POLR2M
RNA Polymerase II Subunit M
Gene Information Card
| Symbol | POLR2M |
|---|---|
| Full Name | RNA Polymerase II Subunit M |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 8148 ncbi.nlm.nih.gov/gene/8148 |
| Ensembl ID | ENSG00000105639 |
| UniProt ID | Q9H1A4 |
| OMIM ID | 618527 |
| HGNC ID | 9196 |
| Aliases | RPB11, RPB11b, POLR2J2 |
Description
POLR2M encodes a subunit of RNA polymerase II, the enzyme responsible for transcribing DNA into mRNA. This subunit is part of the core enzyme complex and is involved in transcription initiation and elongation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may affect transcription fidelity | COSMIC database reports somatic mutations in multiple cancer types |
| Neurodevelopmental disorders | Potential role in transcriptional dysregulation | Limited evidence from ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.1 | Moderate expression |
| HeLa | 9.8 | Low expression |
| K562 | 7.4 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of polymerase function
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data:
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • nucleus |
| • transcription | • RNA polymerase II complex |
Pathways
• RNA polymerase II transcription
• Gene expression (transcription)
Protein Summary
POLR2M is a 117-amino acid protein that forms part of the RNA polymerase II core. It interacts with other subunits to stabilize the enzyme complex and facilitate RNA synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POLR2M Knockout HEK293 Cell Line | EDJ-KQ9696 | Human | 81488 | Details Get a Quote |
| POLR2M Knockout A-549 Cell Line | EDJ-KQ36467 | Human | 81488 | Details Get a Quote |
| POLR2M Knockout HCT 116 Cell Line | EDJ-KQ36468 | Human | 81488 | Details Get a Quote |
| POLR2M Knockout HeLa Cell Line | EDJ-KQ36469 | Human | 81488 | Details Get a Quote |