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 TNFs bind their physiological receptors and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and tumor necrosis factor receptor binding.
UniProtKB/Swiss-Prot 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.