UBE2O

ubiquitin conjugating enzyme E2 O

Summary

Enables ubiquitin conjugating enzyme activity and ubiquitin protein ligase activity. Involved in positive regulation of BMP signaling pathway; protein ubiquitination; and retrograde transport, endosome to Golgi. Located in cytoplasm and nuclear body. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants57 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75692506317:74,387,082G/Auncertain significance
rs90835797817:74,387,094C/Tuncertain significance
rs77118754317:74,387,232G/Auncertain significance
rs76225566517:74,387,283C/Tuncertain significance
rs78022690617:74,387,373A/Guncertain significance
rs13996837317:74,387,400G/Auncertain significance
rs250960427517:74,387,409G/Auncertain significance
rs250960461017:74,387,482G/Auncertain significance
rs20206165117:74,387,485T/Cuncertain significance
rs75912053517:74,387,494G/Auncertain significance
rs20032848417:74,387,542C/Tuncertain significance
rs14734998217:74,392,365C/Tuncertain significance
rs76331953817:74,392,368C/Tuncertain significance
rs55172320317:74,392,562T/Cuncertain significance
rs55487609317:74,392,634A/Guncertain significance
rs14560506217:74,392,666G/Abenign
rs77666290917:74,392,746G/Auncertain significance
rs19995544517:74,394,339A/Cuncertain significance
rs250962451917:74,394,340T/Auncertain significance
rs13796550017:74,394,374C/Tuncertain significance
rs250962548017:74,394,648G/Auncertain significance
rs250962672717:74,394,996G/Auncertain significance
rs148669345517:74,395,052G/Cuncertain significance
rs86633843617:74,395,584C/Tuncertain significance
rs76393561817:74,395,585G/Auncertain significance
rs14978303617:74,395,623C/Tuncertain significance
rs126793264917:74,395,653G/Cuncertain significance
rs36907045117:74,395,816C/Tuncertain significance
rs77956883217:74,395,836C/Auncertain significance
rs250962963017:74,395,842G/Auncertain significance
rs76284050717:74,395,878G/Auncertain significance
rs57771143517:74,396,239T/Cuncertain significance
rs76218405017:74,396,253T/Guncertain significance
rs74680397417:74,396,376A/Guncertain significance
rs37415628017:74,396,537T/Cuncertain significance
rs20137697717:74,396,611T/Guncertain significance
rs76313813417:74,398,687C/Tuncertain significance
rs76445957517:74,398,726C/Tuncertain significance
rs76802322817:74,401,321T/Cuncertain significance
rs37656604217:74,401,352C/Tuncertain significance
rs250964312817:74,401,360T/Cuncertain significance
rs74948378017:74,401,595G/Alikely benign
rs14370963317:74,401,602C/Tuncertain significance
rs74643530017:74,401,604C/Guncertain significance
rs478929517:74,419,180C/Aintron variant
rs1107781617:74,421,042T/Cintron variant
rs18554855417:74,440,359C/T
rs478929617:74,440,550C/A
rs721952017:74,443,127G/Cregulatory region variant
rs89349655617:74,448,829T/Cuncertain significance
rs76894798117:74,448,850T/Auncertain significance
rs99165485817:74,448,887G/Auncertain significance
rs207328015517:74,448,953C/Tuncertain significance
rs250973652117:74,449,007A/Tuncertain significance
rs130254139817:74,449,081G/Auncertain significance
rs118839473617:74,449,181C/Auncertain significance
rs100549581717:74,449,190G/Auncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.