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

HGNC: 19100

NCBI: 149233, RefSeq: NG_011498.1

Ensembl: ENSG00000162594.17

LRG_ | Status: none

OMIM: 607562

Expression | ProteinAtlas

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

Acronym Condition's_name MOI Mode_of_actionwww icon OMIM_ID No.cases
MSMD4 Mendelian Susceptibility to mycobacterial disease 4 ARdict. icon Loss of Function - 0 (0 fams)

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

Var.name ⓘ Exon/Intron cDNA_pos. CDS_change Prot.change Var.type Var.class. Patients
V362I EX9 1201 c.1084G>A p.Val362Ile missense_variant Likely Pathogenic 0

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.

ID Year Title Journal PMID Variants
163 2009 Interleukin-23 receptor (IL-23R) gene polymorphisms in acqui... Ann. Hematol. 19165485 1
164 2011 Resequencing of positional candidates identifies low frequen... Nat. Genet. 21151126 1
165 2013 Deep Resequencing of GWAS Loci Identifies Rare Variants in C... Plos Gen. 24068945 1
166 2016 IL23R (Interleukin 23 Receptor) Variants Protective against ... J. Biol. Chem. 26887945 1

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