IL23R interleukin 23 receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: IL23Rprovided by HGNC
Official Full Name: interleukin 23 receptorprovided by HGNC
Primary source: HGNC:HGNC:19100
See related: Ensembl:ENSG00000162594 MIM:607562; AllianceGenome:HGNC:19100
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PSORS7
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 1p31.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (67138637..67265903)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (67016149..67143448)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (67632137..67725662)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Case-control study of IL23R rs76418789 polymorphism, smoking, and ulcerative colitis in Japan.
Title: Case-control study of IL23R rs76418789 polymorphism, smoking, and ulcerative colitis in Japan.
IL23R mutations associated with decreased risk of psoriasis lead to the differential expression of genes implicated in the disease.
Title: IL23R mutations associated with decreased risk of psoriasis lead to the differential expression of genes implicated in the disease.
Association of IL-23R and IL-10 variations with Behcet disease: a genetic analysis study.
Title: Association of IL-23R and IL-10 variations with Behçet disease: a genetic analysis study.
Interleukin gene polymorphisms and alopecia areata: A systematic review and meta-analysis.
Title: Interleukin gene polymorphisms and alopecia areata: A systematic review and meta-analysis.
Gene polymorphisms of an interleukin-23 receptor associated with susceptibility to rheumatoid arthritis in the Western Chinese Han population.
Title: Gene polymorphisms of an interleukin-23 receptor associated with susceptibility to rheumatoid arthritis in the Western Chinese Han population.
Interleukin-23 receptor signaling impairs the stability and function of colonic regulatory T cells.
Title: Interleukin-23 receptor signaling impairs the stability and function of colonic regulatory T cells.
Association of IL-17A rs2275913, IL-23R rs11209026 polymorphisms and serum level of IL-17A with rheumatoid arthritis in Egyptian patients.
Title: Association of IL-17A rs2275913, IL-23R rs11209026 polymorphisms and serum level of IL-17A with rheumatoid arthritis in Egyptian patients.
Association between a single nucleotide polymorphism of the IL23R gene and tuberculosis in a Chinese Han population: a case-control study.
Title: Association between a single nucleotide polymorphism of the IL23R gene and tuberculosis in a Chinese Han population: a case‒control study.
Effect of IL-23 Receptor Gene Polymorphism (Rs1884444) on the Prevalence of Oral Fungal Infection in Patients with Type 2 Diabetes Mellitus: A Case-Control Study in Iraqi Patients.
Title: Effect of IL-23 Receptor Gene Polymorphism (Rs1884444) on the Prevalence of Oral Fungal Infection in Patients with Type 2 Diabetes Mellitus: A Case-Control Study in Iraqi Patients.
Suggestive evidence of genetic association of IL23R polymorphisms with chronic obstructive pulmonary disease risk in the Chinese population.
Title: Suggestive evidence of genetic association of IL23R polymorphisms with chronic obstructive pulmonary disease risk in the Chinese population.

Submit: New GeneRIF Correction See all GeneRIFs (338)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Inflammatory bowel disease 17 MedGen: C2677091 OMIM: 612261 GeneReviews: Not available	Compare labs
Psoriasis 7, susceptibility to MedGen: C1854124 OMIM: 605606 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Beh&#x000e7;et's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Beh&#x000c3;&#x000a7;et's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. EBI GWAS Catalog EBI GWAS CatalogPubMed
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif upregulates the expression of interleukin 23 receptor (IL23R) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine binding	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine receptor activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to interleukin-12 receptor binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to interleukin-12 receptor binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to interleukin-23 binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to interleukin-23 binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to interleukin-23 receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide hormone binding	IBA Inferred from Biological aspect of Ancestor more info
enables prolactin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor signaling pathway via JAK-STAT	IC Inferred by Curator more info	PubMed
involved_in cell surface receptor signaling pathway via STAT	TAS Traceable Author Statement more info	PubMed
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to Gram-negative bacterium	IC Inferred by Curator more info	PubMed
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in interleukin-23-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of interleukin-10 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of NK T cell activation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of T cell mediated cytotoxicity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T cell proliferation	IC Inferred by Curator more info	PubMed
involved_in positive regulation of T-helper 1 type immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T-helper 1 type immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T-helper 17 cell lineage commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T-helper 17 type immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of activated T cell proliferation	IC Inferred by Curator more info	PubMed
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of defense response to virus by host	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of defense response to virus by host	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of granulocyte macrophage colony-stimulating factor production	IC Inferred by Curator more info	PubMed
involved_in positive regulation of interleukin-12 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-17 production	IC Inferred by Curator more info	PubMed
involved_in positive regulation of memory T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of natural killer cell proliferation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of osteoclast differentiation	IC Inferred by Curator more info	PubMed
involved_in positive regulation of type II interferon production	IC Inferred by Curator more info	PubMed
involved_in positive regulation of type II interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type II interferon production	TAS Traceable Author Statement more info	PubMed
involved_in response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in response to type II interferon	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of interleukin-23 receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of interleukin-23 receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: interleukin-23 receptor

Names: IL-23 receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011498.1 RefSeqGene

Range

4969..98494

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_144701.3 → NP_653302.2 interleukin-23 receptor precursor

See identical proteins and their annotated locations for NP_653302.2

Status: REVIEWED

Source sequence(s)

AL109843, AL389925

Consensus CDS

CCDS637.1

UniProtKB/Swiss-Prot

C9JGX4, Q4VGP1, Q4VGP2, Q4VGP3, Q4VGP4, Q4VGP5, Q4VGP6, Q5VWK5, Q5VWK7, Q8IW84, Q8NFQ9, Q96AS1

UniProtKB/TrEMBL

A0A8V8TKS9

Related

ENSP00000321345.5, ENST00000347310.10

Conserved Domains (1) summary

cl21522
Location:128 → 182

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

67138637..67265903

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011540790.4 → XP_011539092.1 interleukin-23 receptor isoform X1

See identical proteins and their annotated locations for XP_011539092.1

UniProtKB/Swiss-Prot

C9JGX4, Q4VGP1, Q4VGP2, Q4VGP3, Q4VGP4, Q4VGP5, Q4VGP6, Q5VWK5, Q5VWK7, Q8IW84, Q8NFQ9, Q96AS1

UniProtKB/TrEMBL

A0A8V8TKS9

Conserved Domains (1) summary

cl21522
Location:128 → 182

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
XM_011540791.4 → XP_011539093.1 interleukin-23 receptor isoform X1

See identical proteins and their annotated locations for XP_011539093.1

UniProtKB/Swiss-Prot

C9JGX4, Q4VGP1, Q4VGP2, Q4VGP3, Q4VGP4, Q4VGP5, Q4VGP6, Q5VWK5, Q5VWK7, Q8IW84, Q8NFQ9, Q96AS1

UniProtKB/TrEMBL

A0A8V8TKS9

Related

ENSP00000513153.1, ENST00000697164.1

Conserved Domains (1) summary

cl21522
Location:128 → 182

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
XM_047447227.1 → XP_047303183.1 interleukin-23 receptor isoform X2

Related

ENSP00000513152.1, ENST00000697163.1