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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IL18R1 Gene

protein-coding   GIFtS: 66
GCID: GC02P102928

Interleukin 18 Receptor 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 collagen disease, and cytokine receptor deficiency, and among its related super-pathways are STAT3 Pathway and Immune response IL-12-induced IFN-gamma production. GO annotations related to this gene include interleukin-1 receptor activity and receptor activity. An important paralog of this gene is IL1R2.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022171.15  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for IL18R1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Membrane; Single-pass type I membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13478

  • IL18R1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IL18R1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001269328.1  NP_003846.1  

    ENSEMBL proteins: 
     ENSP00000386663   ENSP00000387211   ENSP00000233957   ENSP00000334030  

    Human Recombinant Protein Products for IL18R1: 
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    Sino Biological Cell Lysate for IL18R1 
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    Cloud-Clone Corp. Proteins for IL18R1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    IL18R1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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

    5/6 InterPro protein domains (see all 6):
     IPR000157 TIR_dom
     IPR013783 Ig-like_fold
     IPR015621 IL1-receptor_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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Il18r1):
     immune system 

    IL18R1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Il18r1tm1Aki for IL18R1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for IL18R1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IL18R1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IL18R1 

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    SwitchGear 3'UTR luciferase reporter plasmidIL18R1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL18R1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for IL18R1 About   (see all 13)                                                                                              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
    2Immune response IL-12-induced IFN-gamma production
    Immune response IL-12-induced IFN-gamma production0.88
    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
    5Immune response IL-12 signaling pathway
    Immune response IL-12 signaling pathway0.96

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for IL18R1
        Immune response IL-12-induced IFN-gamma production
    Immune response IL-12 signaling pathway

    1 R&D Systems Pathway for IL18R1
        Th1 Differentiation

    5/13 Downloadable PowerPoint Slides of QIAGEN 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
        IL23-mediated signaling events
    IL12-mediated signaling events
    IL12 signaling mediated by STAT4



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


    IL18R1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IL18R1

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

    5/15 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): 5/7 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    IL18R1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IL18R1 (IL18R)

    10/71 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)

    Search CenterWatch for drugs/clinical trials and news about IL18R1 / IL18R

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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:

    NM_003855 AJ705527 AY192162 CA447335 U43672 AI803942 CB157401 BC069575 
    AI821652 AI734039 BQ711554 BG540341 BG541512 BG570407 AV696742 AI620248 
    BX426710 AI720021 BX092391 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IL18R1 expression in normal human tissues (normalized intensities)      IL18R1 embryonic expression: see
    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 
     5/34 selected tissues (see all 34) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 4 entries
             Hepatocytes Liver Lobule
             Human Mesenchymal Stem Cell-hepatic (HMSC-he)   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Epithelium (Reproductive System)    fully expand to see all 4 entries
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   

    See IL18R1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IL18R1

    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

        SABiosciences Expression via Pathway-Focused 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

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    In Situ
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    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

    This gene was present in the common ancestor of chordates.

    Orthologs for IL18R1 gene from 3/9 species (see all 9)    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)
    45.12(a)
      418717  NM_001145225.2  NP_001138697.2 
    lizard
    (Anolis carolinensis)
    Reptilia IL18R16
    Uncharacterized protein
    40(a)
    1 ↔ 1
    GL343243.1(1582854-1609154)


    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)
    About This Section
    Paralogs for IL18R1 gene
    IL1R22  IL1RL22  IL1RAPL22  IL1RAPL12  IL1RL12  IL1RAP2  IL18RAP2  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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/808 SNPs in IL18R1 are shown (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
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 604494    OMIM disorders: --

    20/119 diseases for IL18R1 (see all 119):    About MalaCards
    collagen disease    cytokine receptor deficiency    joint disorders    periventricular leukomalacia
    congenital amegakaryocytic thrombocytopenia    acute basophilic leukemia    human monocytic ehrlichiosis    leukomalacia
    laron syndrome    ehrlichiosis    meningococcal infection    costello syndrome
    typhoid fever    severe combined immunodeficiency    end stage renal failure    smallpox
    adenomyosis    lupus nephritis    dwarfism    reactive arthritis


    IL18R1 for disorders           About GeneDecksing


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

    10/91 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)
    About This Section

    PubMed articles for IL18R1 gene, integrated from 9 sources (see all 929):
    (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. (1996)
    2. Lack of association between polymorphisms of the IL18 R1 and IL18RAP genes and cardiovascular risk: the MORGAM Project. (PubMed id 19473509)1, 4, 9 Grisoni M.L....Tregouet D.A. (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. (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. (2006)
    5. Evaluation of candidate genes in a genome-wide associ ation study of childhood asthma in Mexicans. (PubMed id 19910030)1, 4, 9 Wu H....London S.J. (2010)
    6. Interleukin 18 receptor 1 gene polymorphisms are associated with asthma. (PubMed id 18382474)1, 4, 9 Zhu G....Pillai S.G. (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. (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. (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. (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. (2010)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 8809 HGNC: 5988 AceView: IL18R1 Ensembl:ENSG00000115604 euGenes: HUgn8809
    ECgene: IL18R1 Kegg: 8809 H-InvDB: IL18R1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

     
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