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    IL23R interleukin 23 receptor [ Homo sapiens (human) ]

    Gene ID: 149233, updated on 27-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IL23R in Genome Data Viewer
    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_000001.11Genomic Context describing neighboring genes Neighboring gene MIER1 transcriptional regulator Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 975 Neighboring gene MPRA-validated peak274 silencer Neighboring gene solute carrier family 35 member D1 Neighboring gene MPRA-validated peak275 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 976 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:67486227-67487025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 978 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:67562817-67563435 Neighboring gene small nucleolar RNA SNORA31 Neighboring gene chromosome 1 open reading frame 141 Neighboring gene NANOG hESC enhancer GRCh37_chr1:67602886-67603396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1169 Neighboring gene RNA, U6 small nuclear 586, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1172 Neighboring gene RNA, U4atac small nuclear 4, pseudogene Neighboring gene DNAJB6 pseudogene 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    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
    A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
    EBI GWAS Catalog
    A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
    EBI GWAS Catalog
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog
    Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
    EBI GWAS Catalog
    Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.
    EBI GWAS Catalog
    Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.
    EBI GWAS Catalog
    Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
    EBI GWAS Catalog
    Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's disease susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.
    EBI GWAS Catalog
    Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.
    EBI GWAS Catalog
    Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease.
    EBI GWAS Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    EBI GWAS Catalog
    Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.
    EBI GWAS Catalog
    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
    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
    Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy.
    EBI GWAS Catalog
    Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
    EBI GWAS Catalog
    Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.
    EBI GWAS Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog
    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
    Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    interleukin-23 receptor
    Names
    IL-23 receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_011498.1 RefSeqGene

      Range
      4969..98494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_144701.3NP_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:128182
      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

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      67138637..67265903
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540790.4XP_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:128182
      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 ...
    2. XM_011540791.4XP_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:128182
      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 ...
    3. XM_047447227.1XP_047303183.1  interleukin-23 receptor isoform X2

      Related
      ENSP00000513152.1, ENST00000697163.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      67016149..67143448
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334638.1XP_054190613.1  interleukin-23 receptor isoform X1

      UniProtKB/Swiss-Prot
      C9JGX4, Q4VGP1, Q4VGP2, Q4VGP3, Q4VGP4, Q4VGP5, Q4VGP6, Q5VWK5, Q5VWK7, Q8IW84, Q8NFQ9, Q96AS1
    2. XM_054334639.1XP_054190614.1  interleukin-23 receptor isoform X1

      UniProtKB/Swiss-Prot
      C9JGX4, Q4VGP1, Q4VGP2, Q4VGP3, Q4VGP4, Q4VGP5, Q4VGP6, Q5VWK5, Q5VWK7, Q8IW84, Q8NFQ9, Q96AS1
    3. XM_054334640.1XP_054190615.1  interleukin-23 receptor isoform X2