POLR2A
RNA Polymerase II Subunit A
Gene Information Card
| Symbol | POLR2A |
|---|---|
| Full Name | RNA Polymerase II Subunit A |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 5430 ncbi.nlm.nih.gov/gene/5430 |
| Ensembl ID | ENSG00000181222 |
| UniProt ID | P24928 |
| OMIM ID | 180660 |
| HGNC ID | 9187 |
| Aliases | RPB1, RPO2, POLR2, RPBh1, hsRPB1, hRPB220 |
Description
POLR2A encodes the largest subunit of RNA polymerase II, the enzyme responsible for synthesizing messenger RNA in eukaryotes. This subunit contains the catalytic center and is essential for transcription initiation, elongation, and termination. It is frequently mutated in various cancers and is a target for therapeutic intervention.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Somatic mutations in POLR2A drive tumorigenesis via altered transcription | COSMIC, ClinVar |
| Glioma | Recurrent mutations in POLR2A are associated with IDH-wildtype gliomas | COSMIC, ClinVar |
| Uterine Corpus Endometrial Carcinoma | POLR2A mutations contribute to cancer progression | COSMIC |
| Lung Adenocarcinoma | Somatic variants in POLR2A linked to oncogenic transcription | COSMIC |
| Melanoma | POLR2A mutations found in melanoma samples | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.7 | Cervical cancer cell line |
| A549 | 14.2 | Lung cancer cell line |
| HEK293 | 16.5 | Embryonic kidney cell line |
| K562 | 12.0 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg749His | Missense | 0.2% in COSMIC | Alters active site, may affect transcription fidelity |
| p.Pro1130Leu | Missense | 0.1% in COSMIC | Located in linker domain, potential functional impact |
| p.Glu1238Lys | Missense | 0.05% in COSMIC | Near C-terminal domain, may affect phosphorylation |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in POLR2A are rare and typically lethal due to essential role in transcription.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; most reported variants are missense with uncertain functional impact.
Dominant Negative (DN)
Dominant-negative effects have been proposed for some cancer-associated mutations, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • transcription initiation |
| • transcription elongation | • nucleus |
| • nucleoplasm |
Pathways
• RNA polymerase II transcription
• mRNA synthesis
• Transcription-coupled nucleotide excision repair
Protein Summary
POLR2A encodes the 220 kDa catalytic subunit of RNA polymerase II. It contains a C-terminal domain (CTD) with heptapeptide repeats that are phosphorylated during transcription. The protein is essential for all mRNA synthesis and is a target for alpha-amanitin and other inhibitors.
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