POLR2E

RNA polymerase II, I and III subunit E

Summary

This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Known Variants15 total

rsidPosition (GRCh37)AllelesClassClinVar
rs56493218319:1,088,165T/G——
rs251265575119:1,089,543T/A—uncertain significance
rs251265575919:1,089,544T/C—uncertain significance
rs77831675519:1,089,909G/A—uncertain significance
rs15084738419:1,089,943C/G—uncertain significance
rs378701619:1,090,803A/Gdownstream gene variant—
rs75297983419:1,090,932A/G—uncertain significance
rs14492879219:1,091,811T/C—uncertain significance
rs129738323919:1,091,908T/C—pathogenic
rs136628429319:1,093,906G/C—uncertain significance
rs7565765519:1,093,976C/T—benign
rs492119:1,093,979C/Asynonymous variant—
rs97613286119:1,093,980C/T—uncertain significance
rs14182117519:1,093,989C/T—uncertain significance
rs77735262819:1,094,077G/A—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.

POLR2E — RNA polymerase II, I and III subunit E