DefinitionThis section has been translated automatically.
The EDA2R gene (EDA2R stands for "Ectodysplasin A2 Receptor") is a protein-coding gene located on chromosome Xq12. The alternatively spliced transcript variants code for different protein isoforms.
General informationThis section has been translated automatically.
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. The encoded protein binds to the EDA-A2 isoform of ectodysplasin, but not to the EDA A1 isoform. The EDA-A2 isoform of ectodysplasin plays an important role in the maintenance of hair and teeth.
Clinical pictureThis section has been translated automatically.
Diseases associated with EDA2R include ectodermal dysplasia 1, hypohidrotic, X-linked, androgenetic alopecia (the EDA2R gene has been shown to be one of the candidate genes/ Lolli F et al. 2017)
LiteratureThis section has been translated automatically.
- Bilgic SN et al. (2023) EDA2R-NIK signaling promotes muscle atrophy linked to cancer cachexia. Nature 617:827-834.
- Lolli F et al. (2017) Androgenetic alopecia: a review. Endocrine 57:9-17.
