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FLASH GENE
Symbol EDA2R contributors: mct/pgu - updated : 22-10-2009
HGNC name ectodysplasin A2 receptor
HGNC id 17756
Location Xq12      Physical location : 65.815.482 - 65.835.873
Synonym name
  • tumor necrosis factor receptor superfamily member 27
  • ectodyplasin receptor, X-linked
  • EDA-A2 receptor
    • Synonym symbol(s) XEDAR, EDA-A2R, EDAA2R, TNFRSF27
    DNA
    TYPE functioning gene
    STRUCTURE 20.40 kb     6 Exon(s)
    regulatory sequence Promoter
    text structure binding sites for TP53
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3385 - 297 - 2002 12270937
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skin/Tegumentskin appendageshairfollicle  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three cys-rich repeats
  • one single transmembrane domain
    • HOMOLOGY
    interspecies homolog to murine Eda2r (80.4pc)
    homolog to rattus Eda2r (79.7pc)
    intraspecies paralog to EDAR
    Homologene
    FAMILY
    CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • activates the NF-kappaB and JNK pathways in an EDA dependent fashion
  • negatively regulating FAK
  • putative tumor suppressor that could prevent malignant transformation and tumor progression by regulating apoptosis and anoikis
  • may be involved in male pattern baldness
  • inducing apoptosis, dependent of caspase 8 activation
  • mediating the activation of NF-Kappa B and JNK pathways
    • CELLULAR PROCESS cell life, differentiation
    cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding TNF-receptor associated factors TRAF1, TRAF3, TRAF6
  • ectodysplasin EDA-A2 receptor
    • cell & other
    REGULATION
    inhibited by CYLD
    Other upregulated by TP53
  • promoter hypermethylated in colorectal cancer cell lines
    • ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • associated with androgenetic alopecia (Prodi 2008)
    • Marker
    Therapy target
    ANIMAL & CELL MODELS