IL23R

Chr 1

interleukin 23 receptor

Also known as: PSORS7

NCBI Gene: 149233ENSG00000162594UniProt: Q5VWK5

The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor molecule IL12RB1/IL12Rbeta1, and both are required for IL23A signaling. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a ligand-dependent manner. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtInflammatory bowel disease 17
4
Active trials
71
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.61
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.61LOEUF
pLI 0.001
Z-score 3.22
OE 0.37 (0.23–0.61)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.08Z-score
OE missense 0.83 (0.75–0.92)
264 obs / 318.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.23–0.61)
0≤0.351.4
Missense OE?0.83 (0.75–0.92)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 11 / 30.0Missense obs/exp: 264 / 318.4Syn Z: -0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

IL23R · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients