Aliases for EDA2R Gene
External Ids for EDA2R Gene
Previous GeneCards Identifiers for EDA2R Gene
EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. The protein encoded by this gene specifically binds to EDA-A2 isoform. This protein is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains 3 cysteine-rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2011]
GeneCards Summary for EDA2R Gene
EDA2R (Ectodysplasin A2 Receptor) is a Protein Coding gene. Diseases associated with EDA2R include ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive and androgenic alopecia. Among its related pathways are Immune System and Interleukin receptor SHC signaling. GO annotations related to this gene include receptor activity and tumor necrosis factor-activated receptor activity. An important paralog of this gene is TNFRSF19.
UniProtKB/Swiss-Prot for EDA2R Gene
Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6.