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Description for Protein EDAR

ectodysplasin A receptor
6 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
  • DEATH: DEATH domain, found in proteins involved in cell death (apoptosis).
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05162
    KEGG - Pathway(s):
    hsa04060
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Ectodysplasin 1, anhidrotic receptor; DL; Ectodysplasin receptor; Ectodysplasin A1 isoform receptor; EDA-A1 receptor; EDA-A1R; Tumor necrosis factor receptor superfamily member EDAR; Ectodysplasin-A receptor; Ectodermal dysplasia receptor; Downless homolog; ED1R; ED3; ED5; EDA3
    Approved Symbol:
    EDAR
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Ectodermal dysplasia, hypohidrotic, autosomal dominant(Pd);
  • Ectodermal dysplasia, hypohidrotic, autosomal recessive(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 04974 Entrez Gene ID: 10913 OMIM ID: 604095 Swissprot Accession: Q9UNE0;