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FLASH GENE
Symbol IL2RG contributors: mct/ - updated : 10-04-2006
HGNC name interleukin 2 receptor, gamma
HGNC id 6010
Corresponding disease
SCIDX1 severe combined immunodeficiency, X-linked 1
Location Xq13.1      Physical location : 70.327.253 - 70.331.481
Synonym name
  • CD132 antigen
  • IL-2 receptor subunit gamma
  • common cytokine receptor gamma chain
    • Synonym symbol(s) IMD4, CD132
    DNA
    TYPE functioning gene
    STRUCTURE 4.23 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - DXZ1 - DXS159 - DXS467 - DXS153 - [DXS135 - DXS339 - DXS106 - DXS132 ,DXS732 - DXS453 - DXS348 ],IL2RG - GJB1 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1560 - 369 - -
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Lymphoid/Immunelymph node   moderately
     spleen   moderately
     thymus   highly
     tonsils   highly
    cell lineage in lymphoid and myeloid cell lineages predominantly
    cell lines
    fluid/secretion blood predominantly
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 22 aa signal peptide
  • a fibronectin type III domain containing a WSXWS motif
  • a box 1 motif
    • conjugated GlycoP
    isoforms Precursor a 347 mature peptide of 40 kda
    HOMOLOGY
    interspecies ortholog to rattus Il2rg
    ortholog to murine Il2rg
    Homologene
    FAMILY
  • hematopoietic receptor family
  • type I cytokine receptor family
  • type 5 subfamily
    • CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • single-pass type I transmembrane protein
  • external side of plasma membrane
    • basic FUNCTION
  • interleukin 2, high affinity receptor gamma chain
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • functional component of IL2R, IL4R, IL7R, IL9R, IL15R, IL21R and IL13R (see SCIDX1)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • IL2
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCIDX1
    related resource X-Linked Severe Combined Immunodeficiency SCID
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS