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 1, Hypohidrotic, X-Linked and Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive. Among its related pathways are TRAF Pathway and Innate 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.