POLR2E
RNA Polymerase II Subunit E
Gene Information Card
| Symbol | POLR2E |
|---|---|
| Full Name | RNA Polymerase II Subunit E |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 5434 ncbi.nlm.nih.gov/gene/5434 |
| Ensembl ID | ENSG00000104883 |
| UniProt ID | P19388 |
| OMIM ID | 180664 |
| HGNC ID | 9192 |
| Aliases | RPB5, RPB5 homolog, hRPB5, hsRPB5 |
Description
POLR2E encodes the fifth largest subunit of RNA polymerase II, the enzyme responsible for synthesizing messenger RNA in eukaryotes. This subunit is essential for polymerase assembly and stability, and it interacts with transcription factors to regulate initiation and elongation. POLR2E is highly conserved across species and is expressed ubiquitously.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Somatic mutations in POLR2E may alter transcription fidelity, contributing to tumorigenesis; COSMIC reports missense mutations in colorectal carcinoma samples. | COSMIC v99 |
| Neurodevelopmental disorders | Rare germline missense variants in POLR2E have been associated with intellectual disability and developmental delay, likely due to impaired RNA polymerase II function. | ClinVar |
| Breast cancer | Overexpression of POLR2E observed in breast cancer cell lines; potential role in transcriptional dysregulation. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 18.5 | Medium |
| Kidney | 14.1 | Medium |
| Testis | 20.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.1 | High expression |
| HeLa | 19.4 | High expression |
| K562 | 16.7 | Medium expression |
| MCF7 | 21.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337G>A (p.Gly113Arg) | Missense | <0.01% | Reported in ClinVar as likely pathogenic for neurodevelopmental disorder |
| c.482C>T (p.Thr161Ile) | Missense | <0.01% | COSMIC ID COSM1234567; found in colorectal cancer |
| c.1A>G (p.Met1Val) | Missense | <0.01% | ClinVar uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in POLR2E are rare and may lead to reduced RNA polymerase II assembly, causing global transcriptional defects and cellular lethality in homozygous states.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for POLR2E.
Dominant Negative (DN)
Dominant-negative effects are hypothesized for certain missense variants that disrupt polymerase complex integrity, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • RNA polymerase II complex |
| • nucleus | • transcription |
| • DNA-templated | • mRNA processing |
Pathways
• RNA polymerase II transcription
• mRNA splicing
• Gene expression (Transcription)
Protein Summary
POLR2E (RPB5) is a 210-amino-acid protein that forms part of the RNA polymerase II core complex. It contains a conserved domain that mediates interactions with other subunits and transcription factors. The protein is essential for polymerase stability and promoter recognition. UniProt entry P19388 describes its role in transcription initiation and elongation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
