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    IL7R interleukin 7 receptor [ Homo sapiens (human) ]

    Gene ID: 3575, updated on 11-Jun-2021

    Summary

    Official Symbol
    IL7Rprovided by HGNC
    Official Full Name
    interleukin 7 receptorprovided by HGNC
    Primary source
    HGNC:HGNC:6024
    See related
    Ensembl:ENSG00000168685 MIM:146661
    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
    ILRA; CD127; IL7RA; CDW127; IL-7R-alpha
    Summary
    The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]
    Expression
    Biased expression in appendix (RPKM 75.5), lymph node (RPKM 68.1) and 10 other tissues See more
    Orthologs
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    Genomic context

    See IL7R in Genome Data Viewer
    Location:
    5p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (35856891..35879603)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (35856993..35879705)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene prolactin receptor Neighboring gene RNA, U7 small nuclear 130 pseudogene Neighboring gene uncharacterized LOC105374724 Neighboring gene sperm flagellar 2 Neighboring gene Sharpr-MPRA regulatory region 7574 Neighboring gene uncharacterized LOC100506406 Neighboring gene calcyphosine like

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    GeneReviews: Not available
    Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
    GeneReviews: Not available
    Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
    GeneReviews: Not available
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    GeneReviews: Not available
    Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
    GeneReviews: Not available
    Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data.
    GeneReviews: Not available
    Risk alleles for multiple sclerosis identified by a genomewide study.
    GeneReviews: Not available
    Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
    GeneReviews: Not available
    Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
    MedGen: C1837028 OMIM: 608971 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat interacts with IL7R and is dependent on first 10 N-terminal residues or residues 17-21 in CD8+ T cells; substitution of first 10 N-terminal residues or deletion of residues 17-21 prevented Tat from interacting with and downregulating IL7R PubMed
    tat HIV-1 Tat increases ubiquitination of IL7R and is dependent on E3 ubiquitin ligases PubMed
    tat HIV-1 Tat downregulates IL7R and is dependent on Tat basic region; deletion of the basic region prevented Tat from downregulating IL7R (causing IL7R accumulation at the CD8+ cell surface) but DOES NOT prevent binding interaction PubMed
    tat HIV-1 Tat downregulates cell surface expression of IL-7R on human CD4 or CD8 T-cells in a dose- and time-dependent manner PubMed
    tat HIV-1 Tat-mediated degradation of IL-7R alpha-chain (CD127) from the surface of resting CD8 T cells leads to reduced IL-7 signaling and to impaired CD8 T cell proliferation and function PubMed
    tat HIV-1 Tat inhibits the effects of IL-7 on activation of CD8 T-cells signaling via IL-7R PubMed
    tat HIV-1 Tat upregulates the expression of IL-7R in human macrophages, which leads to the enhancement of HIV-1 replication PubMed
    tat HIV-1 Tat and IL-7 act synergistically to downregulate CD127 on CD8+ T cells. Downregulation of CD127 by IL-7 requires JAK activation pathway PubMed
    Vif vif HIV-1 Vif upregulates the expression of interleukin 7 receptor (IL7R) in Vif-expression T cells 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
    enables antigen binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables cytokine receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables interleukin-7 receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in B cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in defense response to Gram-positive bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homeostasis of number of cells IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in interleukin-7-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in lymph node development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membrane organization TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of T cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of T cell mediated cytotoxicity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of receptor signaling pathway via STAT IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA recombination TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell size IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    interleukin-7 receptor subunit alpha
    Names
    CD127 antigen
    IL-7 receptor subunit alpha
    IL-7R subunit alpha
    interleukin 7 receptor alpha chain

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009567.1 RefSeqGene

      Range
      4987..26934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_74

    mRNA and Protein(s)

    1. NM_002185.5NP_002176.2  interleukin-7 receptor subunit alpha precursor

      See identical proteins and their annotated locations for NP_002176.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AC112204, AF373204, BC020717, BC067540
      Consensus CDS
      CCDS3911.1
      UniProtKB/Swiss-Prot
      P16871
      Related
      ENSP00000306157.3, ENST00000303115.8
      Conserved Domains (1) summary
      pfam00041
      Location:131218
      fn3; Fibronectin type III domain

    RNA

    1. NR_120485.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two consecutive exons in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC112204, AF373204, FJ529208

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      35856891..35879603
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248299.4XP_005248356.1  interleukin-7 receptor subunit alpha isoform X1

      See identical proteins and their annotated locations for XP_005248356.1

      Related
      ENSP00000421207.1, ENST00000506850.5
      Conserved Domains (1) summary
      pfam00041
      Location:131218
      fn3; Fibronectin type III domain
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