EDA2R
ectodysplasin A2 receptor
Summary
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]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs756693141 | X:65,817,849 | T/A | — | likely benign |
| rs921680648 | X:65,819,396 | C/T | — | uncertain significance |
| rs201070562 | X:65,819,397 | C/A | — | conflicting classifications of pathogenicity |
| rs2519554886 | X:65,819,492 | C/T | — | uncertain significance |
| rs150986690 | X:65,819,494 | C/T | — | benign |
| rs766654958 | X:65,819,507 | G/T | — | uncertain significance |
| rs1928171564 | X:65,819,535 | G/A | — | uncertain significance |
| rs749216567 | X:65,819,560 | G/A | — | likely benign |
| rs760870811 | X:65,819,580 | G/A | — | uncertain significance |
| rs777625658 | X:65,819,615 | G/A | — | uncertain significance |
| rs766939798 | X:65,819,618 | T/C | — | uncertain significance |
| rs778940212 | X:65,819,646 | C/T | — | likely benign |
| rs2519632201 | X:65,822,514 | G/A | — | uncertain significance |
| rs146403451 | X:65,822,614 | C/T | — | likely benign |
| rs12837393 | X:65,824,281 | G/A | — | likely benign |
| rs769441083 | X:65,824,286 | T/G | — | uncertain significance |
| rs755280381 | X:65,824,332 | G/A | — | uncertain significance |
| rs200268345 | X:65,824,340 | C/T | — | likely benign |
| rs1929413423 | X:65,824,924 | T/G | — | uncertain significance |
| rs1385699 | X:65,824,986 | C/T | missense variant | — |
| rs752010334 | X:65,825,021 | A/T | — | likely benign |
| rs757586946 | X:65,825,022 | G/A | — | uncertain significance |
| rs147641504 | X:65,835,784 | G/A | — | benign |
| rs759036337 | X:65,835,804 | C/T | — | likely benign |
| rs769890219 | X:65,835,819 | C/T | — | uncertain significance |
| rs73221529 | X:65,835,841 | A/G | — | benign |
| rs12850857 | X:65,852,279 | C/A | — | — |
| rs73221531 | X:65,853,557 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.