Information on IL17RA
Basic details
Alt. symbols: IL17R | hIL-17R | IL-17RA | CDw217 | CD217
Approved name: interleukin 17 receptor A
Alt. names: interleukin 17 receptor
Location: 22q11.1: 17084954 - 17115693 (+)
Gene type: protein_coding, 8 transcripts.
Scores: LoFtool: 0.624000 | pLI: 0.11941793 | LOEUF: 0.632
Normal function
Dysfunction and disease
Immunodeficiency 51 [MIM:613953] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
CANDF5 |
IL-17RA deficiency | AR |
Loss of Function | 605658 |
3 (3 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not been completed yet. It is currently ongoing.
Transcripts of IL17RA
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000319363.11 | 1 | CCDS13739 | Select | protein_coding | 13 | Yes | 8566 | NM_014339 |
| 204 | ENST00000612619.2 | CCDS77645 | protein_coding | 12 | No | 8506 | NM_001289905 |
Published variants
Found 1 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| Q284* |
EX9 | 942 | c.850C>T | p.Gln284Ter | stop_gained | Pathogenic | 1 |
Please mind that full curation (inclusion of all published variants) of this gene has not been completed yet. It is currently ongoing.
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 IL17RA
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 575 |
2017 | Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Ca... | Curr. Rheumatol. Rep. | 28983775 |
1 |
| 1310 |
2016 | IL-17 receptor A and adenosine deaminase 2 deficiency in sib... | JACI | 26607704 |
1 |
| 1435 |
2011 | Chronic mucocutaneous candidiasis in humans with inborn erro... | Science | 21350122 |
1 |