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FLASH GENE
Symbol EDAR contributors: mct/npt - updated : 02-02-2022
HGNC name ectodysplasin A receptor
HGNC id 2895
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a signal peptide
  • an extracellular N terminal domain with three TNFR-Cys repeats
  • a single transmembrane domain
  • an intracellular domain with a C terminal DEATH domain
    • mono polymer trimer
    HOMOLOGY
    interspecies homolog to murine downless
    Homologene
    FAMILY
  • tumor necrosis factor receptor family
    • CATEGORY signaling , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    text membrane protein type 1
    basic FUNCTION
  • involved in hair induction and in the process of ectodermal differentiation
  • activator of JNK, NFKB and cell caspase-independent cell death pathways
  • activating the NF-kappaB pathway together with its downstream adaptator EDARADD (Edar-associated death domain) for the development of hair follicles, teeth, exocrine glands and other ectodermal derivatives
  • major genetic determinant of Asian hair thickness
  • crucial role of the EDAR signaling in development of hair, teeth, and sweat gland
  • EDAR functions as a component of Wnt/CTNNB1 signaling pathway, and is a potential modulator in colorectal carcinogenesis
  • is a death receptor in the Tumour Necrosis Factor Receptor (TNFR) superfamily with roles in the development of hair follicles, teeth and cutaneous glands
    • CELLULAR PROCESS cell life, differentiation
    cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    EDAR and TNFSFR19 signalling pathways act redundantly to regulate initiation of hair follicle development (Pispa 2008)
    a component
  • involvement of the MAP3K7IP2/TRAF6/MAP3K7 signaling complex in the EDAR signal transduction pathway
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding EDA
  • binding to EDARADD by their DEATH domains
  • activating NFKB through IKBKG (NEMO)
  • interacting with TRAF family members
  • EDAR constrains melanoma progression by acting as a dependence receptor
  • essential role of interaction between EDAR and EDARADD in ectodermal development
    • cell & other
    REGULATION
    activated by ED1during hair follicle morphogenesis
    induced by activin B6
    ASSOCIATED DISORDERS
    corresponding disease(s) ED3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in (ER) negative breast carcinomas which display squamous differentiation
    Susceptibility
  • to high ear thickness in Asian people
  • to tooth shoveling
    • Variant & Polymorphism other
  • association between the 1540T/C polymorphism of EDAR and hair thickness
  • T1540C polymorphism (rs3827760) strongly associated with tooth shoveling in East Asian populations (Kimura 2009)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    murine downless (dl) phenotypically to Tabby and crinked