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FLASH GENE
Symbol IL7R contributors: mct - updated : 24-10-2012
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 19.93 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure methylation of promoter could be a potential target for modifying IL-7-mediated T cell development and survival
    MAPPING cloned Y linked N status provisional
    Physical map
    TARS 5p13.3-p13.2 threonyl-tRNA synthetase LOC389279 5 similar to RPE-spondin LOC391776 5 similar to Probable mitochondrial import receptor subunit TOM40 homolog (Translocase of outer membrane 40 kDa subunit homolog) (Haymaker protein) (p38.5) ADAMTS12 5q35 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12 SALPR 5p15.1-p14 G-protein coupled receptor SALPR MATP 5p13.3 membrane associated transporter protein AMACR 5p13.3-p12 alpha-methylacyl-CoA racemase C1QTNF3 5p13-p12 C1q and tumor necrosis factor related protein 3 LOC389280 5 similar to SMA3 protein LOC389281 5 similar to bA110H4.2 (similar to membrane protein) RAI14 5p13.3-p13.2 retinoic acid induced 14 FLJ25439 5p13.3 hypothetical protein FLJ25439 RAD1 5p13.3-p13.2 RAD1 homolog (S. pombe) BRIX 5p13.3 BRIX LOC134218 5p13.3 hypothetical protein LOC134218 AGXT2 5p13 alanine-glyoxylate aminotransferase 2 PRLR 5p14-p13.3 prolactin receptor LOC389282 5 similar to RIKEN cDNA C230086A09 gene FLJ23577 5p13.2 hypothetical protein FLJ23577 IL7R 5p13 interleukin 7 receptor MGC26610 5p13.2 hypothetical protein MGC26610 FLJ34658 5p13.2 hypothetical protein FLJ34658 LOC167127 5p13.2 hypothetical protein LOC167127 DKFZp434H2226 5p13.2 hypothetical protein DKFZp434H2226 SKP2 5p13 S-phase kinase-associated protein 2 (p45) FLJ30596 5p13.2 hypothetical protein FLJ30596 FLJ25422 5p13.2 hypothetical protein FLJ25422 SLC1A3 5p13 solute carrier family 1 (glial high affinity glutamate transporter), member 3 LOC345513 5p13.2 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) IDN3 5p13.2 IDN3 protein LOC391777 5 similar to ribosomal protein S4, X-linked FLJ13231 5p13.2 hypothetical protein FLJ13231 LOC389283 5 LOC389283 OFD1P1 5p13 oral-facial-digital syndrome 1, pseudogene 1 NUP155 5p13 nucleoporin 155kDa FLJ10233 5p13.2 hypothetical protein FLJ10233 GDNF 5p13-p12 glial cell derived neurotrophic factor FLJ39155 5p13.2 hypothetical protein FLJ39155
    RNA
    TRANSCRIPTS type messenger
    text with an alternatively spliced secreted form
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1809 49.5 459 - Pleiman (1991)
    EXPRESSION
    Type widely
    constitutive of
       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     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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    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
    cell & other
    REGULATION
    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)
    Susceptibility to multiple sclerosis
    Variant & Polymorphism SNP SNP, rs6897932, located within the alternatively spliced exon 6 of IL7R, significantly associated with multiple sclerosis
    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