EDA2R Chromosome X
Ectodysplasin A2 receptor
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What This Gene Does
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]
Gene Info
Gene Group
Tumor necrosis factor receptor superfamily
Locus Type
gene with protein product
Location
Xq12
Ensembl
ENSG00000131080
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201070562 | Health Risk | Conflicting classifications of pathogenicity | — |