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IL18R1 Gene

protein-coding   GIFtS: 67
GCID: GC02P102928

Interleukin 18 Receptor 1

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Interleukin 18 Receptor 11 2     CD218 Antigen-Like Family Member A2 3
IL1RRP2 3 5     IL1 Receptor-Related Protein2 3
CDw218a2 3     CD218a2
IL-18R-12 3     IL18RA2
IL-18R12 3     Cytokine Receptor2
IL-1Rrp2 3     Interleukin-18 Receptor 12
IL1R-rp2 3     CD218a Antigen3

External Ids:    HGNC: 59881   Entrez Gene: 88092   Ensembl: ENSG000001156047   OMIM: 6044945   UniProtKB: Q134783   

Export aliases for IL18R1 gene to outside databases

Previous GC identifers: GC02P100843 GC02P101431 GC02P102583 GC02P102600 GC02P102437 GC02P102345 GC02P096744


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IL18R1 Gene:
The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This
receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction.
IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with
four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1
(T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Sep 2013)

GeneCards Summary for IL18R1 Gene:
IL18R1 (interleukin 18 receptor 1) is a protein-coding gene. Diseases associated with IL18R1 include cytokine receptor deficiency, and collagen disease. GO annotations related to this gene include interleukin-18 receptor activity and receptor activity. An important paralog of this gene is IL1RL2.

UniProtKB/Swiss-Prot: IL18R_HUMAN, Q13478
Function: Receptor for interleukin 18 (IL-18). Binding to the agonist leads to the activation of NF-kappa-B

Gene Wiki entry for IL18R1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IL18R1 gene promoter:
         GR   AML1a   GR-beta   AP-4   RORalpha2   FOXL1   Cart-1   GR-alpha   ZID   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIL18R1 promoter sequence
   Search Chromatin IP Primers for IL18R1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IL18R1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q12   Ensembl cytogenetic band:  2q12.1   HGNC cytogenetic band: 2q12

IL18R1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IL18R1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P102928:  view genomic region     (about GC identifiers)

Start:
102,927,989 bp from pter      End:
103,015,218 bp from pter
Size:
87,230 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IL18R_HUMAN, Q13478 (See protein sequence)
Recommended Name: Interleukin-18 receptor 1 precursor  
Size: 541 amino acids; 62304 Da
Subunit: Does not bind IL1A/interleukin-1 alpha or IL1B/interleukin-1 beta
Secondary accessions: B2R9Y5 Q52LC9

Explore the universe of human proteins at neXtProt for IL18R1: NX_Q13478

Explore proteomics data for IL18R1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn91, Asn102, Asn150, Asn197, Asn203, Asn236, Asn255, Asn297
  • Modification sites at PhosphoSitePlus

  • See IL18R1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001269328.1  NP_003846.1  

    ENSEMBL proteins: 
     ENSP00000386663   ENSP00000387211   ENSP00000233957   ENSP00000334030  

    IL18R1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for IL18R1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing
    IL: Interleukins and interleukin receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: Interleukin-18 1
    Immunoglobulin-like family of IL-1 receptors

    Selected InterPro protein domains (see all 6):
     IPR000157 TIR_dom
     IPR013783 Ig-like_fold
     IPR015621 IL-1_rcpt_fam
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q13478

    ProtoNet protein and cluster: Q13478

    2 Blocks protein domains:
    IPB003599 Immunoglobulin subtype
    IPB004075 Interleukin-1 receptor type I family signature


    UniProtKB/Swiss-Prot: IL18R_HUMAN, Q13478
    Similarity: Belongs to the interleukin-1 receptor family
    Similarity: Contains 3 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 TIR domain


    IL18R1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IL18R_HUMAN, Q13478
    Function: Receptor for interleukin 18 (IL-18). Binding to the agonist leads to the activation of NF-kappa-B

         Genatlas biochemistry entry for IL18R1:
    interleukin 18 receptor 1,type 1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS9325300
    GO:0004908interleukin-1 receptor activity IEA--
    GO:0005515protein binding ----
    GO:0042008interleukin-18 receptor activity IEA--
         
    IL18R1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for IL18R1:
     Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Il18r1):
     hematopoietic system  immune system 

    IL18R1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Il18r1tm1Aki for IL18R1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IL18R1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IL18R1

    miRNA
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    miRTarBase miRNAs that target IL18R1:
    hsa-mir-124-3p (MIRT023090)

    Block miRNA regulation of human, mouse, rat IL18R1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate IL18R1:
    hsa-miR-525-5p hsa-miR-3658 hsa-miR-377 hsa-miR-3915 hsa-miR-520a-5p hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmidIL18R1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat IL18R1

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    GenScript: all cDNA clones in your preferred vector: IL18R1 (NM_003855)
    Sino Biological Human cDNA Clone for IL18R1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IL18R1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL18R1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IL18R_HUMAN, Q13478: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    peroxisome2
    extracellular1
    lysosome1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS9325300
    GO:0016021integral component of membrane IEA--

    IL18R1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for IL18R1 About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    PGC1Alpha Pathway0.51
    Glucocorticoid Receptor Signaling0.43
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    2IL12-mediated signaling events
    Immune response IL 12 induced IFN gamma production0.33
    IL12-mediated signaling events0.33
    3TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.51
    4Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    5PAK Pathway
    Antioxidant Action of Vitamin-C0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for IL18R1
        IL-1 Family Signaling Pathways
    Th1 Differentiation

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for IL18R1 (see all 13)
        THC Differentiation Pathway
    STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    Glucocorticoid Receptor Signaling

    2 GeneGo (Thomson Reuters) Pathways for IL18R1
        Immune response IL-12 signaling pathway
    Immune response IL-12-induced IFN-gamma production

    3 BioSystems Pathways for IL18R1
        IL12-mediated signaling events
    IL12 signaling mediated by STAT4
    IL23-mediated signaling events



    3 Kegg Pathways  (Kegg details for IL18R1):
        Cytokine-cytokine receptor interaction
    TNF signaling pathway
    Inflammatory bowel disease (IBD)


    IL18R1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IL18R1: 
              Insulin Resistance in human mouse rat
              Th1/Th2 Response in human mouse rat
              T Helper Cell Differentiation in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IL18R1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for IL18R1 (Q134783 ENSP000002339574) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IL18Q141163, ENSP000002803574I2D: score=3 STRING: ENSP00000280357
    IL1RAPQ9NPH33, ENSP000000725164I2D: score=3 STRING: ENSP00000072516
    IL37Q9NZH63, ENSP000002633264I2D: score=3 STRING: ENSP00000263326
    CD48P093263, ENSP000003570254I2D: score=2 STRING: ENSP00000357025
    IRAK1P516173I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response TAS9325300
    GO:0007165signal transduction TAS9325300
    GO:0030101natural killer cell activation IEA--
    GO:0032729positive regulation of interferon-gamma production IEA--
    GO:0035655interleukin-18-mediated signaling pathway ----

    IL18R1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IL18R1 (IL18R)

    Selected Novoseek inferred chemical compound relationships for IL18R1 gene (see all 71)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gp 130 85.9 40 8514784 (1), 9501088 (1), 10899245 (1), 16774741 (1) (see all 37)
    tyrosine 78.1 255 9269296 (3), 7871433 (3), 8294397 (2), 7525556 (2) (see all 99)
    phosphotyrosine 53.4 8 9446647 (1), 16426581 (1), 8843168 (1), 9062191 (1) (see all 7)
    neopterin 39.7 12 15508904 (3), 10924610 (2), 11256860 (1), 12696651 (1) (see all 8)
    propanil 39.6 4 10383417 (1), 8780729 (1), 9133424 (1)
    phosphatidylinositol 36.3 5 9305869 (1), 11509545 (1), 7630930 (1), 10605001 (1) (see all 5)
    serine 28.6 7 8157958 (1), 8134361 (1), 15940250 (1), 16364194 (1) (see all 7)
    rantes 22.8 3 10572378 (1), 10508185 (1), 14743390 (1)
    vesnarinone 22.6 6 11502643 (3), 11319194 (1)
    alanine 13.5 3 2034689 (1), 7739562 (1), 19920145 (1)



    IL18R1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for IL18R1 gene (2 alternative transcripts): 
    NM_001282399.1  NM_003855.3  

    Unigene Cluster for IL18R1:

    Interleukin 18 receptor 1
    Hs.469521  [show with all ESTs]
    Unigene Representative Sequence: NM_003855
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000410040 ENST00000409599(uc002tbw.4 uc010fiy.3 uc010ywc.2 uc010ywd.2)
    ENST00000466357 ENST00000233957 ENST00000334376(uc010ywb.1)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    6 qRT-PCR Assays for microRNAs that regulate IL18R1:
    hsa-miR-525-5p hsa-miR-3658 hsa-miR-377 hsa-miR-3915 hsa-miR-520a-5p hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmidIL18R1 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat IL18R1
      QuantiFast Probe-based Assays in human, mouse, rat IL18R1

    Additional mRNA sequence: 

    AK313967.1 AY192162.1 BC069575.1 BC093975.1 BC093977.1 BC143403.1 BC143405.1 U43672.1 

    4 DOTS entries:

    DT.405950  DT.100776235  DT.91854286  DT.100735658 

    24 AceView cDNA sequences:

    CB157401 CA447335 AY192162 U43672 BC069575 AI803942 NM_003855 AJ705527 
    BX092391 BG540341 BQ711554 AI720021 AI821652 AI620248 BX426710 AV696742 
    AI734039 BG570407 BG541512 AV684401 BU430024 AA482637 AA482489 BG542027 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IL18R1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAGTGAACA
    IL18R1 Expression
    About this image


    IL18R1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Duct Cells Pancreatic Ducts
             Islets of Langerhans
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Body Subcutaneous White Adipose
             HyStem+BMP4-induced 7SMOO32 cells
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Sertoli cells Seminiferous Tubules
    IL18R1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IL18R1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.469521

    UniProtKB/Swiss-Prot: IL18R_HUMAN, Q13478
    Tissue specificity: Expressed in lung, leukocytes, spleen, liver, thymus, prostate, small intestine, colon,
    placenta, and heart, and is absent from brain, skeletal muscle, pancreas, and kidney. High level of expression in
    Hodgkin disease cell lines

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IL18R1: 
              Insulin Resistance in human mouse rat
              Th1/Th2 Response in human mouse rat
              T Helper Cell Differentiation in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat IL18R1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL18R1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for IL18R1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Il18r11 , 5 interleukin 18 receptor 11, 5 72.67(n)1
    65.29(a)1
      1 (19.27 cM)5
    161821  NM_008365.21  NP_032391.11 
     404655525 
    chicken
    (Gallus gallus)
    Aves IL18R11 interleukin 18 receptor 1 58.07(n)
    45.31(a)
      418717  NM_001145225.2  NP_001138697.2 
    lizard
    (Anolis carolinensis)
    Reptilia IL18R16
    interleukin 18 receptor 1
    41(a)
    1 ↔ 1
    GL343243.1(1582854-1609154)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017328551 interleukin-18 receptor 1-like 54.33(n)
    41.49(a)
      101732855  XM_004912351.1  XP_004912408.1 


    ENSEMBL Gene Tree for IL18R1 (if available)
    TreeFam Gene Tree for IL18R1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IL18R1 gene
    IL1RL22  IL1RAPL22  IL1RAPL12  IL1RAP2  IL18RAP2  IL1R22  IL1RL12  IL1R12  
    2 SIMAP similar genes for IL18R1 using alignment to 3 protein entries:     IL18R_HUMAN (see all proteins):
    IL1RL1    IL1RAPL2

    IL18R1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IL18R1 (see all 808)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs65431231,2
    C,F,A--102977196(+) AGTTAC/TGGAAA 1 -- us2k115Minor allele frequency- T:0.46NA EU WA CSA EA 468
    rs114655631,2
    C,F--102977236(+) TTAAAA/GACCCT 1 -- us2k1 tfbs34Minor allele frequency- G:0.01NA EU 96
    rs1457160901,2
    --102977262(+) TGAGAC/TATTTA 1 -- us2k10--------
    rs114655641,2
    C,F--102977372(+) TATAAC/ACTTAA 1 -- us2k1 tfbs35Minor allele frequency- A:0.02NA EU 216
    rs114655661,2
    C,F--102977405(+) CTTAAG/ATACAT 1 -- us2k14Minor allele frequency- A:0.04NA EU WA 212
    rs111239251,2
    C,F--102977511(+) ACTCAG/AAGTTA 1 -- us2k1 tfbs313Minor allele frequency- A:0.46NA EU WA CSA EA 465
    rs67108851,2
    C,F,A,H--102977537(+) GAGCCA/GTCTCC 1 -- us2k125Minor allele frequency- G:0.34NA EU NS EA WA 2464
    rs1489238651,2
    --102977545(+) TCCTGA/GTAACT 1 -- us2k10--------
    rs1438379851,2
    C--102977711(+) GTGGGA/GGAGGT 1 -- us2k10--------
    rs102048371,2
    C,F,A,H--102977730(+) ATAGAC/ACCAGT 1 -- us2k126Minor allele frequency- A:0.41NA EU NS EA WA CSA 2445

    HapMap Linkage Disequilibrium report for IL18R1 (102927989 - 103015218 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for IL18R1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2856CNV Loss18451855

    Human Gene Mutation Database (HGMD): IL18R1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IL18R1
    DNA2.0 Custom Variant and Variant Library Synthesis for IL18R1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604494    OMIM disorders: --

    Selected diseases for IL18R1 (see all 127):    
    About MalaCards
    cytokine receptor deficiency    collagen disease    congenital amegakaryocytic thrombocytopenia    periventricular leukomalacia
    acute basophilic leukemia    leukomalacia    human monocytic ehrlichiosis    laron syndrome
    ehrlichiosis    costello syndrome    meningococcal infection    severe combined immunodeficiency
    typhoid fever    dwarfism    end stage renal failure    lupus nephritis
    adenomyosis    reactive arthritis    mumps    hypophosphatemia


    IL18R1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    Selected Novoseek inferred disease relationships for IL18R1 gene (see all 91)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    severe combined immunodeficiency, x-linked 75.2 10 7883965 (1), 12193946 (1), 14966353 (1), 10933924 (1) (see all 8)
    necrosis 64 47 8285627 (1), 9605988 (1), 11887976 (1), 9726035 (1) (see all 46)
    myeloproliferative disorders 53.6 1 19293402 (1)
    severe combined immunodeficiency 53.5 3 10419614 (1), 8795294 (1), 9446656 (1)
    inflammation 50.5 29 10574621 (1), 11550959 (1), 11810184 (1), 12176079 (1) (see all 28)
    leukemia 48 18 8217791 (2), 8276403 (1), 8943050 (1), 17522711 (1) (see all 17)
    tumors 44.4 55 14598359 (2), 8285627 (1), 9605988 (1), 8519809 (1) (see all 52)
    response acute phase 41.5 4 8759474 (1), 19260954 (1), 9159271 (1)
    autoimmune diseases 36.9 3 20383174 (1), 17522711 (1), 8741660 (1)
    laron syndrome 36.4 1 8853444 (1)

    Genetic Association Database (GAD): IL18R1
    Human Genome Epidemiology (HuGE) Navigator: IL18R1 (26 documents)

    Export disorders for IL18R1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IL18R1 gene, integrated from 10 sources (see all 932):
    (articles sorted by number of sources associating them with IL18R1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. IL-1Rrp is a novel receptor-like molecule similar to the type I interleukin-1 receptor and its homologues T1/ST2 and IL-1R AcP. (PubMed id 8626725)1, 2, 3 Parnet P.... Sims J.E. (J. Biol. Chem. 1996)
    2. Lack of association between polymorphisms of the IL18R1 and IL18RAP genes and cardiovascular risk: the MORGAM Project. (PubMed id 19473509)1, 4, 9 Grisoni M.L....Tregouet D.A. (BMC Med. Genet. 2009)
    3. Interleukin-1 receptor cluster: gene organization of IL1R2, IL1R1, IL1RL2 (IL-1Rrp2), IL1RL1 (T1/ST2), and IL18R1 (IL-1Rrp) on human chromosome 2q. (PubMed id 10191101)1, 3, 9 Dale M. and Nicklin M.J. (Genomics 1999)
    4. IL18 and IL18R1 polymorphisms, lung CT and fibrosis: A longitudinal study in coal miners. (PubMed id 16971411)1, 4, 9 Nadif R....Kleeberger S.R. (Eur. Respir. J. 2006)
    5. Evaluation of candidate genes in a genome-wide association study of childhood asthma in Mexicans. (PubMed id 19910030)1, 4, 9 Wu H....London S.J. (J. Allergy Clin. Immunol. 2010)
    6. Interleukin 18 receptor 1 gene polymorphisms are associated with asthma. (PubMed id 18382474)1, 4, 9 Zhu G....Pillai S.G. (Eur. J. Hum. Genet. 2008)
    7. Association of IL1RL1, IL18R1, and IL18RAP gene cluster polymorphisms with asthma and atopy. (PubMed id 18774397)1, 4, 9 Reijmerink N.E....Koppelman G.H. (J. Allergy Clin. Immunol. 2008)
    8. Associations between cytokine/cytokine receptor single nucleotide polymorphisms and humoral immunity to measles, mumps and rubella in a Somali population. (PubMed id 18715339)1, 4, 9 Dhiman N....Poland G.A. (Tissue Antigens 2008)
    9. Genetic analysis of the interleukin-18 system highlights the role of the interleukin-18 gene in cardiovascular disease. (PubMed id 16043644)1, 4, 9 Tiret L....Blankenberg S. (Circulation 2005)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8809 HGNC: 5988 AceView: IL18R1 Ensembl:ENSG00000115604 euGenes: HUgn8809
    ECgene: IL18R1 Kegg: 8809 H-InvDB: IL18R1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IL18R1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for IL18R1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IL18R1 gene:
    Search GeneIP for patents involving IL18R1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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