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FLASH GENE
Symbol EDARADD contributors: mct - updated : 31-08-2011
HGNC name EDAR-associated death domain
HGNC id 14341
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