Aliases for EDA Gene
External Ids for EDA Gene
Previous HGNC Symbols for EDA Gene
Previous GeneCards Identifiers for EDA Gene
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, Jul 2008]
GeneCards Summary for EDA Gene
EDA (Ectodysplasin A) is a Protein Coding gene. Diseases associated with EDA include Ectodermal Dysplasia 1, Hypohidrotic, X-Linked and Tooth Agenesis, Selective, X-Linked, 1. Among its related pathways are Innate Immune System and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and tumor necrosis factor receptor binding. An important paralog of this gene is COL5A1.
UniProtKB/Swiss-Prot Summary for EDA Gene
Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:8696334, PubMed:11039935, PubMed:27144394). May also play a role in cell adhesion (By similarity).
[Isoform 1]: Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R.
[Isoform 3]: Binds only to the receptor EDA2R.