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FLASH GENE
Symbol CSF2RA contributors: SGE/npt - updated : 15-03-2010
HGNC name colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
HGNC id 2435
Location Xp22.33      Physical location : 1.337.692 - 1.428.828
Synonym name
  • CD116 antigen
  • granulocyte-macrophage colony-stimulating factor receptor alpha chain
  • Synonym symbol(s) GMRX, CSF2R, CD116, GMCSFR, GM-CSF-R-alpha, CSF2RAX, MGC3848, MGC4838
    DNA
    TYPE functioning gene
    STRUCTURE 41.12 kb     13 Exon(s)
    text structure no TATA box, a purine-rich stretch, 30bp upstream initiation site
    MAPPING cloned Y linked   status provisional
    Map see IL3RAX
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 1983 - 400 - -
  • isoform a
  • precursor
  • 13 - 1855 46.2 400 - Hu, Crosier
  • isoform a
  • precursor
  • 13 splicing 1831 46.2 400 - Hu, Crosier
  • differing in the 5' UTR
  • isoform a
  • precursor
  • 11 splicing 1676 - 377 secreted Hu, Crosier
  • lacking two alternate exons, which causes a frameshift, which is likely soluble
  • isoform b
  • precursor
  • 10 - 1590 37 333 secreted Crosier
  • lacking an alternate exon, which causes a frameshift, which is likely soluble, is shorter and has a distinct C-terminus
  • isoform c
  • precursor
  • 9 - 1458 - 233 secreted Crosier
  • lacking four alternate exons
  • isoform e
  • precursor
  • - - 1789 - 434 - -
  • isoform f
  • precursor
  • - - 1510 - 410 - -
  • isoform g
  • precursor
  • - - 1624 - 267 - -
  • isoform h
  • precursor
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticgranulocyte
    Lymphoid/Immunemacrophage
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • cytokine receptor-like domains
  • cysteine residues and a consensus WSXWS motif (necessary for proper protein folding and thereby efficient intracellular transport and cell surface receptor binding)
  • an Ig-like domain, playing a critical role in cytokine binding and receptor activation (Mirza 2010)
  • conjugated GlycoP
    mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • type I cytokine receptor family
  • type 5 subfamily
  • CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • directly intervening in the activation of JAK2 and STAT5 (JAK/STAT pathway)
  • colony-stimulating factor (CSF2) receptor
  • receptor for cytokine, transducing a signal that results in the proliferation, differentiation and functional activation of hematopoietic cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • dimerizing with CSF2RB
  • formation of dodecamer or higher-order complex is required for receptor activation and signaling (Hansen 2008)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • mutations in CSF2RA can cause familial pulmonary alveolar proteinosis (Suzuki, Martinez-Moczygemba 2008)
  • Marker
    Therapy target
    ANIMAL & CELL MODELS