Gene
IL23R
interleukin 23 receptor
- HGNC 19100↗(opens in a new tab)
- Ensembl gene ENSG00000162594↗(opens in a new tab)
- NCBI Gene 149233↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p31.3
- Coordinates
- Chromosome 1: 67,166,454–67,259,979 (GRCh38)
- Exons
- 11 exons across 93.5 kb
- Protein
- 629 amino acids
- Also known as
- IL-23R
- MANE Select transcript
- ENST00000347310.10NM_144701.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Mendelian Susceptibility to Mycobacterial Disease (MSMD)
- Mendelian susceptibility to mycobacterial disease
Inherited defects in the IL-12/interferon-gamma pathway, caused by genes such as IL12RB1, IL12B, IFNGR1, IFNGR2, STAT1, IRF8, ISG15 and RORC.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Affected people and at-risk relatives should avoid BCG and other live vaccines, infections need prolonged treatment, and some forms respond to interferon-gamma.
Broader groupings
Other Inborn Errors of Immunity
- Immunodeficiency Disease
One of 170 genes linked to it
Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD
How IL23R is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.9 kb of the gene's 93.5 kb; 1,890 of those bases code for the protein.
Genes linked to the same conditions
- IRF8interferon regulatory factor 8Shares 2 conditions
- STAT1signal transducer and activator of transcription 1Shares 2 conditions
- ADAadenosine deaminaseShares 1 condition
- AICDAactivation induced cytidine deaminaseShares 1 condition
- AK2adenylate kinase 2Shares 1 condition
- ARPC1Bactin related protein 2/3 complex subunit 1BShares 1 condition
- ARPC5actin related protein 2/3 complex subunit 5Shares 1 condition
- ATMATM serine/threonine kinaseShares 1 condition
- ATP6AP1ATPase H+ transporting accessory protein 1Shares 1 condition
- B2Mbeta-2-microglobulinShares 1 condition
- BACH2BACH transcriptional regulator 2Shares 1 condition
- BCL10BCL10 immune signaling adaptorShares 1 condition
Traits linked to IL23R
The Human Phenotype Ontology lists these as features of the rare conditions IL23R can cause. Each trait's page lists the other genes linked to it.
Abnormality of the immune system
- Meningitis
- Acne
- Erythema nodosum
- Immunologic hypersensitivity
- Increased inflammatory response
- Pimple
- Brain inflammation
- Muscle inflammation
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). IL23R gene: interleukin 23 receptor. Retrieved 16 October 2026, from https://dantelabs.com/genes/il23r
Dante Labs. IL23R gene: interleukin 23 receptor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/il23r
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