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

Gene ID: 8807, updated on 1-Jun-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 PubChem

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
NAD(P)+ nucleosidase activity IEA
Inferred from Electronic Annotation
more info
 
NAD+ nucleotidase, cyclic ADP-ribose generating IEA
Inferred from Electronic Annotation
more info
 
interleukin-18 receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
NP_003844.1
XP_011510389.1
XP_011510390.1
XP_016860662.1
XP_024308965.1
XP_024308966.1
XP_024308967.1
XP_024308968.1
XP_024308969.1

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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 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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