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FLASH GENE
Symbol EDA contributors: npt/mct - updated : 10-10-2014
HGNC name ectodysplasin A
HGNC id 3157
Corresponding disease
ED1 ectodermal dysplasia 1, anhidrotic
HYDX X-linked hypodontia
Location Xq13.1      Physical location : 68.835.910 - 69.259.319
Synonym name
  • ectodysplasin-A, membrane form
  • ectodysplasin-A, secreted form
  • ectodermal dysplasia 1, anhidrotic
  • EDA protein
  • oligodontia 1
  • Synonym symbol(s) HED, EDA1, EDA2, XLHED, XHED, ED1-A1, ED1-A2
    EC.number 3.5.-.-
    DNA
    TYPE functioning gene
    STRUCTURE 423.41 kb     8 Exon(s)
    regulatory sequence Promoter
    Binding site   enhancer
    text structure
  • exons include alternative 1a, to 1e, 2a, 2b, 3a, 3b, 8a, 8b
  • a binding site for lymphoid enhancer-binding factor-1
  • target of Wnt signaling
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text including six truncated transcripts O, B, C, D, E, F.
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 5296 41.3 391 differentially expressed 1998 9736768
  • also called EDA-A1
  • binding only to EDAR
  • 8 splicing 5290 40.9 389 differentially expressed 1998 9736768
  • also called EDA-A2
  • using an alternate in-frame splice site
  • binding only to XEDAR
  • 2 splicing 1089 19 178 - 1998 9736768
  • also called EDA-B
  • including exons 1a, 3a, 3b
  • truncated form
  • differing in the 3' UTR and coding region compared to variant 1
  • 1 splicing 1233 14.9 147 restricted to heart, liver, muscle 1998 9736768
  • also called EDA-C
  • exons 1a, 1b
  • differing in the 3' UTR and coding region compared to variant 1
  • 3 splicing 1140 14.6 142 very weakly expressed 1998 9736768
  • also called EDA-D
  • stop in exon 1d
  • differing in the 3' UTR and coding region compared to variant 1
  • 2 splicing 840 13.9 135 keratinocytes, hair follicles, sweat glands, and in other adult and fetal tissues 1998 9736768
  • also called EDA-O
  • two exons 1a, stop in exon 2a
  • differing in the 3' UTR and coding region compared to variant 1
  • 3 - 942 - 148 - 1998 9736768
    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