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IL1RAPL2 interleukin 1 receptor accessory protein like 2 [ Homo sapiens (human) ]

Gene ID: 26280, updated on 11-Apr-2024

Summary

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Official Symbol
IL1RAPL2provided by HGNC
Official Full Name
interleukin 1 receptor accessory protein like 2provided by HGNC
Primary source
HGNC:HGNC:5997
See related
Ensembl:ENSG00000189108 MIM:300277; AllianceGenome:HGNC:5997
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
IL1R9; IL-1R9; TIGIRR-1; IL1RAPL-2
Summary
The protein encoded by this gene is a member of the interleukin 1 receptor family. This protein is similar to the interleukin 1 accessory proteins, and is most closely related to interleukin 1 receptor accessory protein-like 1 (IL1RAPL1). This gene and IL1RAPL1 are located at a region on chromosome X that is associated with X-linked non-syndromic cognitive disability. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See IL1RAPL2 in Genome Data Viewer
Location:
Xq22.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (104566199..105767829)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (102997341..104199639)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (103810880..105011822)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29826 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:103410976-103411476 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:103481389-103481600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:103498244-103499059 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:103502018-103502809 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:103515830-103516014 Neighboring gene family with sequence similarity 199, X-linked Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:103587712-103588212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:103611071-103611570 Neighboring gene ESX homeobox 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:103811957-103812714 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chrX:103921885-103922468 Neighboring gene NANOG hESC enhancer GRCh37_chrX:103934072-103934573 Neighboring gene PHB1 pseudogene 10 Neighboring gene ribosomal protein L18a pseudogene 14 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:104543919-104544655 Neighboring gene testis expressed 13A Neighboring gene NANOG hESC enhancer GRCh37_chrX:104669910-104670411 Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 2 Neighboring gene uncharacterized LOC107985680 Neighboring gene NANOG hESC enhancer GRCh37_chrX:104880562-104881086 Neighboring gene NANOG hESC enhancer GRCh37_chrX:104892408-104892914 Neighboring gene uncharacterized LOC105373303 Neighboring gene RNA, U6 small nuclear 207, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:105065433-105066413 Neighboring gene uncharacterized LOC105373304 Neighboring gene HNF1 motif-containing MPRA enhancer 3 Neighboring gene uncharacterized LOC105373305 Neighboring gene Nik related kinase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Crystal structure of the Toll/interleukin-1 receptor (TIR) domain of IL-1R10 provides structural insights into TIR domain signalling. Nimma S, et al. FEBS Lett, 2022 Apr. PMID 35038778
  2. Immunolocalization of interleukin-1 receptors in the sarcolemma and nuclei of skeletal muscle in patients with idiopathic inflammatory myopathies. Grundtman C, et al. Arthritis Rheum, 2007 Feb. PMID 17265504
  3. Computational identification, cloning, and characterization of IL-1R9, a novel interleukin-1 receptor-like gene encoded over an unusually large interval of human chromosome Xq22.2-q22.3. Sana TR, et al. Genomics, 2000 Oct 15. PMID 11031108
  4. IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system. Ferrante MI, et al. Gene, 2001 Sep 19. PMID 11587848
  5. Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation. Jin H, et al. Eur J Hum Genet, 2000 Feb. PMID 10757639

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Crystal structure of the Toll/interleukin-1 receptor (TIR) domain of IL-1R10 provides structural insights into TIR domain signalling.
    Title: Crystal structure of the Toll/interleukin-1 receptor (TIR) domain of IL-1R10 provides structural insights into TIR domain signalling.
  2. A total of six novel and 11 known single nucleotide polymorphisms were identified. Further studies are warranted to analyze the candidate genes at Xq11.1-q21.33.
    Title: Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
  4. The increased expression of IL-1 receptor and the colocalization with reciprocal ligands in patients with myositis but not in healthy controls support the hypothesis of a crucial role of IL-1 in the pathogenesis of polymyositis and dermatomyositis.
    Title: Immunolocalization of interleukin-1 receptors in the sarcolemma and nuclei of skeletal muscle in patients with idiopathic inflammatory myopathies.
  5. Increased circulating levels of IL-1 accessory protein is associated with Hepatitis C virus positive patients
    Title: Analysis of interleukin (IL)-1beta IL-1 receptor antagonist, soluble IL-1 receptor type II and IL-1 accessory protein in HCV-associated lymphoproliferative disorders.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 interleukin-1 receptor activity TAS
Traceable Author Statement
more info
 PubMed 
enables interleukin-1, type II, blocking receptor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in central nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in cytokine-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of presynapse assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of presynapse assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
X-linked interleukin-1 receptor accessory protein-like 2
Names
IL-1 receptor accessory protein-like 2
IL-1R-9
IL1RAPL-2-related protein
interleukin 1 receptor 9
three immunoglobulin domain-containing IL-1 receptor-related 1
NP_059112.1
XP_011529207.1
XP_054182797.1

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

  1. NG_012566.3 RefSeqGene

    Range
    4885..1206515
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017416.2 → NP_059112.1  X-linked interleukin-1 receptor accessory protein-like 2 precursor

    See identical proteins and their annotated locations for NP_059112.1

    Status: REVIEWED

    Source sequence(s)
    AJ272208, AL133381
    Consensus CDS
    CCDS14517.1
    UniProtKB/Swiss-Prot
    Q2M3U3, Q9NP60, Q9NZN0
    Related
    ENSP00000361663.1, ENST00000372582.6
    Conserved Domains (4) summary
    smart00410
    Location:250 → 347
    IG_like; Immunoglobulin like
    pfam01582
    Location:402 → 563
    TIR; TIR domain
    cd05757
    Location:146 → 237
    Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
    cl11960
    Location:32 → 133
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    104566199..105767829
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530905.3 → XP_011529207.1  X-linked interleukin-1 receptor accessory protein-like 2 isoform X1

    Conserved Domains (4) summary
    cd00096
    Location:137 → 220
    Ig; Immunoglobulin domain
    cd05757
    Location:22 → 113
    Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
    smart00255
    Location:277 → 435
    TIR; Toll - interleukin 1 - resistance
    smart00410
    Location:126 → 223
    IG_like; Immunoglobulin like

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    102997341..104199639
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326822.1 → XP_054182797.1  X-linked interleukin-1 receptor accessory protein-like 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NP60.1 GenPept UniProtKB/Swiss-Prot:Q9NP60

Gene LinkOut

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