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

    Gene ID: 26280, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (104566199..105767829)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (102997341..104199639)
    RS_2024_09 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 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 cell surface receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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_2024_08

    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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