Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol IL7R contributors: mct - updated : 23-03-2020
HGNC name interleukin 7 receptor
HGNC id 6024
Corresponding disease
SCIDTL severe combined immunodeficiency, lacking T lymphocytes
Location 5p13.2      Physical location : 35.856.990 - 35.876.921
Synonym name
  • CD127 antigen
  • interleukin 7 receptor alpha chain
  • Synonym symbol(s) CD127, CDW127, IL-7R-alpha, IL7RA, ILRA
    DNA
    TYPE functioning gene
    STRUCTURE 22.71 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    text structure
  • methylation of promoter could be a potential target for modifying IL-7-mediated T cell development and survival
  • CpG sites in the IL7R promoter were hypermethylated in Schimke immuno-osseous dysplasia (SIOD) T cells
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text with an alternatively spliced secreted form
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 4584 49.5 459 - 2019 30377306
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Lymphoid/Immunelymph node   highly
     spleen   highly
     thymus   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a ligand binding domain
  • the cytokine receptor-like domain containing cysteine residues
  • a WSXWS motif
  • HOMOLOGY
    Homologene
    FAMILY
  • type I cytokine receptor family
  • type 4 subfamily
  • CATEGORY signaling cytokine , receptor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text type I transmembrane protein
    basic FUNCTION
  • play a critical role in the V(D)J recombination during lymphocyte development
  • playing a necessary but not sufficient role for the formation of memory CD8 T cells during viral infection
  • IL7 and IL7R are essential for normal T-cell development and homeostasis
  • IL7R–mediated signaling plays an active role in the T-cell leukemogenic process
  • IL-7R differentially controls development and maturation of thymocyte subpopulations in late developmental stages (pMID: 23267098)
  • activated IL7 receptors embedded in membrane microdomains induce actin-microfilament meshwork formation, anchoring microtubules that grow radially from rafted receptors to the nuclear membrane
  • IL7R Tyr(449) was essential for IL7R signaling in bone marrow B cell development and survival
  • plays critical roles in lymphocyte development and homeostasis
  • importance of IL7R mediated signals for normal human B-cell production
  • IL7/IL7R are essential for normal T-cell development and homeostasis, whereas excessive IL7/IL7Receptor-mediated signaling promotes leukemogenesis
  • induction of IL7R expression on Dendritic cells is critical for Thymic stromal lymphopoietin (TSLP) responsiveness and IL4 can upregulate IL7R on Dendritics cells
  • Il7R-dependent cells are likely required to set up the microenvironments that allow accumulation of thymic Dendritic cells (PMIDS:
  • is essential for leukemia-initiating cell activity of T-cell acute lymphoblastic leukemia
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • IL7R signaling pathway may play a role in the autoimmune process in Neuromyelitis optica (NMO) (pMID: 30248528)
  • a component
  • heterodimeric complex consisting of the IL-7Ralpha and common interleukin-2 receptor gamma (IL-2Rgamma(c)) chains
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EFNB1 and EFNB2 interacted physically with IL7R
  • novel function of EFNB1 and EFNB2 in stabilizing IL7R expression at the post-translational level
  • IL7R is a transcriptional target of NOTCH1
  • CPSF1 interaction with intronic IL7R pre-mRNA interferes likely with spliceosome binding to the exon 6 5' splice site
  • soluble IL7R potentiates IL7 bioactivity
  • GATA3 plays parallel roles in regulating the development and functions of CD4(+) T cells and IL7R Innate lymphoid cells (ILCs)
  • ZFAT is required for peripheral T-cell homeostasis through IL7R expression by controlling the FOXO1 protein
  • SH2B3 suppresses IL7R/JAK/STAT signaling to restrict pro-/pre-B progenitor expansion and leukemia development
  • casein kinase 2 is a major player in the effects of IL7 and IL7R in T-cell acute lymphoblastic leukemia
  • IL7R function is essential for NOTCH1-induced T-cell leukemogenesis
  • cell & other
    REGULATION
    Other an enhancer of the IL7R controls IL7R expression and maintenance of peripheral T cells
    ASSOCIATED DISORDERS
    corresponding disease(s) SCIDTL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    on all antigen-specific effector CD8 T cells during viral infection
    tumoral somatic mutation     gain of function
    in T-cell acute lymphoblastic leukemia (T-ALL)
    constitutional somatic mutation     loss of function
    associated to immunodeficiency
    constitutional     --low  
    in Neuromyelitis optica (NMO)
    Susceptibility
  • to multiple sclerosis (MS)
  • to Ulcerative colitis
  • Variant & Polymorphism SNP , other
  • SNP, rs6897932, located within the alternatively spliced exon 6 of IL7R, significantly associated with multiple sclerosis
  • significant association between the IL7R T244I polymorphism and MS
  • polymorphisms in IL7R, which had the largest coefficient, are associated with Ulcerative colitis susceptibility (
  • Candidate gene
    Marker
    Therapy target
  • useful therapeutic target in primary progressive course from the onset (PPMS)form of multiple sclerosis
  • expression of functional IL7R on epithelial tumour cells may represent a potential target for receptor-directed therapy
  • ANIMAL & CELL MODELS