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

IL9R Gene

protein-coding   GIFtS: 60
GCID: GC0XP155227

interleukin 9 receptor

 Explore 24 diseases affiliated with
IL9R via our new
 Human Malady Compendium 
Biological research products
for IL9R
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Interleukin 9 Receptor1 2
CD1291 2
IL-9R2 3
IL-9 Receptor2 3
Interleukin-9 Receptor2
CD129 Antigen3

External Ids:    HGNC: 60301   Entrez Gene: 35812   Ensembl: ENSG000001243347   OMIM: 3000075   UniProtKB: Q011133   
ORGUL members:         
NONCODE:n406521    

Export aliases for IL9R gene to outside databases

Previous GC identifers: GC0XP149216 GC0XP151533 GC0XP152600 GC0XP153659 GC0YP057668 GC0XP154790 GC0XP143710


(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 IL9R:
The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of
interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor,
gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this
receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic
responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an
association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have
been described. Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Jul
2008)

UniProtKB/Swiss-Prot: IL9R_HUMAN, Q01113
Function: This is a receptor for interleukin-9

Gene Wiki entry for IL9R (Interleukin-9 receptor)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_000024.9  NC_018934.1  NT_167198.1  NT_167206.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IL9R gene promoter:
         p53   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): IL9R promoter sequence
   Search SABiosciences Chromatin IP Primers for IL9R

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IL9R


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

Entrez Gene cytogenetic band: Xq28 and Yq12   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28 and Yq12

IL9R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IL9R gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP155227:  view genomic region     (about GC identifiers)

Start:
155,227,246 bp from pter      End:
155,251,689 bp from pter
Size:
24,444 bases      Orientation:
plus strand

1 alternative location:
ChrY+ 59,330,252-59,343,488     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: IL9R_HUMAN, Q01113 (See protein sequence)
Recommended Name: Interleukin-9 receptor precursor  
Size: 521 amino acids; 57147 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein. Secreted
Miscellaneous: The gene encoding for this protein is located in the pseudoautosomal region 2 (PAR2) of X and Y
chromosomes
Sequence caution: Sequence=AAB30844.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B9ZVT0 Q14634 Q8WWU1 Q96TF0
Alternative splicing: 3 isoforms:  Q01113-1   Q01113-2   Q01113-3   

Explore the universe of human proteins at neXtProt for IL9R: NX_Q01113

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q01113

  • IL9R Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_002177.2  NP_789743.2  

    ENSEMBL proteins: 
     ENSP00000244174   ENSP00000358431   ENSP00000438112   ENSP00000388918  

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    Uscn Proteins for IL9R

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space TAS1376929
    GO:0005887integral to plasma membrane TAS1376929
    GO:0016020membrane ----


    IL9R for ontologies           About GeneDecksing



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

    IL9R for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR003531 Hempt_rcpt_S_F1_CS

    Graphical View of Domain Structure for InterPro Entry Q01113

    ProtoNet protein and cluster: Q01113

    1 Blocks protein family: IPB003531 Short hematopoietin receptor

    UniProtKB/Swiss-Prot: IL9R_HUMAN, Q01113
    Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular
    transport and cell-surface receptor binding
    Domain: The box 1 motif is required for JAK interaction and/or activation
    Similarity: Belongs to the type I cytokine receptor family. Type 4 subfamily
    Similarity: Contains 1 fibronectin type-III domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: IL9R_HUMAN, Q01113
    Function: This is a receptor for interleukin-9

         Genatlas biochemistry entry for IL9R:
    interleukin 9 receptor,X-linked,escaping X inactivation,subtelomeric long arm pseudoautosomal region (PARXQ),with
    several alternatively spliced forms

    miRNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004896cytokine receptor activity ----
    GO:0004919interleukin-9 receptor activity TAS1376929


    IL9R for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for IL9R:
     Cell cycle / mitosis defect 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1IL-9 Signaling Pathways
    IL-9 Signaling Pathways1.00
    Immune response IL-9 signaling pathway0.42
    IL-9 Signaling Pathway0.42
    IL-9 Pathway0.22
    Immune response_IL-9 signaling pathway0.42
    2TGF-Beta Pathway
    TGF-Beta Pathway1.00
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.50
    3PEDF Induced Signaling
    STAT3 Pathway0.47
    Glucocorticoid Receptor Signaling0.27
    PGC1Alpha Pathway0.33
    Cytokine-cytokine receptor interaction0.26
    4Akt Signaling
    Akt Signaling1.00
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    5IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types
    IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for IL9R
        Immune response IL-9 signaling pathway

    2 R&D Systems Pathways for IL9R
        IL-9 Signaling Pathways
    IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types

    5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for IL9R (see all 13)
        IL-9 Pathway
    STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    Glucocorticoid Receptor Signaling

    1 GeneGo (Thomson Reuters) Pathway for IL9R
        Immune response IL-9 signaling pathway

    1 BioSystems Pathway for IL9R 
        IL-9 Signaling Pathway


    3         Kegg Pathways  (Kegg details for IL9R):
        Cytokine-cytokine receptor interaction
    Jak-STAT signaling pathway
    Hematopoietic cell lineage


    IL9R for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IL9R

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/20 Interacting proteins for IL9R (Q011132, 3 ENSP000002441744) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3, ENSP000003095034MINT-17016 MINT-8005451 MINT-17015 MINT-17018 MINT-17017 I2D: score=3 STRING: ENSP00000309503
    IL9P152483, ENSP000002745204I2D: score=2 STRING: ENSP00000274520
    JAK1P234583, ENSP000003432044I2D: score=3 STRING: ENSP00000343204
    KAT5Q929933, ENSP000003403304I2D: score=2 STRING: ENSP00000340330
    IL2RGP317853I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS1376929
    GO:0008283cell proliferation TAS1376929
    GO:0038113interleukin-9-mediated signaling pathway TAS1376929


    IL9R for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    IL9R for compounds           About GeneDecksing

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

    Browse Tocris compounds for IL9R
    1 Novoseek chemical compound relationship for IL9R gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloride 31.5 2 15218996 (1), 12782818 (1)

    Search CenterWatch for drugs/clinical trials and news about IL9R 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for IL9R gene (2 alternative transcripts): 
    NM_002186.2  NM_176786.1  

    Unigene Cluster for IL9R:

    Interleukin 9 receptor
    Hs.406228  [show with all ESTs]
    Unigene Representative Sequence: NM_176786
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000244174 ENST00000369423 ENST00000489233 ENST00000483543 ENST00000494962
    ENST00000540897 ENST00000424344(uc010nvn.2 uc004fnu.1 uc004fnv.1)


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    Additional cDNA sequence: 

    AK303178.1 BC025298.1 M84747.1 S71404.1 

    9 DOTS entries:

    DT.121282321  DT.97841253  DT.110524  DT.97822160  DT.120651945  DT.121282324  DT.110525  DT.120682190 
    DT.121282323 

    24/37 AceView cDNA sequences (see all 37):

    NM_176786 BQ058962 NM_002186 BC025298 BC051337 BQ063826 S71404 BV199140 
    BQ062323 AA353849 BQ064927 BQ643250 AA354569 BQ642408 BI261351 AA354570 
    BQ055765 BQ064101 M84747 AA309865 BQ065808 BQ057582 BQ065789 BI261391 

    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

    IL9R expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See IL9R Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IL9R

    SOURCE GeneReport for Unigene cluster: Hs.406228
        SABiosciences Expression via Pathway-Focused PCR Arrays including IL9R: 
              Interferons & Receptors in human mouse rat
              Inflammatory Cytokines & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL9R

    (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 IL9R 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 Il9r1 interleukin 9 receptor 74.48(n)
    61.61(a)
      16199  NM_001134458.1  NP_001127930.1 
    chicken
    (Gallus gallus)
    Aves IL9R6
    Uncharacterized protein
    30(a)
    1 ↔ 1
    14(7381016-7383771)
    lizard
    (Anolis carolinensis)
    Reptilia IL9R6
    --
    30(a)
    1 ↔ 1
    GL343612.1(207552-210408)


    ENSEMBL Gene Tree for IL9R (if available)
    TreeFam Gene Tree for IL9R (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IL9R gene

    IL9R for paralogs           About GeneDecksing


    5/8 Pseudogenes.org Pseudogenes for IL9R (see all 8)
    PGOHUM00000258453 PGOHUM00000239621 PGOHUM00000248690 PGOHUM00000258045 PGOHUM00000234829


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 13 variations for IL9R
         13 CNVs: 74093 83891 83890 83985 83892 97138 83893 83889 97246 97140 83888 83986 97141
    Human Gene Mutation Database (HGMD): IL9R

    Locus Specific Mutation Databases (LSDB): IL9R
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    IL9R for disorders           About GeneDecksing

    OMIM gene information: 300007    OMIM disorders: --

    20/24 diseases for IL9R (see all 24):    About MalaCards
    interleukin-7 receptor alpha deficiency    diffuse large b-cell lymphoma    asthma    b-cell lymphomas
    severe combined immunodeficiency    x inactivation    combined immunodeficiency    cystic fibrosis
    adult t-cell leukemia    bronchitis    atopic dermatitis    acute lymphoblastic leukemia
    lymphoblastic leukemia    bronchiolitis    cblc    hodgkin's lymphoma
    t-cell leukemia    rheumatoid arthritis    dermatitis    fibrosis

    4 Novoseek disease relationships for IL9R gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    asthma 43.3 5 11039580 (2), 10629460 (1), 9782093 (1), 11160343 (1)
    airways disease 36.7 1 15218996 (1)
    bronchitis chronic 35.5 1 10629460 (1)
    cystic fibrosis 9.19 9 12782818 (4), 15218996 (1)

    Genetic Association Database (GAD): IL9R
    Human Genome Epidemiology (HuGE) Navigator: IL9R (13 documents)

    Export disorders for IL9R 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 IL9R gene, integrated from 9 sources (see all 71):
    (articles sorted by number of sources associating them with IL9R)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The IL-9 receptor gene (IL9R): genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of the sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter. (PubMed id 8666384)1, 2, 3, 9 Kermouni A....Higgs D.R. (1995)
    2. Expression cloning of the murine and human interleukin 9 receptor cDNAs. (PubMed id 1376929)1, 2, 3 Renauld J.-C.... van Snick J. (1992)
    3. The IL9R region contribution in asthma is supported by genetic association in an isolated population. (PubMed id 11039580)1, 4, 9 Kauppi P....Kere J. (2000)
    4. Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. (PubMed id 10655549)1, 2 Ciccodicola A.... D'Urso M. (2000)
    5. Isolation and characterization of the human interleukin-9 receptor gene. (PubMed id 8193355)1, 2 Chang M.S.... McNinch J. (1994)
    6. The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y. (PubMed id 9002663)1, 9 Vermeesch J.R....Marynen P. (1997)
    7. T(H)2 cytokines modulate the IL-9R expression on human neutrophils. (PubMed id 19401191)1, 9 Dragon S....Gounni A.S. (2009)
    8. Interaction between variants in the interleukin-4 receptor alpha and interleukin-9 receptor genes in childhood wheezing: evidence from a birth cohort study. (PubMed id 17083349)1, 9 Melen E....Kere J. (2006)
    9. Human bronchial epithelium expresses interleukin-9 receptors and releases neutrophil chemotactic factor. (PubMed id 11868823)1, 9 Tsukadaira A....Nakazawa K. (2002)
    10. Functional expression of IL-9 receptor by human neutrophils from asthmatic donors: role in IL-8 release. (PubMed id 11160343)1, 9 Abdelilah S....Hamid Q. (2001)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3581 HGNC: 6030 AceView: IL9R Ensembl:ENSG00000124334 euGenes: HUgn3581
    ECgene: IL9R Kegg: 3581 H-InvDB: IL9R

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for IL9R Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/il9r/

    (Patent information from GeneIP,
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    Patent Information for IL9R gene:
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