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    IL7 interleukin 7 [ Homo sapiens (human) ]

    Gene ID: 3574, updated on 10-Dec-2024

    Summary

    Official Symbol
    IL7provided by HGNC
    Official Full Name
    interleukin 7provided by HGNC
    Primary source
    HGNC:HGNC:6023
    See related
    Ensembl:ENSG00000104432 MIM:146660; AllianceGenome:HGNC:6023
    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
    IL-7; IMD130
    Summary
    The protein encoded by this gene is a cytokine important for B and T cell development. This cytokine and the hepatocyte growth factor (HGF) form a heterodimer that functions as a pre-pro-B cell growth-stimulating factor. IL7 is found to be a cofactor for V(D)J rearrangement of the T cell receptor beta (TCRB) during early T cell development. This cytokine can be produced locally by intestinal epithelial and epithelial goblet cells, and may serve as a regulatory factor for intestinal mucosal lymphocytes. IL7 plays an essential role in lymphoid cell survival, and in the maintenance of naive and memory T cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their presence in normal tissues has not been confirmed. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can be a potent inducer of proinflammatory cytokines and chemokines which may defend against the infection, but may also mediate destructive lung injury. Elevated serum IL7 levels, together with several other circulating cytokines and chemokines, has been found to be associated with the severity of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Jul 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response.
    Expression
    Broad expression in lymph node (RPKM 2.7), skin (RPKM 2.5) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See IL7 in Genome Data Viewer
    Location:
    8q21.13
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (78675044..78805463, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (79106579..79236843, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (79645007..79717698, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375911 Neighboring gene RNA, U6 small nuclear 1220, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:79350973-79351621 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:79357423-79358019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27545 Neighboring gene PKIA antisense RNA 1 Neighboring gene cAMP-dependent protein kinase inhibitor alpha Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:79577447-79577955 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:79577956-79578463 Neighboring gene zinc finger C2HC-type containing 1A Neighboring gene C4orf46 pseudogene 3 Neighboring gene THAP domain containing 12 pseudogene 7 Neighboring gene MPRA-validated peak7081 silencer Neighboring gene metabolism induced tumor activator 1 Neighboring gene long intergenic non-protein coding RNA 2605 Neighboring gene uncharacterized LOC105375912 Neighboring gene NANOG hESC enhancer GRCh37_chr8:79819781-79820282 Neighboring gene uncharacterized LOC105375913

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Epidermodysplasia verruciformis, susceptibility to, 5
    MedGen: C4749043 OMIM: 618309 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Clinical samples of cerebrospinal fluid from patients infected with HIV-1 subtypes B and C exhibited upregulated levels of IL7, IL10, CXCL10 (IP10), CCL2 (MCP1), and CCL3 (MIP1A) PubMed
    HIV-1 replication in resting peripheral blood CD4 T cells is rescued by IL7; IL7 rescues resting peripheral blood CD4 T cells from HIV-1-induced T cell death PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120-induced neuronal apoptosis is augmented by IL-7 PubMed
    Envelope surface glycoprotein gp160, precursor env IL-7-treated resting CD4+ T cells produce more Env protein than untreated cells PubMed
    env IL-7 and IL-12 significantly augment proliferative responses to HIV-1 gp160 PubMed
    Pr55(Gag) gag IL-7-treated resting CD4+ T cells produce more HIV-1 Gag protein than untreated cells PubMed
    Tat tat HIV-1 Tat inhibits IL7-induced upregulation of BCL-2 in CD4 T-cells PubMed
    tat HIV-1 Tat inhibits the effects of IL-7 on activation of CD8 T-cells signaling via IL-7R PubMed
    tat Upregulation of intracellular perforin accumulation by IL-7 in CD4 or CD8 T-cells is inhibited by HIV-1 Tat 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 and IL-7 act synergistically to downregulate CD127 on CD8+ T cells. Downregulation of CD127 by IL-7 requires JAK activation pathway PubMed
    capsid gag Unactivated memory CD4+ T cells infected by HIV-1 in the presence of IL-2 and IL-15 alone or IL-6/IL-7/TNF-alpha combination, upregulate granzyme B and HIV-1 CA production PubMed
    integrase gag-pol IL-7 and CD95 synergistically promote survival and proliferation of HIV-1-latently infected CD4+ T-cells measured by increased levels of integrated HIV-1 DNA, suggesting that HIV-1 IN interacts with IL-7 and CD95 in latently infected CD4+ T-cells PubMed
    gag-pol Treatment of resting CD4+ T cells with cytokines IL-2, IL-4, IL-7, or IL15 enhances HIV-1 IN mutant D116N to generate de novo virus production 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables growth factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables interleukin-7 receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 lineage commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in bone resorption ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cytokine-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in extrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in humoral immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in interleukin-7-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of B cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of chemokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cytokine-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of organ growth IEA
    Inferred from Electronic Annotation
    more info
     

    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.

    mRNA and Protein(s)

    1. NM_000880.4NP_000871.1  interleukin-7 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000871.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK291538, BC047698, J04156
      Consensus CDS
      CCDS6224.1
      UniProtKB/Swiss-Prot
      A0N0L3, P13232, Q5FBY5, Q5FBY9
      UniProtKB/TrEMBL
      A8K673
      Related
      ENSP00000263851.4, ENST00000263851.9
      Conserved Domains (1) summary
      smart00127
      Location:27173
      IL7; Interleukin-7 and interleukin-9 family
    2. NM_001199886.2NP_001186815.1  interleukin-7 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001186815.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1, which results in a shorter isoform (2) compared to isoform 1.
      Source sequence(s)
      AB102879, AK291538, BC047698
      Consensus CDS
      CCDS56541.1
      UniProtKB/Swiss-Prot
      P13232
      UniProtKB/TrEMBL
      A8K673
      Related
      ENSP00000427750.1, ENST00000520269.5
      Conserved Domains (1) summary
      cl11602
      Location:27129
      IL7; Interleukin 7/9 family
    3. NM_001199887.2NP_001186816.1  interleukin-7 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001186816.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 1, which results in a shorter isoform (3) compared to isoform 1.
      Source sequence(s)
      AK291538, BC047698, CD013923
      Consensus CDS
      CCDS75756.1
      UniProtKB/TrEMBL
      A0A0A0MTG5, A8K673
      Related
      ENSP00000438922.2, ENST00000541183.2
      Conserved Domains (1) summary
      cl11602
      Location:27155
      IL7; Interleukin 7/9 family
    4. NM_001199888.2NP_001186817.1  interleukin-7 isoform 4 precursor

      See identical proteins and their annotated locations for NP_001186817.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks multiple in-frame exons in the 3' coding region, compared to variant 1, which result in a shorter isoform (4) compared to isoform 1.
      Source sequence(s)
      AB102893, AK291538, BC047698
      Consensus CDS
      CCDS75755.1
      UniProtKB/TrEMBL
      Q5FBX5
      Related
      ENSP00000368408.3, ENST00000379113.6
      Conserved Domains (1) summary
      cl11602
      Location:27111
      IL7; Interleukin 7/9 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      78675044..78805463 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517523.4XP_011515825.1  interleukin-7 isoform X2

      Conserved Domains (1) summary
      cl11602
      Location:27138
      IL7; Interleukin 7/9 family
    2. XM_011517522.4XP_011515824.1  interleukin-7 isoform X1

      Conserved Domains (1) summary
      cl11602
      Location:27138
      IL7; Interleukin 7/9 family
    3. XM_047421768.1XP_047277724.1  interleukin-7 isoform X3

      UniProtKB/TrEMBL
      D0EYG7
    4. XM_047421767.1XP_047277723.1  interleukin-7 isoform X3

      UniProtKB/TrEMBL
      D0EYG7
    5. XM_047421765.1XP_047277721.1  interleukin-7 isoform X3

      UniProtKB/TrEMBL
      D0EYG7
    6. XM_047421766.1XP_047277722.1  interleukin-7 isoform X3

      UniProtKB/TrEMBL
      D0EYG7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      79106579..79236843 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360438.1XP_054216413.1  interleukin-7 isoform X2

    2. XM_054360437.1XP_054216412.1  interleukin-7 isoform X1

    3. XM_054360439.1XP_054216414.1  interleukin-7 isoform X3

      UniProtKB/TrEMBL
      D0EYG7