EDAR Gene - Ectodysplasin A Receptor | Function, Mutations & Related Diseases

The EDAR gene encodes the ectodysplasin A receptor, a member of the tumor necrosis factor receptor (TNFR) superfamily. This receptor is essential for the development of ectodermal appendages such as hair follicles, sweat glands, and teeth. EDAR binds specifically to the ligand ectodysplasin A (EDA) and activates the NF-kB signaling pathway, which regulates cell survival, differentiation, and morphogenesis during embryonic development. Mutations in EDAR cause autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia (HED), characterized by sparse hair, missing teeth, and reduced sweating.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• NF-kB signaling pathway (Reactome: R-HSA-73887)

• Ectodysplasin A signaling (Reactome: R-HSA-5663202)

• TNF receptor superfamily signaling (KEGG: hsa04668)

The ectodysplasin A receptor (EDAR) is a 448-amino acid transmembrane protein belonging to the TNFR superfamily. It contains four cysteine-rich extracellular domains responsible for ligand binding and an intracellular death domain that recruits adaptor proteins (e.g., EDARADD) to activate the NF-kB pathway. EDAR is primarily expressed in ectodermal tissues during development and is critical for the formation of hair, teeth, and sweat glands. Structural studies show that ligand-induced trimerization of EDAR initiates signaling. Mutations that disrupt any step of this process lead to ectodermal dysplasia phenotypes.