PEG3

paternally expressed 3

Summary

In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5' exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5' exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. In contrast, in other mammals ZIM2 does not undergo imprinting and, in mouse, cow, and likely other mammals as well, the ZIM2 and PEG3 genes do not share exons. Human PEG3 protein belongs to the Kruppel C2H2-type zinc finger protein family. PEG3 may play a role in cell proliferation and p53-mediated apoptosis. PEG3 has also shown tumor suppressor activity and tumorigenesis in glioma and ovarian cells. Alternative splicing of this PEG3 gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2009]

Known Variants119 total

rsidPosition (GRCh37)AllelesClassClinVar
rs251458392919:57,325,062T/C—uncertain significance
rs13999839819:57,325,072C/T—uncertain significance
rs75260883019:57,325,084G/A—uncertain significance
rs3487645219:57,325,109G/A—benign
rs74978437519:57,325,134G/C—uncertain significance
rs56536664119:57,325,176T/C—uncertain significance
rs53096934219:57,325,186A/G—uncertain significance
rs251459501619:57,325,290C/G—uncertain significance
rs14777258719:57,325,304T/A—conflicting classifications of pathogenicity
rs20174682719:57,325,350A/G—uncertain significance
rs37012534719:57,325,360C/T—likely benign
rs14692653019:57,325,372C/T—uncertain significance
rs75316252519:57,325,384C/G—uncertain significance
rs3483155319:57,325,443G/A—benign
rs5593937619:57,325,509C/T—uncertain significance
rs37569546919:57,325,512A/G—uncertain significance
rs5623750119:57,325,545G/C—likely benign
rs3541151719:57,325,643G/A—benign
rs15000069619:57,325,721T/C—likely benign
rs14500581819:57,325,727A/G—likely benign
rs77427834619:57,325,730T/A—likely benign
rs11771896019:57,325,877G/A—benign
rs77145286119:57,325,938A/G—uncertain significance
rs3473177619:57,325,940A/T—likely benign
rs14693657019:57,325,979G/A—benign
rs15010133919:57,326,086C/T—uncertain significance
rs37069981519:57,326,097G/C—uncertain significance
rs118914100219:57,326,103T/C—uncertain significance
rs75368635719:57,326,130C/T—uncertain significance
rs78038803419:57,326,185G/A—uncertain significance
rs251463223619:57,326,262C/A—uncertain significance
rs14920208419:57,326,370G/A—uncertain significance
rs251463650119:57,326,400C/A—uncertain significance
rs76333287519:57,326,461C/T—uncertain significance
rs251463954319:57,326,485A/T—uncertain significance
rs76836912619:57,326,490T/C—uncertain significance
rs14109221319:57,326,500C/T—likely benign
rs132970857519:57,326,531G/T—uncertain significance
rs75316920819:57,326,545T/C—uncertain significance
rs14807616319:57,326,587T/C—likely benign
rs77889517519:57,326,593T/C—uncertain significance
rs37207787219:57,326,607G/A—likely benign
rs20099868819:57,326,680C/T—likely benign
rs251465090719:57,326,751G/A—uncertain significance
rs14972626919:57,326,752C/T—likely benign
rs76237260219:57,326,805T/C—uncertain significance
rs15117799619:57,326,868C/T—uncertain significance
rs134469168419:57,326,871T/C—likely benign
rs76825469919:57,326,872G/A—uncertain significance
rs14757100719:57,326,927T/C—benign
rs128424307619:57,326,940A/G—uncertain significance
rs3594497319:57,327,020A/G—benign
rs75228504519:57,327,049C/T—uncertain significance
rs20086241519:57,327,061T/G—uncertain significance
rs14957351219:57,327,144C/T—likely benign
rs205992925519:57,327,203A/T—uncertain significance
rs725179819:57,327,295C/G—benign
rs19966063419:57,327,342T/C—likely benign
rs53432534019:57,327,354C/T—likely benign
rs3594754119:57,327,420C/A—benign
rs11329409119:57,327,432A/G—benign
rs55847239019:57,327,480G/A—uncertain significance
rs76563090619:57,327,571C/T—uncertain significance
rs136484043619:57,327,591G/A—uncertain significance
rs53217338219:57,327,609C/T—uncertain significance
rs3508747319:57,327,718A/C—benign
rs75823772319:57,327,752G/C—uncertain significance
rs145471876119:57,327,839G/C—uncertain significance
rs251469689119:57,327,901G/A—uncertain significance
rs14055581619:57,327,924C/T—uncertain significance
rs3601689619:57,327,939T/C—benign
rs251469863819:57,327,948T/C—uncertain significance
rs77966178419:57,327,973C/T—likely benign
rs5588573519:57,327,997C/T—benign
rs20002266519:57,327,999C/T—uncertain significance
rs37604244219:57,328,000G/A—uncertain significance
rs76834380519:57,328,005C/T—uncertain significance
rs19989473919:57,328,006G/A—uncertain significance
rs5617958819:57,328,011C/T—uncertain significance
rs7996098919:57,328,023T/C—benign
rs37562981419:57,328,052A/T—uncertain significance
rs251470428019:57,328,069G/A—uncertain significance
rs2852417319:57,328,213C/A—benign
rs75385397419:57,328,281C/T—uncertain significance
rs53326832819:57,328,477T/C—likely benign
rs76577914419:57,328,507T/C—uncertain significance
rs75186953219:57,328,530C/T—uncertain significance
rs206006320519:57,328,614T/C—uncertain significance
rs251472104819:57,328,624A/C—uncertain significance
rs75482161519:57,328,627G/C—uncertain significance
rs20028654919:57,328,672T/C—uncertain significance
rs136727469619:57,328,678T/G—uncertain significance
rs133100384119:57,328,702C/A—uncertain significance
rs37053778719:57,328,800C/T—likely benign
rs19970099419:57,328,801G/A—uncertain significance
rs76115670119:57,328,818G/T—uncertain significance
rs122569968319:57,328,833G/C—uncertain significance
rs3529104319:57,328,877G/C—uncertain significance
rs54989460119:57,328,905C/T—uncertain significance
rs76532613619:57,328,920T/G—uncertain significance

Showing 100 of 119 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.