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

    Gene ID: 26280, updated on 17-Jun-2019

    Summary

    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
    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

    Genomic context

    See IL1RAPL2 in Genome Data Viewer
    Location:
    Xq22.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (104566199..105769729)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (103810996..105011822)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 199, X-linked Neighboring gene ESX homeobox 1 Neighboring gene prohibitin pseudogene 10 Neighboring gene ribosomal protein L18a pseudogene 14 Neighboring gene testis expressed 13A Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 2 Neighboring gene uncharacterized LOC107985680 Neighboring gene uncharacterized LOC105373303 Neighboring gene RNA, U6 small nuclear 207, pseudogene 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

    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 FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

    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

    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_012566.3 RefSeqGene

      Range
      5001..1206515
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017416.2NP_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
      Q9NP60
      Related
      ENSP00000361663.1, ENST00000372582.5
      Conserved Domains (4) summary
      smart00410
      Location:250347
      IG_like; Immunoglobulin like
      pfam01582
      Location:402563
      TIR; TIR domain
      cd05757
      Location:146237
      Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
      cl11960
      Location:32133
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens 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_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      104566199..105769729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (4) summary
      cd00096
      Location:137220
      Ig; Immunoglobulin domain
      cd05757
      Location:22113
      Ig2_IL1R_like; Second immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins
      smart00255
      Location:277435
      TIR; Toll - interleukin 1 - resistance
      smart00410
      Location:126223
      IG_like; Immunoglobulin like
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