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    IL18RAP interleukin 18 receptor accessory protein [ Homo sapiens (human) ]

    Gene ID: 8807, updated on 8-Dec-2018

    Summary

    Official Symbol
    IL18RAPprovided by HGNC
    Official Full Name
    interleukin 18 receptor accessory proteinprovided by HGNC
    Primary source
    HGNC:HGNC:5989
    See related
    Ensembl:ENSG00000115607 MIM:604509
    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
    ACPL; CD218b; IL-1R7; IL18RB; CDw218b; IL-1R-7; IL-18RAcP; IL-1RAcPL; IL-18Rbeta; IL-18R-beta
    Summary
    The protein encoded by this gene is an accessory subunit of the heterodimeric receptor for interleukin 18 (IL18), a proinflammatory cytokine involved in inducing cell-mediated immunity. This protein enhances the IL18-binding activity of the IL18 receptor and plays a role in signaling by IL18. Mutations in this gene are associated with Crohn's disease and inflammatory bowel disease, and susceptibility to celiac disease and leprosy. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]
    Expression
    Biased expression in bone marrow (RPKM 26.2), appendix (RPKM 5.0) and 4 other tissues See more
    Orthologs

    Genomic context

    See IL18RAP in Genome Data Viewer
    Location:
    2q12.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (102418550..102452568)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (103035254..103069025)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene interleukin 18 receptor 1 Neighboring gene short chain dehydrogenase/reductase family 42E, member 1 pseudogene 5 Neighboring gene microRNA 4772 Neighboring gene solute carrier family 9 member A4 Neighboring gene solute carrier family 9 member A2

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.
    NHGRI GWA Catalog
    Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
    NHGRI GWA Catalog
    Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
    NHGRI GWA Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
    NHGRI GWA Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    NHGRI GWA Catalog
    Newly identified genetic risk variants for celiac disease related to the immune response.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC120589, MGC120590

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    interleukin-18 receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    T-helper 1 cell cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    interferon-gamma production IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-18-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    interleukin-18-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    interleukin-6 production IEA
    Inferred from Electronic Annotation
    more info
     
    neutrophil activation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of natural killer cell mediated cytotoxicity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    interleukin-18 receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    interleukin-18 receptor accessory protein
    Names
    CD218 antigen-like family member B
    IL-18 receptor accessory protein
    IL-18 receptor beta
    cluster of differentiation w218b
    interleukin-1 receptor 7
    interleukin-18 receptor beta

    NCBI Reference Sequences (RefSeq)

    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_011481.1 RefSeqGene

      Range
      4997..38772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003853.3NP_003844.1  interleukin-18 receptor accessory protein precursor

      See identical proteins and their annotated locations for NP_003844.1

      Status: REVIEWED

      Source sequence(s)
      AC007248, AC007278, AF077346, DN996214
      Consensus CDS
      CCDS2061.1
      UniProtKB/Swiss-Prot
      O95256
      Related
      ENSP00000264260.2, ENST00000264260.6
      Conserved Domains (2) summary
      pfam01582
      Location:419559
      TIR; TIR domain
      cl11960
      Location:160221
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      102418550..102452568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453197.1XP_024308965.1  interleukin-18 receptor accessory protein isoform X1

      Conserved Domains (2) summary
      pfam01582
      Location:419559
      TIR; TIR domain
      cl11960
      Location:160221
      Ig; Immunoglobulin domain
    2. XM_024453199.1XP_024308967.1  interleukin-18 receptor accessory protein isoform X1

      Conserved Domains (2) summary
      pfam01582
      Location:419559
      TIR; TIR domain
      cl11960
      Location:160221
      Ig; Immunoglobulin domain
    3. XM_024453198.1XP_024308966.1  interleukin-18 receptor accessory protein isoform X1

      Conserved Domains (2) summary
      pfam01582
      Location:419559
      TIR; TIR domain
      cl11960
      Location:160221
      Ig; Immunoglobulin domain
    4. XM_024453201.1XP_024308969.1  interleukin-18 receptor accessory protein isoform X1

      Conserved Domains (2) summary
      pfam01582
      Location:419559
      TIR; TIR domain
      cl11960
      Location:160221
      Ig; Immunoglobulin domain
    5. XM_011512087.2XP_011510389.1  interleukin-18 receptor accessory protein isoform X2

      See identical proteins and their annotated locations for XP_011510389.1

      UniProtKB/Swiss-Prot
      O95256
      Related
      ENSP00000387201.1, ENST00000409369.1
      Conserved Domains (2) summary
      pfam01582
      Location:277417
      TIR; TIR domain
      cl11960
      Location:1879
      Ig; Immunoglobulin domain
    6. XM_024453200.1XP_024308968.1  interleukin-18 receptor accessory protein isoform X1

      Conserved Domains (2) summary
      pfam01582
      Location:419559
      TIR; TIR domain
      cl11960
      Location:160221
      Ig; Immunoglobulin domain
    7. XM_011512088.2XP_011510390.1  interleukin-18 receptor accessory protein isoform X2

      See identical proteins and their annotated locations for XP_011510390.1

      UniProtKB/Swiss-Prot
      O95256
      Conserved Domains (2) summary
      pfam01582
      Location:277417
      TIR; TIR domain
      cl11960
      Location:1879
      Ig; Immunoglobulin domain
    8. XM_017005173.1XP_016860662.1  interleukin-18 receptor accessory protein isoform X3

    RNA

    1. XR_001739011.2 RNA Sequence

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