Aliases for EDA2R Gene
External Ids for EDA2R Gene
Previous GeneCards Identifiers for EDA2R Gene
The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016]
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 TNF Signaling (sino) and Immune System. 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.