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FLASH GENE
Symbol EDA contributors: npt/mct - updated : 10-10-2014
HGNC name ectodysplasin A
HGNC id 3157
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a collagen-like domain comprising 19 GXX triplets and a EC1 domain composing with a triple helical domain, activating EDA1 by multimerization, whereas the proteoglycan-binding domain may restrict the distribution of endogeneous EDA1
  • a stalk region including two consecutive consensus furin cleavage sequences
  • a proteolytic processing site responsible for its conversion to a soluble form
  • a C terminal extracellular EC2 with three cysteine residues, a trimeric TNF homology domain (THD) that binds the receptor EDAR
    • conjugated GlycoP
    mono polymer homomer , trimer
    HOMOLOGY
    interspecies ortholog to murine Eda
    intraspecies homolog to TNF ligand
    Homologene
    FAMILY
  • tumor necrosis factor family
    • CATEGORY adhesion , regulatory , signaling
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytoskeleton
    text type 2 membrane protein that can be cleaved by furin to produce a secreted form and that binds to EDAR
    basic FUNCTION
  • regulating the function of epithelial signaling centers
  • involved in regulation of cell-cell or cell-matrix interaction
  • paracrine signaling role in hair, tooth and skin sweat gland development
  • a regulatory role in both the NF-kappa-B and JNK pathways
  • may be involved in development of the human dentition, especially of anterior teeth, but not posterior teeth
  • EDA signaling is needed for the determination and development of various skin appendages at spatiotemporally restricted intervals
  • EDA and WNT pathways are required for salivary gland branching morphogenesis
  • is a unique regulator of embryonic and prepubertal ductal morphogenesis
  • is a unique mesenchymal factor regulating embryonic and prepubertal mammary gland morphogenesis through activation of EDAR/NFKB in the epithelium
    • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS development , immunity/defense
    text skin and appendages
    PATHWAY
    metabolism
    signaling signal transduction
  • TNF signaling to the target cells through activation of the NF-kappa B system of transcriptional regulation through IKB
  • EDA/EDAR/NF-kappaB signaling pathways in initiation and maintenance of primary hair follicle placodes
  • ectodysplasin (EDA) pathway is essential for the formation and function of several ectodermal organs
    • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EDAR (isoform EDA-A1)
  • EDA regulates growth and branching of the submandibular salivary gland (SMG) via transcription factor NFKB in the epithelium, and the hedgehog pathway is an important mediator of EDA/NFKB
  • NFKB regulates embryonic and prepubertal ductal development and is essential for EDA-induced accelerated branching morphogenesis
  • FOXI3 is a likely transcriptional target of EDA in ectodermal appendage placodes suggesting that hypohidrotic ectodermal dysplasia (HED) phenotype may in part be produced by compromised FOXI3 activity
    • cell & other
    REGULATION
    induced by Wnt6 (in mice)
    Other regulated by WNT signaling
    ASSOCIATED DISORDERS
    corresponding disease(s) ED1 , HYDX
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    murine Tabby (Ta) phenopypically identical to murine downless and crinked