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FLASH GENE
Symbol CNTFR contributors: mct - updated : 08-06-2011
HGNC name ciliary neurotrophic factor receptor
HGNC id 2170
Location 9p13.3      Physical location : 34.551.430 - 34.589.722
Synonym name
  • CNTFR alpha
  • ciliary neurotrophic factor receptor alpha precursor
  • Synonym symbol(s) MGC1774, CNTFRA
    DNA
    TYPE functioning gene
    STRUCTURE 38.30 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map pter - (D9S1748 , D9S1752 ) - CDKN2A - D9S942 - D9S966 - CNTFR - D9S962 - D9S171 - (D9S265 , D9S126 ) - D9S1679 - (D9S236 , D9S259 , D9S965 ) - D9S169 - (D9S161 , D9S964 ) - D9S263 - D9S270 - (D9S104 , D9S1678 ) - D9S319 - D9S52 - D9S43 - D9S304 - cen
    Authors Bousyk (97)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2055 - 372 - 2004 15272019
    9 - 1944 - 372 - 2004 15272019
    - - 1946 - 372 - 2004 15272019
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus    
    Nervousbrain    
    Reproductivemale systemtestis   
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one immunoglobulin-like C2 type domain
  • a cytokine binding domain (CBD) with two fibronectin III domains linked by a proline-rich sequence :
  • N-terminal fibronectin III domain of the CBD characterized by two conserved disulfide bridges
  • C-terminal fibronectin III domain of the CBD with a conserved WSXWS motif (WSXWS motif necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding)
  • mono polymer heteromer , trimer
    HOMOLOGY
    interspecies homolog to murine Cntfr
    Homologene
    FAMILY class I hematopoietin receptor family
    CATEGORY signaling cytokine , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • attached to the membrane by a glycosyl-phosphatidylinositol linkage
  • cell membrane, lipid-anchor
  • basic FUNCTION
  • hematopoeitin/interferon-class receptor, inducing the secretion and required for functional responses to cardiotrophin-like cytokine
  • both CNTFR and IL27RA may be involved in MTRNR2L1 binding to cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • quaternary cytokine receptor complex consisting of IL6ST, LIFR, the cytokine Ciliary Neurotrophic Factor (CNTF), and its alpha receptor (CNTFRA)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds to CNTF (the alpha chain provides the receptor specificity)
  • binds to a second ligand that is important for development, CLCF1-CNTFR activates gp130, LIFR and STAT3 signaling components, and enhances motor neuron survival
  • MTRNR2L1 inhibits neuronal cell death and dysfunction by binding to a novel IL6-receptor-related receptor(s) on the cell surface involving CNTFR, IL27RA, and IL6ST
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by promoter methylation in colorectal cancer patients
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS