID: 25944712 |
| Colorectal Cancer | IL17RD overexpression correlates with poor prognosis and enhanced IL-17 signaling | PMID: 27562873 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.1 | Low |
| Testis | 15.2 | Medium |
| Thyroid | 10.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Embryonic kidney cells |
| MCF7 | 7.2 | Breast cancer cell line |
| HCT 116 | 11.5 | Colorectal carcinoma cells |
| SH-SY5Y | 14.1 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338*) | Nonsense | Rare | Loss of function |
| c.1456G>A (p.Gly486Arg) | Missense | Rare | Impaired FGF signaling |
| c.1789_1791del (p.Phe597del) | Deletion | Rare | Dominant-negative effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, reducing IL-17RD activity.
Gain of Function (GOF)
Not well documented; some missense variants may enhance IL-17 signaling.
Dominant Negative (DN)
Deletion mutations (e.g., p.Phe597del) that interfere with wild-type receptor function.
View complete mutation data：
Gene Ontology (GO)
| • interleukin-17 receptor activity | • fibroblast growth factor receptor binding |
| • negative regulation of signal transduction | • inflammatory response |
| • embryonic development |
Pathways
• IL-17 signaling pathway
• FGF signaling pathway
• MAPK signaling cascade
Protein Summary
IL17RD is a transmembrane receptor that belongs to the IL-17 receptor family. It contains an extracellular domain for ligand binding and an intracellular SEFIR domain for signal transduction. The protein negatively regulates FGF signaling by interacting with FGFR and inhibiting downstream MAPK activation. It also modulates IL-17A-mediated inflammatory responses. Expression is highest in brain and testis, with lower levels in lung and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL17RD & TNFR2 Overexpression U2OS Stable Cell Line | EDJ-GQ80 | Human | 132014 & 7133 | Details Get a Quote |
| IL17RD Knockout HEK293 Cell Line | EDJ-KQ12032 | Human | 54756 | Details Get a Quote |
| IL17RD Knockout A-549 Cell Line | EDJ-KQ39388 | Human | 54756 | Details Get a Quote |
| IL17RD Knockout HCT 116 Cell Line | EDJ-KQ40647 | Human | 54756 | Details Get a Quote |
| IL17RD Knockout HeLa Cell Line | EDJ-KQ56468 | Human | 54756 | Details Get a Quote |
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