POLR2E Gene

HGNC Family	RNA polymerase subunits (POLR)
Name	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPOLR2E encodes an essential subunit of RNA polymerase II that plays a critical role in gene transcription. Structural and mutagenesis studies have demonstrated that regions within the protein—often referred to as RPB5—are vital for mediating interactions with transcription factors, such as TFIIF and even viral proteins, thereby influencing transcription initiation and early elongation events."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its canonical function in the transcriptional machinery, genetic association studies have focused on functional single nucleotide polymorphisms in POLR2E, particularly the rs3787016 variant. Investigations in diverse populations have reported that this polymorphism is linked with altered cancer susceptibility. For example, one study in a Chinese Han population observed that the rs3787016 C/T variant was associated with a significantly decreased risk of esophageal squamous cell carcinoma"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", while subsequent studies and meta-analyses have identified associations with predisposition to papillary thyroid carcinoma, liver, prostate, lung, breast, and cervical cancers."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nCollectively, these findings underscore the dual significance of POLR2E: as a fundamental structural component that orchestrates interactions within the RNA polymerase II complex to regulate efficient mRNA synthesis, and as a genetic marker whose polymorphisms may impact cancer risk. This convergence of molecular function and genetic association supports further evaluation of POLR2E as a potential biomarker for cancer predisposition and as a target for studies aiming to elucidate the mechanisms underlying transcriptional regulation in oncogenesis.\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Thi Thu Thuy Le, Shijun Zhang, Naoyuki Hayashi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutational analysis of human RNA polymerase II subunit 5 (RPB5): the residues critical for interactions with TFIIF subunit RAP30 and hepatitis B virus X protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biochem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/jb/mvi119"}], "href": "https://doi.org/10.1093/jb/mvi119"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16169872"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16169872"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Xingyou Ye, Ping Xiao, Xiaowei Hu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Crystallization and preliminary X-ray analysis of the RPB5 subunit of human RNA polymerase II."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Crystallogr Sect F Struct Biol Cryst Commun (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1107/S1744309111033288"}], "href": "https://doi.org/10.1107/S1744309111033288"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22102239"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22102239"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Mingqiang Kang, Yonghua Sang, Haiyong Gu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Long noncoding RNAs POLR2E rs3787016 C/T and HULC rs7763881 A/C polymorphisms are associated with decreased risk of esophageal cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Tumour Biol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s13277-015-3328-z"}], "href": "https://doi.org/10.1007/s13277-015-3328-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25874495"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25874495"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Bifeng Chen, Jinfeng Li, Can Yi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Long non-coding RNA POLR2E rs3787016 is associated with the risk of papillary thyroid carcinoma in Chinese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pathol Res Pract (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.prp.2018.04.008"}], "href": "https://doi.org/10.1016/j.prp.2018.04.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29724531"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29724531"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Bifeng Chen, Shang Wang, Guangxin Ma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The association of "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "POLR2E"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " rs3787016 polymorphism and cancer risk: a Chinese case-control study and meta-analysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biosci Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BSR20180853"}], "href": "https://doi.org/10.1042/BSR20180853"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30291213"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30291213"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Hedieh Sattarifard, Mohammad Hashemi, Shekoufeh Hassanzarei, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Long non-coding RNA POLR2E gene polymorphisms increased the risk of prostate cancer in a sample of the Iranian population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleosides Nucleotides Nucleic Acids (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/15257770.2017.1391394"}], "href": "https://doi.org/10.1080/15257770.2017.1391394"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30587086"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30587086"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Bifeng Chen, Yuwei Jiao, Fukang Yaolong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The POLR2E rs3787016 polymorphism is strongly associated with the risk of female breast and cervical cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pathol Res Pract (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.prp.2019.02.015"}], "href": "https://doi.org/10.1016/j.prp.2019.02.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30846411"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30846411"}]}]}]}
Synonyms	RPABC1, HRPB25, XAP4, RPB5, HSRPB5
Proteins	RPAB1_HUMAN
NCBI Gene ID	5434
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

POLR2E has 8,864 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 121 datasets.

Click the + buttons to view associations for POLR2E from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

POLR2E Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by POLR2E gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of POLR2E gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of POLR2E gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of POLR2E gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of POLR2E gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of POLR2E gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of POLR2E gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of POLR2E gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of POLR2E gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of POLR2E gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of POLR2E gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of POLR2E gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of POLR2E gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with POLR2E protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with POLR2E gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of POLR2E gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of POLR2E gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of POLR2E gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing POLR2E protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of POLR2E gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing POLR2E protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing POLR2E protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with POLR2E protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with POLR2E protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing POLR2E protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with POLR2E gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with POLR2E gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with POLR2E gene/protein from the curated CTD Gene-Disease Associations dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with POLR2E gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with POLR2E gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with POLR2E gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with POLR2E gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with POLR2E gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at POLR2E gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of POLR2E gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of POLR2E gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing POLR2E from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with POLR2E gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with POLR2E gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of POLR2E gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.