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Description for Protein EDA

ectodysplasin A
4 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TNF: Tumour necrosis factor family.
  • TM: Transmembrane domain
  • COLL: Collagen triple helix repeat (20 copies)
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05480
    KEGG - Pathway(s):
    hsa04060
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Ectodermal dysplasia protein; EDA protein; Ectodysplasin A1; ED1; EDA1; XLHED; Ectodysplasin; HED; XHED; Ectodysplasin A isoform EDA-A1; Ectodysplasin A isoform EDA-A2; Ectodysplasin A isoform EDA-B; Ectodysplasin A isoform EDA-E; Ectodysplasin A isoform EDA-C; Ectodysplasin A isoform EDA-F; Ectodysplasin A isoform EDA-D; Ectodysplasin A isoform EDA-O
    Approved Symbol:
    EDA
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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, anhidrotic, X-linked(Pd);
  • Hypodontia, X-linked(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 8 : 1
  • Isoform 7 : 1
  • Isoform 6 : 1
  • Isoform 5 : 1
  • Isoform 4 : 1
  • Isoform 3 : 1
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 02347 Entrez Gene ID: 1896 OMIM ID: 300451 Swissprot Accession: Q92838;