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FLASH GENE
Symbol EDARADD contributors: mct - updated : 31-08-2011
HGNC name EDAR-associated death domain
HGNC id 14341
Corresponding disease
HEDAD ectodermal dysplasia, anhidrotic
Location 1q42.3      Physical location : 236.557.679 - 236.648.008
Synonym name
  • ectodysplasin A receptor associated adapter protein
  • crinkled homolog
  • Synonym symbol(s) EDAD
    DNA
    TYPE functioning gene
    STRUCTURE 90.33 kb     6 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 splicing 2891 236 205 - 2002 11882293
    6 splicing 2772 24.8 215 - 2002 11882293
    EDARADD variant A
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivetooth    
    Reproductivefemale systemuteruscervix  
    Skin/Tegumentskin    
     skin appendageshair   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    Muscularstriatumskeletal  
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
     epithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal, pregnancy
    Text placenta, developing skin, hair follicle
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal region comprising the TRAF interaction consensus sequence
  • a C terminal DEATH domain
  • HOMOLOGY
    interspecies homolog to murine Edaradd
    Homologene
    FAMILY enolase family
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    text coexpressed with EDAR
    basic FUNCTION
  • interacting with EDAR death domain, coupling the receptor to EDA signaling pathway during morphogenesis of ectodermal organs and mediating activation of NFKB, possibly by recruiting TRAF2 to the receptor-signaling complex
  • playing a role as a downstream effector in EDAR signaling
  • CELLULAR PROCESS cell life, differentiation
    cell life, cell death/apoptosis
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    text skin and appendages
    PATHWAY
    metabolism
    signaling signal transduction
    signaling pathway towards NF-kappa B
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TRAF1, TRAF2, TRAF3
  • interacting with EDAR
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HEDAD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    murine crinkled (Cr) phenotypically identical to Tabby and downless