UPF2

UPF2 regulator of nonsense mediated mRNA decay

Summary

This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008]

Known Variants65 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11418535910:11,966,572G/A——
rs121578658810:11,971,856T/A—likely benign
rs126042870810:11,971,857G/A—likely benign
rs134420812110:11,973,734G/C—uncertain significance
rs249117182010:11,973,758C/T—uncertain significance
rs37015960910:11,984,656T/C—likely benign
rs37444265110:11,984,681T/C—uncertain significance
rs20072565710:11,984,726G/T—uncertain significance
rs15085028110:11,985,059G/A—likely benign
rs76004967110:11,985,118T/A—uncertain significance
rs36902682010:11,990,505G/T—uncertain significance
rs37727497710:11,994,101C/A—uncertain significance
rs76363238710:11,994,191T/C—uncertain significance
rs183308441910:11,994,211G/A—uncertain significance
rs122989204110:11,994,247C/T—uncertain significance
rs7411991310:11,997,226T/C—benign
rs3413614810:11,997,339C/T—benign
rs249121455610:11,997,488T/A—uncertain significance
rs20218318910:11,998,312T/C—likely benign
rs14370449610:11,998,528A/T—benign
rs14232719910:12,001,275G/A—benign
rs57025155510:12,001,315G/A—uncertain significance
rs18551973410:12,006,795T/C—benign
rs249123926310:12,009,363T/C—uncertain significance
rs7277771110:12,017,967A/Cintron variant—
rs18551257010:12,021,103C/T—uncertain significance
rs105220428910:12,039,687T/C—uncertain significance
rs134663498510:12,039,744A/T—uncertain significance
rs249131322810:12,041,998A/T—uncertain significance
rs11800401610:12,043,768C/G—likely benign
rs183395666910:12,043,781A/T—uncertain significance
rs54598373910:12,043,803T/C—uncertain significance
rs125799264610:12,046,549G/C—uncertain significance
rs158856406110:12,046,563A/G—likely benign
rs37366359310:12,046,659T/C—uncertain significance
rs117099595610:12,046,675T/C—uncertain significance
rs1079591710:12,051,816G/C——
rs56931831610:12,053,155T/C——
rs37078914010:12,056,031G/A—uncertain significance
rs249134523910:12,056,136T/C—uncertain significance
rs74537581910:12,056,181C/T—uncertain significance
rs76934396410:12,056,182G/A—uncertain significance
rs75717763510:12,070,883A/T—uncertain significance
rs53424843410:12,071,069T/C—uncertain significance
rs55431398410:12,071,110G/A—uncertain significance
rs76779607410:12,071,216G/C—uncertain significance
rs75222485110:12,071,255C/T—uncertain significance
rs7831586110:12,071,316A/G—benign
rs99131645410:12,071,383T/C—uncertain significance
rs36836719710:12,071,402G/A—uncertain significance
rs3431288710:12,077,069A/G—benign
rs15084155610:12,077,076T/G—uncertain significance
rs76849207310:12,077,092G/A—uncertain significance
rs75015412910:12,077,121T/C—uncertain significance
rs15001669710:12,077,155C/T—likely benign
rs77287578010:12,077,236C/A—uncertain significance
rs249139959510:12,077,239C/T—uncertain significance
rs249139980510:12,077,280T/C—uncertain significance
rs75205422110:12,077,288G/C—likely benign
rs74951630610:12,077,305C/T—uncertain significance
rs183460611410:12,077,332C/A—association
rs77322359410:12,077,334G/A—uncertain significance
rs20185102510:12,077,347T/C—uncertain significance
rs14004848110:12,077,377A/G—uncertain significance
rs19992319810:12,077,409C/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.