Information on IL23R
Alt. symbols: IL-23R
Approved name: interleukin 23 receptor
Alt. names: interleukin23 receptor | IL23 receptor
Location: 1p31.3: 67138907 - 67259979 (+)
Gene type: protein_coding, 33 transcripts.
Scores: LoFtool: 0.367000 | pLI: 0.00649530 | LOEUF: 0.606
Gene Ontology (GO)
- Molecular function: cytokine receptor activity [GO:0004896]; interleukin-12 receptor binding [GO:0005143]; interleukin-23 binding [GO:0042019]; cytokine binding [GO:0019955]
- Cell component: interleukin-23 receptor complex [GO:0072536]; external side of plasma membrane [GO:0009897]
- Biological process: cytokine-mediated signaling pathway [GO:0019221]
Normal function
The IL23R gene encodes the interleukin 23 (IL-23) receptor. This protein is embedded in the outer membrane of several types of immune system cells, including T cells, natural killer (NK) cells, monocytes, and dendritic cells. At the cell surface, the IL-23 receptor interacts with the cytokine IL-23. When IL-23 binds to its receptor, it triggers a series of chemical signals inside the cell that promote inflammation and help coordinate the immune system's response to foreign pathogens. IL23 is a heterodimeric cytokine consisting of p19 (IL23A) and p40 (IL12B) subunits. The p40 subunit also interacts with p35 (IL12A) to form IL12. IL23, like IL12, bind to IL12RB1, but only IL12 binds to IL12RB2. IL23R does not interact with IL12, but pairs with IL12RB1 to confer IL23 responsiveness on cells expressing both subunits (Parham et al., 2002).
Dysfunction and disease
Single nucleotide polymorphisms in IL23R have been associated, among others, with protection or susceptibility to develop Crohn's disease {Inflammatory bowel disease 17, protection against} [MIM:612261], with decreased risk of developing gastric cancer or with increased protection for the development of psoriasis [MIM:605606]. [Load More]
[Reviewed by Andrés Caballero-Oteyza on ]
Associated conditions
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of IL23R
Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
---|---|---|---|---|---|---|---|---|---|
201 | ENST00000347310.10 | CCDS637 | Select | protein_coding | 11 | Yes | 2858 | NM_144701 |
Published variants
Found 1 variants
Please mind that curation (inclusion of all reported gene variants) 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 IL23R
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.