Human Gene IL18RAP (uc002tbx.3)
  Description: Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.
RefSeq Summary (NM_003853): The protein encoded by this gene is an accessory subunit of the heterodimeric receptor for interleukin 18 (IL18), a proinflammatory cytokine involved in inducing cell-mediated immunity. This protein enhances the IL18-binding activity of the IL18 receptor and plays a role in signaling by IL18. Mutations in this gene are associated with Crohn's disease and inflammatory bowel disease, and susceptibility to celiac disease and leprosy. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014].
Transcript (Including UTRs)
   Position: hg19 chr2:103,035,254-103,069,024 Size: 33,771 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr2:103,039,738-103,068,641 Size: 28,904 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:103,035,254-103,069,024)mRNA (may differ from genome)Protein (599 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: I18RA_HUMAN
DESCRIPTION: RecName: Full=Interleukin-18 receptor accessory protein; Short=IL-18 receptor accessory protein; Short=IL-18RAcP; AltName: Full=Accessory protein-like; Short=AcPL; AltName: Full=CD218 antigen-like family member B; AltName: Full=CDw218b; AltName: Full=IL-1R accessory protein-like; Short=IL-1RAcPL; AltName: Full=Interleukin-1 receptor 7; Short=IL-1R-7; Short=IL-1R7; AltName: Full=Interleukin-18 receptor accessory protein-like; AltName: Full=Interleukin-18 receptor beta; Short=IL-18R-beta; Short=IL-18Rbeta; AltName: CD_antigen=CD218b; Flags: Precursor;
FUNCTION: Required for the high affinity binding of interleukin 18 (IL-18) to its receptor complex (By similarity). Together with IL18R1 mediates IL-18-dependent activation of NF-kappa-B and JNK.
SUBUNIT: Together with IL18R1, probably belongs to the IL-18 receptor complex. Seems not to interact directly with IL-18.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential).
TISSUE SPECIFICITY: Strongly expressed in peripheral blood leukocytes, spleen, lung, and, to a lesser extent, in colon, but not in any other tissue tested. Strongly expressed in T-cells polarized with IL-12. Specifically coexpressed with IL18R1 in Th1 cells.
INDUCTION: Induced by IFN-alpha and IL12/interleukin-12 in natural killer (NK) cells and T-cells.
SIMILARITY: Belongs to the interleukin-1 receptor family.
SIMILARITY: Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
SIMILARITY: Contains 1 TIR domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): IL18RAP
CDC HuGE Published Literature: IL18RAP
Positive Disease Associations: Celiac disease , Crohn Disease
Related Studies:
  1. Celiac disease
    Hunt ,et al. 2008, Newly identified genetic risk variants for celiac disease related to the immune response, Nature genetics 2008 40- 4 : 395-402. [PubMed 18311140]
  2. Celiac disease
    Dubois ,et al. Nat Genet 2010, Multiple common variants for celiac disease influencing immune gene expression , Nature genetics 2010 42- 4 : 295-302. [PubMed 20190752]
  3. Celiac Disease
    Patrick C A Dubois et al. Nature genetics 2010, Multiple common variants for celiac disease influencing immune gene expression., Nature genetics. [PubMed 20190752]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: IL18RAP
Diseases sorted by gene-association score: celiac disease (10), leprosy (9), inflammatory bowel disease (6), crohn's disease (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 87.47 RPKM in Whole Blood
Total median expression: 153.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -123.65484-0.255 Picture PostScript Text
3' UTR -113.70383-0.297 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003599 - Ig_sub
IPR015621 - IL1-receptor_fam
IPR004075 - IL1_rcpt_1
IPR000157 - TIR_dom

Pfam Domains:
PF01582 - TIR domain

SCOP Domains:
48726 - Immunoglobulin
52200 - Toll/Interleukin receptor TIR domain

ModBase Predicted Comparative 3D Structure on O95256
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0038023 signaling receptor activity

Biological Process:
GO:0006954 inflammatory response
GO:0006955 immune response
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0008283 cell proliferation
GO:0032609 interferon-gamma production
GO:0032635 interleukin-6 production
GO:0035655 interleukin-18-mediated signaling pathway
GO:0035744 T-helper 1 cell cytokine production
GO:0042119 neutrophil activation
GO:0045954 positive regulation of natural killer cell mediated cytotoxicity
GO:0070301 cellular response to hydrogen peroxide
GO:0071345 cellular response to cytokine stimulus
GO:0071351 cellular response to interleukin-18

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK300026 - Homo sapiens cDNA FLJ60875 complete cds, highly similar to Interleukin-18 receptor accessory protein precursor.
LP895391 - Sequence 255 from Patent EP3253886.
AF077346 - Homo sapiens interleukin-18 receptor accessory protein-like mRNA, complete cds.
JD435918 - Sequence 416942 from Patent EP1572962.
JD037165 - Sequence 18189 from Patent EP1572962.
BC106764 - Homo sapiens interleukin 18 receptor accessory protein, mRNA (cDNA clone MGC:120589 IMAGE:40026248), complete cds.
BC106765 - Homo sapiens interleukin 18 receptor accessory protein, mRNA (cDNA clone MGC:120590 IMAGE:40026249), complete cds.
JD530409 - Sequence 511433 from Patent EP1572962.
JD546196 - Sequence 527220 from Patent EP1572962.
BC069630 - Homo sapiens interleukin 18 receptor accessory protein, mRNA (cDNA clone MGC:97224 IMAGE:7262472), complete cds.
JD181428 - Sequence 162452 from Patent EP1572962.
JD316173 - Sequence 297197 from Patent EP1572962.
JD499552 - Sequence 480576 from Patent EP1572962.
BC137474 - Homo sapiens interleukin 18 receptor accessory protein, mRNA (cDNA clone MGC:169097 IMAGE:9021474), complete cds.
BC137475 - Homo sapiens interleukin 18 receptor accessory protein, mRNA (cDNA clone MGC:169098 IMAGE:9021475), complete cds.
DQ116957 - Homo sapiens IL-18 receptor beta splice variant mRNA, complete cds, alternatively spliced.
AB590641 - Synthetic construct DNA, clone: pFN21AE2022, Homo sapiens IL18RAP gene for interleukin 18 receptor accessory protein, without stop codon, in Flexi system.
KJ892625 - Synthetic construct Homo sapiens clone ccsbBroadEn_02019 IL18RAP gene, encodes complete protein.
JD530908 - Sequence 511932 from Patent EP1572962.
JD333505 - Sequence 314529 from Patent EP1572962.
JD360823 - Sequence 341847 from Patent EP1572962.
JD380644 - Sequence 361668 from Patent EP1572962.
JD563403 - Sequence 544427 from Patent EP1572962.
JD071507 - Sequence 52531 from Patent EP1572962.
JD434088 - Sequence 415112 from Patent EP1572962.
JD258295 - Sequence 239319 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein O95256 (Reactome details) participates in the following event(s):

R-HSA-8848395 IL18:IL18R1 binds IL18RAP
R-HSA-9012546 Interleukin-18 signaling
R-HSA-446652 Interleukin-1 family signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B2RPJ3, I18RA_HUMAN, IL1R7, NM_003853, NP_003844, O95256, Q3KPE7, Q53TT4, Q53TU5
UCSC ID: uc002tbx.3
RefSeq Accession: NM_003853
Protein: O95256 (aka I18RA_HUMAN)
CCDS: CCDS2061.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003853.2
exon count: 12CDS single in 3' UTR: no RNA size: 2668
ORF size: 1800CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3594.50frame shift in genome: no % Coverage: 99.96
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.