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

Gene ID: 8807, updated on 8-May-2016
Official Symbol
IL18RAPprovided by HGNC
Official Full Name
interleukin 18 receptor accessory proteinprovided by HGNC
Primary source
HGNC:HGNC:5989
See related
Ensembl:ENSG00000115607 HPRD:05147; MIM:604509; Vega:OTTHUMG00000130777
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]
Orthologs
Location:
2q12
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (102418558..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 uncharacterized LOC105373517 Neighboring gene solute carrier family 9 member A2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC120589, MGC120590

Gene Ontology Provided by GOA

Function Evidence Code Pubs
receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
cellular response to cytokine stimulus 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 TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
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

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, OTTHUMP00000161337, ENST00000264260, OTTHUMT00000253291
    Conserved Domains (2) summary
    pfam01582
    Location:410558
    TIR; TIR domain
    cl11960
    Location:160221
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    102418558..102452568
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512087.1XP_011510389.1  

    See identical proteins and their annotated locations for XP_011510389.1

    UniProtKB/Swiss-Prot
    O95256
    Related
    ENSP00000387201, OTTHUMP00000203106, ENST00000409369, OTTHUMT00000329495
    Conserved Domains (2) summary
    pfam01582
    Location:268416
    TIR; TIR domain
    cl11960
    Location:1879
    Ig; Immunoglobulin domain
  2. XM_011512089.1XP_011510391.1  

    Conserved Domains (1) summary
    cl11960
    Location:160221
    Ig; Immunoglobulin domain
  3. XM_011512088.1XP_011510390.1  

    See identical proteins and their annotated locations for XP_011510390.1

    UniProtKB/Swiss-Prot
    O95256
    Conserved Domains (2) summary
    pfam01582
    Location:268416
    TIR; TIR domain
    cl11960
    Location:1879
    Ig; Immunoglobulin domain

RNA

  1. XR_923052.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    103039551..103073326
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)