EDEM3
ER degradation enhancing alpha-mannosidase like protein 3
Summary
Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1461199778 | 1:184,663,420 | G/T | — | uncertain significance |
| rs765435034 | 1:184,663,565 | C/A | — | uncertain significance |
| rs9425634 | 1:184,663,581 | T/C | synonymous variant | — |
| rs749061615 | 1:184,671,996 | G/A | — | uncertain significance |
| rs2526171905 | 1:184,672,076 | T/C | — | uncertain significance |
| rs78444298 | 1:184,672,098 | G/A | — | benign |
| rs139559842 | 1:184,675,861 | C/T | — | uncertain significance |
| rs373286484 | 1:184,675,908 | T/C | — | uncertain significance |
| rs1649956009 | 1:184,675,927 | C/T | — | uncertain significance |
| rs149304336 | 1:184,677,382 | G/A | — | pathogenic |
| rs3736757 | 1:184,677,464 | G/T | synonymous variant | — |
| rs368655971 | 1:184,677,466 | T/C | — | uncertain significance |
| rs1301893376 | 1:184,677,471 | C/A | — | uncertain significance |
| rs140549505 | 1:184,679,637 | C/T | — | uncertain significance |
| rs140264427 | 1:184,679,653 | G/A | — | uncertain significance |
| rs753838363 | 1:184,679,654 | T/G | — | uncertain significance |
| rs867664324 | 1:184,679,709 | T/A | — | uncertain significance |
| rs779793137 | 1:184,680,869 | C/T | — | uncertain significance |
| rs1650252385 | 1:184,680,941 | G/C | — | uncertain significance |
| rs770289161 | 1:184,681,006 | C/T | — | likely benign |
| rs201214078 | 1:184,681,007 | G/A | — | uncertain significance |
| rs200489181 | 1:184,681,571 | T/C | — | uncertain significance |
| rs761931370 | 1:184,681,586 | C/A | — | uncertain significance |
| rs144035602 | 1:184,681,668 | C/A | — | uncertain significance |
| rs902837579 | 1:184,681,696 | A/T | — | pathogenic |
| rs2102081233 | 1:184,686,026 | C/T | — | pathogenic |
| rs146461491 | 1:184,686,030 | A/T | — | uncertain significance |
| rs916992018 | 1:184,686,040 | G/C | — | uncertain significance |
| rs368296552 | 1:184,686,083 | C/A | — | uncertain significance |
| rs1558053119 | 1:184,686,715 | A/C | — | likely pathogenic |
| rs111991762 | 1:184,688,242 | G/A | — | — |
| rs746842119 | 1:184,688,352 | T/C | — | uncertain significance |
| rs2526241369 | 1:184,688,360 | C/A | — | uncertain significance |
| rs1379772001 | 1:184,690,426 | G/C | — | uncertain significance |
| rs2102089507 | 1:184,690,434 | T/A | — | pathogenic |
| rs778654108 | 1:184,690,436 | T/C | — | uncertain significance |
| rs2526251378 | 1:184,690,508 | C/T | — | uncertain significance |
| rs2102093642 | 1:184,692,884 | C/A | — | pathogenic |
| rs528899420 | 1:184,692,924 | C/G | — | uncertain significance |
| rs150812544 | 1:184,695,397 | T/C | — | uncertain significance |
| rs111881385 | 1:184,695,470 | T/C | — | likely benign |
| rs146164488 | 1:184,695,481 | C/T | — | uncertain significance |
| rs142115161 | 1:184,695,505 | T/A | — | uncertain significance |
| rs12126231 | 1:184,698,816 | A/G | intron variant | — |
| rs41264582 | 1:184,702,008 | G/A | — | benign |
| rs1197561508 | 1:184,702,015 | G/C | — | uncertain significance |
| rs200598664 | 1:184,702,052 | A/T | — | uncertain significance |
| rs769437943 | 1:184,703,728 | C/G | — | uncertain significance |
| rs767960652 | 1:184,703,771 | T/C | — | uncertain significance |
| rs750470640 | 1:184,703,778 | C/T | — | pathogenic |
| rs2526315434 | 1:184,706,158 | C/T | — | uncertain significance |
| rs1651905232 | 1:184,706,755 | C/T | — | uncertain significance |
| rs146347520 | 1:184,706,770 | C/T | — | uncertain significance |
| rs1242683763 | 1:184,706,782 | C/G | — | uncertain significance |
| rs777353823 | 1:184,718,703 | T/C | — | pathogenic |
| rs1652634836 | 1:184,718,704 | C/T | — | uncertain significance |
| rs145069692 | 1:184,723,634 | T/C | — | likely benign |
| rs762312178 | 1:184,723,642 | C/T | — | uncertain significance |
| rs537587048 | 1:184,723,659 | G/A | — | uncertain significance |
| rs200912232 | 1:184,723,731 | G/C | — | uncertain significance |
| rs1262253084 | 1:184,723,746 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.