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    IL9R interleukin 9 receptor [ Homo sapiens (human) ]

    Gene ID: 3581, updated on 21-Dec-2019

    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
    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
    109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (155997631..156013017)
    109.20191205 current GRCh38.p13 (GCF_000001405.39) Y NC_000024.10 (57184151..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 WASP family homolog 6, pseudogene Neighboring gene DEAD/H-box helicase 11 like 16 (pseudogene)

    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 WASP family homolog 6, pseudogene Neighboring gene DEAD/H-box helicase 11 like 16 (pseudogene)

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What'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 PubChem

    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
    interleukin-9-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    regulation of cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    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
      5116..18237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002186.3NP_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, ENST00000244174.10
    2. NM_176786.2NP_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, ENST00000369423.7

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      155997631..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.p13 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p13 Primary Assembly

      Range
      57184151..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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