EDEM2
ER degradation enhancing alpha-mannosidase like protein 2
Summary
In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs149713579 | 20:33,703,381 | G/A | — | uncertain significance |
| rs778066185 | 20:33,703,387 | G/T | — | uncertain significance |
| rs747266455 | 20:33,703,388 | C/T | — | likely benign |
| rs778117289 | 20:33,703,454 | A/T | — | uncertain significance |
| rs145586492 | 20:33,703,523 | C/T | — | uncertain significance |
| rs2515472642 | 20:33,703,552 | T/C | — | uncertain significance |
| rs756222677 | 20:33,703,591 | T/C | — | uncertain significance |
| rs3746429 | 20:33,703,607 | C/T | missense variant | — |
| rs766700905 | 20:33,703,647 | G/C | — | uncertain significance |
| rs527248500 | 20:33,703,701 | G/A | — | benign |
| rs745432375 | 20:33,703,703 | G/A | — | uncertain significance |
| rs568666906 | 20:33,706,474 | G/A | — | uncertain significance |
| rs375264450 | 20:33,706,492 | C/T | — | uncertain significance |
| rs370673596 | 20:33,706,516 | A/G | — | uncertain significance |
| rs753615040 | 20:33,711,716 | C/T | — | uncertain significance |
| rs1339046328 | 20:33,711,723 | C/G | — | uncertain significance |
| rs2515483963 | 20:33,711,780 | A/G | — | uncertain significance |
| rs1254494390 | 20:33,711,829 | A/C | — | uncertain significance |
| rs138438553 | 20:33,711,830 | A/G | — | uncertain significance |
| rs6142302 | 20:33,713,251 | A/G | intron variant | — |
| rs201673840 | 20:33,714,106 | G/A | — | uncertain significance |
| rs377175960 | 20:33,719,460 | T/A | — | uncertain significance |
| rs6120844 | 20:33,720,240 | G/T | intron variant | — |
| rs368321216 | 20:33,722,573 | G/A | — | uncertain significance |
| rs139780569 | 20:33,722,587 | C/G | — | uncertain significance |
| rs759514733 | 20:33,722,608 | G/A | — | uncertain significance |
| rs775586607 | 20:33,722,693 | G/T | — | uncertain significance |
| rs2515503464 | 20:33,722,732 | T/C | — | uncertain significance |
| rs2295888 | 20:33,722,863 | A/G | intron variant | — |
| rs6120848 | 20:33,728,678 | T/C | intron variant | — |
| rs1231855614 | 20:33,730,199 | G/C | — | uncertain significance |
| rs369753267 | 20:33,730,224 | C/T | — | uncertain significance |
| rs2515515319 | 20:33,730,280 | A/G | — | uncertain significance |
| rs6120849 | 20:33,730,387 | C/T | intron variant | — |
| rs77893446 | 20:33,730,549 | T/A | intron variant | — |
| rs976580885 | 20:33,732,799 | C/T | — | uncertain significance |
| rs1190255130 | 20:33,734,970 | T/A | — | uncertain significance |
| rs150314125 | 20:33,734,989 | G/C | — | uncertain significance |
| rs2515523948 | 20:33,735,024 | C/A | — | uncertain significance |
| rs751222035 | 20:33,735,051 | C/A | — | uncertain significance |
| rs6060269 | 20:33,736,515 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.