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    IL9R interleukin 9 receptor [ Homo sapiens (human) ]

    Gene ID: 3581, updated on 12-Aug-2018

    Summary

    Official Symbol
    IL9Rprovided by HGNC
    Official Full Name
    interleukin 9 receptorprovided by HGNC
    Primary source
    HGNC:HGNC:6030
    See related
    Ensembl:ENSG00000124334 MIM:300007; Vega:OTTHUMG00000022720
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CD129; IL-9R
    Summary
    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]
    Expression
    Biased expression in urinary bladder (RPKM 2.4), lymph node (RPKM 1.3) and 11 other tissues See more
    Orthologs

    Genomic context

    See IL9R in Genome Data Viewer
    Location:
    Xq28 and Yq12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (155997581..156013017)
    109 current GRCh38.p12 (GCF_000001405.38) Y NC_000024.10 (57184101..57199537)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (155227246..155240482)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (59330252..59343488)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene elongin C pseudogene 24 Neighboring gene transient receptor potential cation channel subfamily C member 6, pseudogene Neighboring gene WASH and IL9R antisense RNA 1 Neighboring gene WAS protein family homolog 6, pseudogene Neighboring gene DEAD/H-box helicase 11 like 16

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene elongin C pseudogene 24 Neighboring gene transient receptor potential cation channel subfamily C member 6, pseudogene Neighboring gene WASH and IL9R antisense RNA 1 Neighboring gene WAS protein family homolog 6, pseudogene Neighboring gene DEAD/H-box helicase 11 like 16

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV Vif interacts with IL9R PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
      Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hematopoietic cell lineage, conserved biosystem (from KEGG)
      Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • IL-9 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-9 Signaling Pathway, organism-specific biosystemIL-9 is a multifunctional cytokine, belong to a family of cytokines. IL-9 was initially reported as a T cell growth factor in mice. It is now known to target multiple cell types. It plays an importan...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
      Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
      Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    interleukin-9 receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    interleukin-9-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular space TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    interleukin-9 receptor
    Names
    IL-9 receptor

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013238.1 RefSeqGene

      Range
      5001..18237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002186.2NP_002177.2  interleukin-9 receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_002177.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC025298, M84747
      Consensus CDS
      CCDS14771.4
      UniProtKB/Swiss-Prot
      Q01113
      Related
      ENSP00000244174.5, OTTHUMP00000024332, ENST00000244174.10, OTTHUMT00000058981
    2. NM_176786.1NP_789743.2  interleukin-9 receptor isoform 2

      See identical proteins and their annotated locations for NP_789743.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple coding region differences, compared to variant 1, one of which results in a frameshift. it initiates translation at an alternate start codon. The resulting isoform (2) has distinct N- and C-termini and is shorter than isoform 1.
      Source sequence(s)
      AJ271736, BC025298
      Consensus CDS
      CCDS59180.1
      UniProtKB/Swiss-Prot
      Q01113
      Related
      ENSP00000358431.2, OTTHUMP00000024331, ENST00000369423.7, OTTHUMT00000058980

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      155997581..156013017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029504.1XP_016884993.1  interleukin-9 receptor isoform X12

    2. XM_017029500.1XP_016884989.1  interleukin-9 receptor isoform X6

    3. XM_017029496.1XP_016884985.1  interleukin-9 receptor isoform X4

    4. XM_011531155.2XP_011529457.1  interleukin-9 receptor isoform X7

      See identical proteins and their annotated locations for XP_011529457.1

    5. XM_017029505.1XP_016884994.1  interleukin-9 receptor isoform X13

    6. XM_011531156.2XP_011529458.1  interleukin-9 receptor isoform X8

      See identical proteins and their annotated locations for XP_011529458.1

    7. XM_011531157.2XP_011529459.1  interleukin-9 receptor isoform X14

      See identical proteins and their annotated locations for XP_011529459.1

    8. XM_017029501.1XP_016884990.1  interleukin-9 receptor isoform X9

    9. XM_017029495.1XP_016884984.1  interleukin-9 receptor isoform X2

    10. XM_011531151.2XP_011529453.1  interleukin-9 receptor isoform X1

      See identical proteins and their annotated locations for XP_011529453.1

    11. XM_011531152.2XP_011529454.1  interleukin-9 receptor isoform X3

      See identical proteins and their annotated locations for XP_011529454.1

    12. XM_017029502.1XP_016884991.1  interleukin-9 receptor isoform X10

    13. XM_017029497.1XP_016884986.1  interleukin-9 receptor isoform X5

      UniProtKB/Swiss-Prot
      Q01113
    14. XM_011531154.2XP_011529456.1  interleukin-9 receptor isoform X5

      See identical proteins and their annotated locations for XP_011529456.1

      UniProtKB/Swiss-Prot
      Q01113
    15. XM_017029503.1XP_016884992.1  interleukin-9 receptor isoform X11

    16. XM_017029498.1XP_016884987.1  interleukin-9 receptor isoform X5

      UniProtKB/Swiss-Prot
      Q01113
    17. XM_017029499.1XP_016884988.1  interleukin-9 receptor isoform X5

      UniProtKB/Swiss-Prot
      Q01113
    18. XM_017029506.1XP_016884995.1  interleukin-9 receptor isoform X15

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p12 Primary Assembly

      Range
      57184101..57199537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017030053.1XP_016885542.1  interleukin-9 receptor isoform X12

    2. XM_017030049.1XP_016885538.1  interleukin-9 receptor isoform X6

    3. XM_017030045.1XP_016885534.1  interleukin-9 receptor isoform X4

    4. XM_011545650.2XP_011543952.1  interleukin-9 receptor isoform X7

      See identical proteins and their annotated locations for XP_011543952.1

    5. XM_017030054.1XP_016885543.1  interleukin-9 receptor isoform X13

    6. XM_011545651.2XP_011543953.1  interleukin-9 receptor isoform X8

      See identical proteins and their annotated locations for XP_011543953.1

    7. XM_011545652.2XP_011543954.1  interleukin-9 receptor isoform X14

      See identical proteins and their annotated locations for XP_011543954.1

    8. XM_017030050.1XP_016885539.1  interleukin-9 receptor isoform X9

    9. XM_017030044.1XP_016885533.1  interleukin-9 receptor isoform X2

    10. XM_011545645.2XP_011543947.1  interleukin-9 receptor isoform X1

      See identical proteins and their annotated locations for XP_011543947.1

    11. XM_011545646.2XP_011543948.1  interleukin-9 receptor isoform X3

      See identical proteins and their annotated locations for XP_011543948.1

    12. XM_017030051.1XP_016885540.1  interleukin-9 receptor isoform X10

    13. XM_017030046.1XP_016885535.1  interleukin-9 receptor isoform X5

      UniProtKB/Swiss-Prot
      Q01113
    14. XM_011545649.2XP_011543951.1  interleukin-9 receptor isoform X5

      See identical proteins and their annotated locations for XP_011543951.1

      UniProtKB/Swiss-Prot
      Q01113
    15. XM_017030052.1XP_016885541.1  interleukin-9 receptor isoform X11

    16. XM_017030047.1XP_016885536.1  interleukin-9 receptor isoform X5

      UniProtKB/Swiss-Prot
      Q01113
    17. XM_017030048.1XP_016885537.1  interleukin-9 receptor isoform X5

      UniProtKB/Swiss-Prot
      Q01113
    18. XM_017030055.1XP_016885544.1  interleukin-9 receptor isoform X15

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