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

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; AllianceGenome:HGNC:5989
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: mouse all
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Genomic context

Location:: 2q12.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (102418621..102452565)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (102877486..102911541)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (103035081..103069025)

Chromosome 2 - NC_000002.12 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
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?

Prognostic and immunological roles of IL18RAP in human cancers.
Title: Prognostic and immunological roles of IL18RAP in human cancers.
Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS.
Title: Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS.
IL18-family Genes Polymorphism Is Associated with the Risk of Myocardial Infarction and IL18 Concentration in Patients with Coronary Artery Disease.
Title: IL18-family Genes Polymorphism Is Associated with the Risk of Myocardial Infarction and IL18 Concentration in Patients with Coronary Artery Disease.
Integrating disease and drug-related phenotypes for improved identification of pharmacogenomic variants.
Title: Integrating disease and drug-related phenotypes for improved identification of pharmacogenomic variants.
A novel anti-human IL-1R7 antibody reduces IL-18-mediated inflammatory signaling.
Title: A novel anti-human IL-1R7 antibody reduces IL-18-mediated inflammatory signaling.
Investigation of genetically regulated gene expression and response to treatment in rheumatoid arthritis highlights an association between IL18RAP expression and treatment response.
Title: Investigation of genetically regulated gene expression and response to treatment in rheumatoid arthritis highlights an association between IL18RAP expression and treatment response.
IL18RAP polymorphisms and its plasma levels in patients with Lumbar disc degeneration.
Title: IL18RAP polymorphisms and its plasma levels in patients with Lumbar disc degeneration.
There was no association between IL18RAP gene polymorphisms (rs1420106 and rs917997) with the risk of spondylotic myelopathy in Indian population.
Title: Role of APOE and IL18RAP gene polymorphisms in cervical spondylotic myelopathy in Indian population.
Polymorphisms in IL18RAP influence susceptibility to obesity. We demonstrated that the A allele in rs7559479 increases MIR136 binding, which regulates IL-18 system activity.
Title: Are IL18RAP gene polymorphisms associated with body mass regulation? A cross-sectional study.
An association of IL18RAP single nucleotide polymorphism rs2058660 with Behcet's disease, but not Vogt-Koyanagi-Harada disease in Han Chinese.
Title: Genetic analysis of innate immunity in Behcet's disease identifies an association with IL-37 and IL-18RAP.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling. 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
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. 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
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple common variants for celiac disease influencing immune gene expression. EBI GWAS Catalog EBI GWAS CatalogPubMed
Newly identified genetic risk variants for celiac disease related to the immune response. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481793

NoName (e-PCR)
- UniSTS:483475

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD+ nucleosidase activity	IEA Inferred from Electronic Annotation more info
enables NAD+ nucleotidase, cyclic ADP-ribose generating	IEA Inferred from Electronic Annotation more info
enables coreceptor activity	IDA Inferred from Direct Assay more info	PubMed
enables interleukin-18 receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables interleukin-18 receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adaptive immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in interleukin-18-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in interleukin-18-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in neutrophil activation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of natural killer cell mediated cytotoxicity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
part_of interleukin-18 receptor complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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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_001380415.1

EC 3.2.2.6

NP_001380416.1

EC 3.2.2.6

NP_001380417.1

EC 3.2.2.6

NP_001380418.1

EC 3.2.2.6

NP_003844.1

EC 3.2.2.6

XP_011510390.1

EC 3.2.2.6

XP_024308965.1

EC 3.2.2.6

XP_024308966.1

EC 3.2.2.6

XP_024308967.1

EC 3.2.2.6

XP_024308969.1

EC 3.2.2.6

XP_047302118.1

EC 3.2.2.6

XP_047302119.1

EC 3.2.2.6

XP_054200315.1

EC 3.2.2.6

XP_054200316.1

EC 3.2.2.6

XP_054200317.1

EC 3.2.2.6

XP_054200318.1

EC 3.2.2.6

XP_054200319.1

EC 3.2.2.6

XP_054200320.1

EC 3.2.2.6

XP_054200321.1

EC 3.2.2.6

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_011481.1 RefSeqGene

Range

9367..38772

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001393486.1 → NP_001380415.1 interleukin-18 receptor accessory protein isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC007248, AC007278

Consensus CDS

CCDS2061.1

UniProtKB/Swiss-Prot

B2RPJ3, O95256, Q2QDE5, Q3KPE7, Q3KPE8, Q53TT4, Q53TU5

Conserved Domains (4) summary

pfam01582
Location:419 → 559

TIR; TIR domain

pfam18452
Location:100 → 155

Ig_6; Immunoglobulin domain

cd00096
Location:251 → 254

Ig; Ig strand A [structural motif]

cl11960
Location:251 → 354

Ig; Immunoglobulin domain
NM_001393487.1 → NP_001380416.1 interleukin-18 receptor accessory protein isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC007248, AC007278

Consensus CDS

CCDS2061.1

UniProtKB/Swiss-Prot

B2RPJ3, O95256, Q2QDE5, Q3KPE7, Q3KPE8, Q53TT4, Q53TU5

Related

ENSP00000510345.1, ENST00000687160.1

Conserved Domains (4) summary

pfam01582
Location:419 → 559

TIR; TIR domain

pfam18452
Location:100 → 155

Ig_6; Immunoglobulin domain

cd00096
Location:251 → 254

Ig; Ig strand A [structural motif]

cl11960
Location:251 → 354

Ig; Immunoglobulin domain
NM_001393488.1 → NP_001380417.1 interleukin-18 receptor accessory protein isoform 2

Status: REVIEWED

Source sequence(s)

AC007248, AC007278

Consensus CDS

CCDS92824.1

Conserved Domains (3) summary

pfam01582
Location:277 → 417

TIR; TIR domain

cd00096
Location:109 → 112

Ig; Ig strand A [structural motif]

cl11960
Location:109 → 212

Ig; Immunoglobulin domain
NM_001393489.1 → NP_001380418.1 interleukin-18 receptor accessory protein isoform 2

Status: REVIEWED

Source sequence(s)

AC007248, AC007278

Consensus CDS

CCDS92824.1

Related

ENSP00000387201.1, ENST00000409369.1

Conserved Domains (3) summary

pfam01582
Location:277 → 417

TIR; TIR domain

cd00096
Location:109 → 112

Ig; Ig strand A [structural motif]

cl11960
Location:109 → 212

Ig; Immunoglobulin domain
NM_003853.4 → NP_003844.1 interleukin-18 receptor accessory protein isoform 1 precursor

See identical proteins and their annotated locations for NP_003844.1

Status: REVIEWED

Source sequence(s)

AC007248, AC007278

Consensus CDS

CCDS2061.1

UniProtKB/Swiss-Prot

B2RPJ3, O95256, Q2QDE5, Q3KPE7, Q3KPE8, Q53TT4, Q53TU5

Related

ENSP00000264260.2, ENST00000264260.6

Conserved Domains (4) summary

pfam01582
Location:419 → 559

TIR; TIR domain

pfam18452
Location:100 → 155

Ig_6; Immunoglobulin domain

cd00096
Location:251 → 254

Ig; Ig strand A [structural motif]

cl11960
Location:251 → 354

Ig; Immunoglobulin domain

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_000002.12 Reference GRCh38.p14 Primary Assembly

Range

102418621..102452565

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024453197.2 → XP_024308965.1 interleukin-18 receptor accessory protein isoform X1

UniProtKB/Swiss-Prot

B2RPJ3, O95256, Q2QDE5, Q3KPE7, Q3KPE8, Q53TT4, Q53TU5

Conserved Domains (4) summary

pfam01582
Location:419 → 559

TIR; TIR domain

pfam18452
Location:100 → 155

Ig_6; Immunoglobulin domain

cd00096
Location:251 → 254

Ig; Ig strand A [structural motif]

cl11960
Location:251 → 354

Ig; Immunoglobulin domain
XM_047446162.1 → XP_047302118.1 interleukin-18 receptor accessory protein isoform X2
XM_024453199.2 → XP_024308967.1 interleukin-18 receptor accessory protein isoform X1

UniProtKB/Swiss-Prot

B2RPJ3, O95256, Q2QDE5, Q3KPE7, Q3KPE8, Q53TT4, Q53TU5

Conserved Domains (4) summary

pfam01582
Location:419 → 559

TIR; TIR domain

pfam18452
Location:100 → 155

Ig_6; Immunoglobulin domain

cd00096
Location:251 → 254

Ig; Ig strand A [structural motif]

cl11960
Location:251 → 354

Ig; Immunoglobulin domain
XM_024453198.2 → XP_024308966.1 interleukin-18 receptor accessory protein isoform X1

UniProtKB/Swiss-Prot

B2RPJ3, O95256, Q2QDE5, Q3KPE7, Q3KPE8, Q53TT4, Q53TU5

Conserved Domains (4) summary

pfam01582
Location:419 → 559

TIR; TIR domain

pfam18452
Location:100 → 155

Ig_6; Immunoglobulin domain

cd00096
Location:251 → 254

Ig; Ig strand A [structural motif]

cl11960
Location:251 → 354

Ig; Immunoglobulin domain
XM_024453201.2 → XP_024308969.1 interleukin-18 receptor accessory protein isoform X1

UniProtKB/Swiss-Prot

B2RPJ3, O95256, Q2QDE5, Q3KPE7, Q3KPE8, Q53TT4, Q53TU5

Conserved Domains (4) summary

pfam01582
Location:419 → 559

TIR; TIR domain

pfam18452
Location:100 → 155

Ig_6; Immunoglobulin domain

cd00096
Location:251 → 254

Ig; Ig strand A [structural motif]

cl11960
Location:251 → 354

Ig; Immunoglobulin domain
XM_047446163.1 → XP_047302119.1 interleukin-18 receptor accessory protein isoform X3
XM_011512088.3 → XP_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 (3) summary

pfam01582
Location:277 → 417

TIR; TIR domain

cd00096
Location:109 → 112

Ig; Ig strand A [structural motif]

cl11960
Location:109 → 212

Ig; Immunoglobulin domain

RNA

XR_007083519.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

102877486..102911541

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054344340.1 → XP_054200315.1 interleukin-18 receptor accessory protein isoform X1

UniProtKB/Swiss-Prot

B2RPJ3, O95256, Q2QDE5, Q3KPE7, Q3KPE8, Q53TT4, Q53TU5
XM_054344344.1 → XP_054200319.1 interleukin-18 receptor accessory protein isoform X2
XM_054344342.1 → XP_054200317.1 interleukin-18 receptor accessory protein isoform X1

UniProtKB/Swiss-Prot

B2RPJ3, O95256, Q2QDE5, Q3KPE7, Q3KPE8, Q53TT4, Q53TU5
XM_054344341.1 → XP_054200316.1 interleukin-18 receptor accessory protein isoform X1

UniProtKB/Swiss-Prot

B2RPJ3, O95256, Q2QDE5, Q3KPE7, Q3KPE8, Q53TT4, Q53TU5
XM_054344343.1 → XP_054200318.1 interleukin-18 receptor accessory protein isoform X1

UniProtKB/Swiss-Prot

B2RPJ3, O95256, Q2QDE5, Q3KPE7, Q3KPE8, Q53TT4, Q53TU5
XM_054344346.1 → XP_054200321.1 interleukin-18 receptor accessory protein isoform X3
XM_054344345.1 → XP_054200320.1 interleukin-18 receptor accessory protein isoform X2