NSMCE2
NSE2 SUMO ligase component of SMC5/6 complex
Summary
This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. A knockout of the orthologous mouse gene is lethal prior to embryonic day 10.5. Naturally occurring mutations in this gene, that abolish the SUMO ligase activity, are associated with primordial dwarfism and extreme insulin resistance. [provided by RefSeq, Mar 2017]
Known Variants79 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2537449848 | 8:126,114,592 | C/G | — | pathogenic |
| rs767857244 | 8:126,114,606 | A/G | — | uncertain significance |
| rs1407864156 | 8:126,114,608 | T/C | — | likely benign |
| rs773386017 | 8:126,114,610 | G/A | — | uncertain significance |
| rs542612591 | 8:126,114,619 | C/T | — | uncertain significance |
| rs142411288 | 8:126,114,635 | G/A | — | likely benign |
| rs2537450383 | 8:126,114,656 | A/G | — | likely benign |
| rs147875429 | 8:126,114,686 | G/C | — | uncertain significance |
| rs374996419 | 8:126,114,690 | A/G | — | uncertain significance |
| rs2537451011 | 8:126,114,717 | G/A | — | uncertain significance |
| rs2537646050 | 8:126,163,393 | G/A | — | likely benign |
| rs77113123 | 8:126,163,396 | A/G | — | benign |
| rs2537646150 | 8:126,163,399 | T/G | — | likely benign |
| rs200484132 | 8:126,163,425 | G/A | — | uncertain significance |
| rs1453887022 | 8:126,163,436 | A/G | — | uncertain significance |
| rs1246981208 | 8:126,163,469 | G/A | — | uncertain significance |
| rs749740736 | 8:126,163,471 | T/A | — | uncertain significance |
| rs201903722 | 8:126,163,472 | C/T | — | likely benign |
| rs377703235 | 8:126,163,473 | G/A | — | uncertain significance |
| rs2537647181 | 8:126,163,495 | G/A | — | likely benign |
| rs1264778299 | 8:126,194,331 | G/A | — | likely benign |
| rs767289095 | 8:126,194,334 | G/A | — | likely benign |
| rs750227179 | 8:126,194,336 | C/A | — | likely benign |
| rs780276807 | 8:126,194,344 | G/A | — | likely pathogenic |
| rs755127215 | 8:126,194,357 | C/T | — | uncertain significance |
| rs199627612 | 8:126,194,371 | A/G | — | uncertain significance |
| rs150168649 | 8:126,194,457 | T/G | — | benign |
| rs952712670 | 8:126,194,459 | G/T | — | uncertain significance |
| rs113899387 | 8:126,194,464 | G/A | — | likely benign |
| rs750170199 | 8:126,194,473 | A/G | — | likely benign |
| rs760514663 | 8:126,194,474 | C/T | — | pathogenic |
| rs778984736 | 8:126,194,507 | A/G | — | likely benign |
| rs2537798367 | 8:126,194,518 | T/A | — | likely benign |
| rs146237502 | 8:126,194,525 | C/T | — | likely benign |
| rs7008482 | 8:126,267,630 | T/G | intron variant | — |
| rs188148506 | 8:126,316,827 | G/A | intron variant | — |
| rs7015753 | 8:126,330,807 | A/G | intron variant | — |
| rs189074270 | 8:126,336,909 | C/T | intron variant | — |
| rs11778683 | 8:126,338,189 | C/G | — | — |
| rs6989383 | 8:126,342,923 | C/T | regulatory region variant | — |
| rs7010394 | 8:126,343,520 | T/A | — | — |
| rs6990622 | 8:126,343,563 | G/C | — | — |
| rs2891677 | 8:126,344,208 | C/T | intron variant | — |
| rs79634415 | 8:126,344,793 | C/T | intron variant | — |
| rs10100121 | 8:126,349,130 | A/G | intron variant | — |
| rs372016316 | 8:126,369,443 | C/T | — | conflicting classifications of pathogenicity |
| rs2538526309 | 8:126,369,446 | T/G | — | likely benign |
| rs184167565 | 8:126,369,489 | C/T | — | likely benign |
| rs374349288 | 8:126,369,507 | T/G | — | uncertain significance |
| rs76848984 | 8:126,369,525 | C/T | — | likely benign |
| rs2538527087 | 8:126,369,539 | A/C | — | uncertain significance |
| rs563177375 | 8:126,369,553 | A/G | — | uncertain significance |
| rs1185410849 | 8:126,369,565 | C/T | — | uncertain significance |
| rs770886768 | 8:126,369,566 | C/T | — | uncertain significance |
| rs370584966 | 8:126,369,567 | G/A | — | uncertain significance |
| rs774337809 | 8:126,369,575 | C/T | — | likely benign |
| rs374131070 | 8:126,369,577 | A/G | — | likely benign |
| rs2538529234 | 8:126,369,936 | A/G | — | likely benign |
| rs2131369076 | 8:126,369,988 | G/A | — | uncertain significance |
| rs1309772845 | 8:126,370,001 | T/C | — | likely benign |
| rs2538529605 | 8:126,370,008 | G/A | — | uncertain significance |
| rs115376097 | 8:126,370,010 | C/T | — | likely benign |
| rs746545242 | 8:126,370,011 | G/A | — | uncertain significance |
| rs111359849 | 8:126,370,013 | C/A | — | likely benign |
| rs776469721 | 8:126,370,021 | G/T | — | uncertain significance |
| rs200860351 | 8:126,370,022 | C/T | — | likely benign |
| rs2131369327 | 8:126,370,043 | G/T | — | uncertain significance |
| rs137953740 | 8:126,370,044 | C/T | — | uncertain significance |
| rs142447185 | 8:126,370,045 | G/A | — | uncertain significance |
| rs1380066503 | 8:126,370,056 | G/A | — | uncertain significance |
| rs145998588 | 8:126,370,071 | G/A | — | likely benign |
| rs200393339 | 8:126,370,074 | G/T | — | likely benign |
| rs201930510 | 8:126,379,036 | C/T | — | uncertain significance |
| rs751267149 | 8:126,379,037 | G/A | — | likely benign |
| rs200074935 | 8:126,379,041 | A/G | — | likely benign |
| rs755958770 | 8:126,379,073 | A/G | — | likely benign |
| rs1014446619 | 8:126,379,113 | C/A | — | uncertain significance |
| rs536739916 | 8:126,379,118 | T/C | — | likely benign |
| rs777184627 | 8:126,379,121 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.