POLR2E Chromosome 19

RNA polymerase II, I and III subunit E
1 variant 1 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
RNA polymerase subunits
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000099817
Associated Conditions (1)
Short stature
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1297383239 Health Risk Pathogenic Short stature, Short stature
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