Information on IL17RC
Basic details
Alt. symbols: IL17-RL
Approved name: interleukin 17 receptor C
Alt. names: interleukin17 receptor C | IL17 receptor C | IL17RL | IL17F receptor | IL17Rhom | interleukin17 receptor homolog | interleukin17 receptorlike protein | zcytoR14
Location: 3p25.3: 9917074 - 9933630 (+)
Gene type: protein_coding, 47 transcripts.
Scores: LoFtool: 0.931000 | pLI: 0.00000000 | LOEUF: 0.867
Normal function
IL17RC is involved in host defence against fungus of the genus Candida. After recognition of Candida, the immune system generates Th17 cells, which secrete interleukin-17 (IL-17) cytokines via the IL-17 pathway. The IL-17 pathway creates inflammation, sending other cytokines and leukocytes to fight infection and promote tissue repair. In addition, the IL-17 pathway promotes the production of certain antimicrobial peptides that control growth of Candida on the surface of mucous membranes. Together with the IL17RA protein, IL17RC forms one of several receptors for IL-17 cytokines. Certain IL-17 cytokines attach to receptors containing the IL17RC and IL17RA proteins, thus triggering the IL-17 pathway.
Dysfunction and disease
Biallelic mutations in this gene that result in loss of IL-17RC expression on the cell surface have been shown in patients with autosomal recessive chronic mucocutaneous candidiasis disease (CMCD). This subtype of CMCD is also known as familial candidiasis 9 [MIM#616445]. To date, only two studies reporting 4 unrelated patients have been published (PMID:25918342, 38129603). The first 3 index patients (reported in 2015) carried homozygous nonsense mutations in the gene: p.Gln138*, p.Arg376*, p.Gl n378*. The last reported patient (2023) carried a homozygous exon-13 tandem duplication leading to the formation of a frameshift and a premature stop codon. In contrast to what is observed in IL-17RA- or ACT1-deficient patients tested, the response to IL-17E (IL-25) is maintained in IL-17RC-deficient patients. [Load More]
[Reviewed by Andrés Caballero-Oteyza on 2023-12-23 23:08:15]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
CANDF9 |
Candiasis, familial, 9 | AR |
616445 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of IL17RC
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 205 | ENST00000413608.2 | CCDS56240 | protein_coding | 18 | No | 2147 | NM_001203263 | ||
| 210 | ENST00000438091.6 | protein_coding | No | 1208 | NM_001367279 | ||||
| 206 | ENST00000416074.6 | CCDS74898 | protein_coding | 17 | No | 2342 | NM_001203264 | ||
| 203 | ENST00000403601.8 | 1 | CCDS46746 | Select | protein_coding | 19 | Yes | 2409 | NM_153460 |
| 201 | ENST00000295981.7 | CCDS2590 | protein_coding | 19 | No | 2621 | NM_153461 | ||
| 202 | ENST00000383812.9 | CCDS2591 | protein_coding | 18 | No | 2388 | NM_032732 | ||
| 215 | ENST00000455057.5 | CCDS56241 | protein_coding | 17 | No | 2244 | NM_001203265 | ||
| 229 | ENST00000696816.1 | protein_coding | No | NM_001367280 | |||||
| 237 | ENST00000696824.1 | protein_coding | No | NM_001367278 | |||||
| 239 | ENST00000696826.1 | protein_coding | No | NM_001410711 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in IL17RC
| ID | Year | Title | Journal | PMID | Variants |
|---|