EHMT2
euchromatic histone lysine methyltransferase 2
Summary
This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs146903072 | 6:31,847,180 | G/A | downstream gene variant | — |
| rs570263 | 6:31,847,196 | T/G | — | — |
| rs746195049 | 6:31,848,556 | C/T | — | uncertain significance |
| rs2481623573 | 6:31,848,838 | C/A | — | pathogenic |
| rs2481668572 | 6:31,850,531 | T/A | — | uncertain significance |
| rs148424397 | 6:31,851,172 | G/A | — | likely benign |
| rs652888 | 6:31,851,234 | A/G | upstream gene variant | — |
| rs180742749 | 6:31,851,549 | G/A | coding sequence variant | — |
| rs779562061 | 6:31,851,602 | C/A | — | uncertain significance |
| rs61745377 | 6:31,851,622 | C/T | — | benign |
| rs71563386 | 6:31,851,768 | G/C | coding sequence variant | — |
| rs749137663 | 6:31,852,205 | C/T | — | uncertain significance |
| rs145277546 | 6:31,852,221 | G/T | — | uncertain significance |
| rs143327875 | 6:31,852,259 | C/T | — | uncertain significance |
| rs1395462657 | 6:31,852,491 | T/C | — | uncertain significance |
| rs748968823 | 6:31,852,506 | G/A | — | uncertain significance |
| rs989684920 | 6:31,852,573 | C/T | — | uncertain significance |
| rs770418733 | 6:31,852,718 | G/A | — | uncertain significance |
| rs1208064184 | 6:31,854,584 | T/C | — | uncertain significance |
| rs2481787950 | 6:31,854,586 | T/C | — | uncertain significance |
| rs199945298 | 6:31,854,592 | G/A | — | uncertain significance |
| rs747277461 | 6:31,854,634 | G/A | — | uncertain significance |
| rs780138581 | 6:31,854,872 | T/C | — | uncertain significance |
| rs1765051518 | 6:31,855,417 | G/A | — | uncertain significance |
| rs142606173 | 6:31,855,606 | C/A | — | benign |
| rs765545613 | 6:31,855,637 | C/A | — | uncertain significance |
| rs148339816 | 6:31,855,706 | C/T | — | uncertain significance |
| rs747547177 | 6:31,855,721 | T/A | — | uncertain significance |
| rs769036053 | 6:31,855,831 | T/C | — | uncertain significance |
| rs565531085 | 6:31,855,888 | C/T | — | uncertain significance |
| rs146176576 | 6:31,855,914 | C/T | — | uncertain significance |
| rs553740212 | 6:31,856,144 | G/A | — | uncertain significance |
| rs148652525 | 6:31,856,164 | C/G | — | likely benign |
| rs747189741 | 6:31,856,189 | C/T | — | uncertain significance |
| rs768623940 | 6:31,856,193 | C/T | — | uncertain significance |
| rs113973079 | 6:31,856,212 | C/T | — | benign |
| rs35875104 | 6:31,856,294 | T/C | downstream gene variant | — |
| rs147698124 | 6:31,856,412 | C/G | — | likely benign |
| rs117584591 | 6:31,856,561 | G/A | regulatory region variant | — |
| rs369022743 | 6:31,856,750 | G/A | — | likely benign |
| rs757222987 | 6:31,856,764 | G/A | — | uncertain significance |
| rs767533878 | 6:31,856,770 | C/A | — | uncertain significance |
| rs541752887 | 6:31,857,034 | C/T | — | uncertain significance |
| rs973080045 | 6:31,857,044 | G/A | — | uncertain significance |
| rs761482028 | 6:31,857,386 | G/A | — | likely benign |
| rs34929649 | 6:31,858,530 | T/C | intron variant | — |
| rs62395848 | 6:31,858,906 | G/C | intron variant | — |
| rs369154689 | 6:31,860,201 | C/T | — | uncertain significance |
| rs151312506 | 6:31,860,256 | C/T | — | benign |
| rs556582612 | 6:31,860,280 | G/A | — | benign |
| rs139617760 | 6:31,860,315 | G/A | — | uncertain significance |
| rs770389130 | 6:31,860,318 | G/A | — | uncertain significance |
| rs535586 | 6:31,860,337 | T/A | splice region variant | — |
| rs779401050 | 6:31,860,683 | G/A | — | uncertain significance |
| rs72842437 | 6:31,862,697 | G/C | upstream gene variant | — |
| rs2482077080 | 6:31,864,063 | T/C | — | uncertain significance |
| rs568744474 | 6:31,864,107 | G/A | — | uncertain significance |
| rs768716509 | 6:31,864,164 | C/G | — | uncertain significance |
| rs1288790684 | 6:31,864,226 | C/T | — | uncertain significance |
| rs659445 | 6:31,864,304 | G/A | — | benign |
| rs149384831 | 6:31,864,410 | C/T | — | benign |
| rs912280110 | 6:31,864,542 | C/T | — | uncertain significance |
| rs1369795608 | 6:31,864,551 | C/G | — | uncertain significance |
| rs763939448 | 6:31,864,760 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.