EDA2R
Description
The EDA2R (ectodysplasin A2 receptor) is a protein-coding gene located on chromosome X.
EDA2R (Tumor necrosis factor receptor superfamily member 27) is a protein encoded by the EDA2R gene in humans. EDA2R specifically binds to the EDA-A2 isoform of ectodysplasin, a protein encoded by the EDA gene. Mutations in EDA lead to anhidrotic ectodermal dysplasia, a syndrome characterized by a lack of hair, sweat glands, and teeth. EDA2R is a type III transmembrane protein belonging to the TNFR (tumor necrosis factor receptor) superfamily. It contains three cysteine-rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide. Multiple alternatively spliced transcript variants have been identified for EDA2R, but some of these variants have limited evidence.
EDA2R is also known as EDA-A2R, EDAA2R, TNFRSF27, XEDAR.
