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
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs564932183 | 19:1,088,165 | T/G | — | — |
| rs2512655751 | 19:1,089,543 | T/A | — | uncertain significance |
| rs2512655759 | 19:1,089,544 | T/C | — | uncertain significance |
| rs778316755 | 19:1,089,909 | G/A | — | uncertain significance |
| rs150847384 | 19:1,089,943 | C/G | — | uncertain significance |
| rs3787016 | 19:1,090,803 | A/G | downstream gene variant | — |
| rs752979834 | 19:1,090,932 | A/G | — | uncertain significance |
| rs144928792 | 19:1,091,811 | T/C | — | uncertain significance |
| rs1297383239 | 19:1,091,908 | T/C | — | pathogenic |
| rs1366284293 | 19:1,093,906 | G/C | — | uncertain significance |
| rs75657655 | 19:1,093,976 | C/T | — | benign |
| rs4921 | 19:1,093,979 | C/A | synonymous variant | — |
| rs976132861 | 19:1,093,980 | C/T | — | uncertain significance |
| rs141821175 | 19:1,093,989 | C/T | — | uncertain significance |
| rs777352628 | 19:1,094,077 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.