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FLASH GENE
Symbol EDAR contributors: mct/npt - updated : 31-08-2011
HGNC name ectodysplasin A receptor
HGNC id 2895
Corresponding disease
ED3 ectodermal dysplasia 3, anhidrotic
Location 2q12.3      Physical location : 109.510.930 - 109.605.828
Synonym name
  • downless murine homolog
  • ectodysplasin 1, anhidrotic receptor
  • EDA- A1 receptor
  • tumor necrosis factor receptor superfamily member EDAR
  • Synonym symbol(s) DL, TNFRH, ED5, ED1R, EDA-A1R, ED3, EDA3, EDA1R
    DNA
    TYPE functioning gene
    STRUCTURE 94.90 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC391417 2 similar to anaphase-promoting complex 1 (meiotic checkpoint regulator) CD8B2 2q12 CD8 antigen, beta polypeptide 2, pseudogene (p37) LOC389017 2 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) LOC389018 2 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) ST6GalII 2q11.2-q12.1 beta-galactoside alpha-2,6-sialyltransferase II LOC339819 2q12.3 similar to protein phosphatase 1, regulatory (inhibitor) subunit 2 DKFZp686P0288 2q12.3 similar to Ran-binding protein 2 SLC5A7 2q12 solute carrier family 5 (choline transporter), member 7 LOC391418 2 similar to phenol sulfotransferase SULT1C1 2q11.1-q11.2 sulfotransferase family, cytosolic, 1C, member 1 LOC391419 2 similar to sulfotransferase 1C SULT1C2 2q11.2 sulfotransferase family, cytosolic, 1C, member 2 GCC2 2q12-q13 GRIP and coiled-coil domain-containing 2 MGC10701 2q12.3 hypothetical protein MGC10701 LIMS1 2q12 LIM and senescent cell antigen-like domains 1 LOC391420 2 similar to 60S ribosomal protein L10 (QM protein) (Tumor suppressor QM) (Laminin receptor homolog) RANBP2 2q11-q13 RAN binding protein 2 FLJ32745 2q12.3 hypothetical protein FLJ32745 EDAR 2q11-q13 ectodysplasin 1, anhidrotic receptor LOC389019 2 LOC389019 FLJ20019 2q13 hypothetical protein FLJ20019 FLJ00204 2q13 FLJ00204 protein SEPT10 2q13 septin 10 FLJ21870 2q13 hypothetical protein FLJ21870 LOC391421 2 similar to Ribosome biogenesis protein BMS1 homolog LOC391422 2 similar to ribosomal protein L22 RANBP2L1 2q12.3 RAN binding protein 2-like 1 LOC339692 2q13 hypothetical protein LOC339692 GPAA1P1 2q12-q14 glycosylphosphatidylinositol anchor attachment 1 pseudogene 1 LOC391423 2 similar to zinc finger protein 499 LOC343938 2q13 similar to zinc finger protein BENE 2q13 BENE protein NPHP1 2q12-q13 nephronophthisis 1 (juvenile) LOC205251 2q13 hypothetical protein LOC205251 FLJ38359 2q13 hypothetical protein FLJ38359 LOC96626 2q14-q21 pinch-2 LOC391424 2 similar to ribosomal protein L22 LOC391425 2 similar to heparin-binding protein HBp15 BUB1 2q14 BUB1 budding uninhibited by benzimidazoles 1 homolog (yeast) LOC339693 2q13 hypothetical LOC339693
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 4226 48.6 448 - 2005 16251197
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivetooth    
    Reproductivemale systemprostate   
    Skin/Tegumentskin appendageshair   
     skin appendagesskin glandsweat glandeccrine sweat gland 
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text basal cells of the developing epidermis with high expression in placodes
    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
  • 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
  • cell & other
    REGULATION
    activated by ED1during hair follicle morphogenesis
    induced by activin B6
    ASSOCIATED DISORDERS
    corresponding disease(s) ED3
    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