Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol EDA contributors: npt/mct - updated : 10-10-2014
HGNC name ectodysplasin A
HGNC id 3157
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveintestinesmall intestine   
 liver    
 tooth    
Endocrinepancreas    
Reproductivefemale systemuterus   
 male systemprostate   
Skin/Tegumentskin appendageshairfollicle  
 skin appendagesskin glandsweat glandeccrine sweat gland 
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/lining   
Epithelialsecretoryglandularexocrine 
Epithelialsensoryolfactory  
cells
SystemCellPubmedSpeciesStageRna symbol
Skin/Tegumentkeratinocyte
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal, pregnancy
Text placenta (isoform D), developing epithelium, tooth bud, umbilical chord, fetal liver
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