POLR2F
RNA Polymerase II Subunit F
Gene Information Card
| Symbol | POLR2F |
|---|---|
| Full Name | RNA Polymerase II Subunit F |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 5435 ncbi.nlm.nih.gov/gene/5435 |
| Ensembl ID | ENSG00000100218 |
| UniProt ID | P61218 |
| OMIM ID | 604414 |
| HGNC ID | 9193 |
| Aliases | RPB6, POLRF, RPB6.5, RPB6.7, hRPB6 |
Description
POLR2F encodes the sixth largest subunit of RNA polymerase II, the enzyme responsible for transcribing protein-coding genes in eukaryotes. This subunit is essential for polymerase assembly, stability, and interaction with transcription factors. It is part of the core RNA polymerase II complex and is highly conserved across species.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Missense mutations in POLR2F impair RNA polymerase II function, leading to reduced transcription of key neuronal genes | ClinVar, OMIM |
| Cancer (pan-cancer) | Altered POLR2F expression or mutations may contribute to transcriptional dysregulation in tumors | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 8.9 | Low |
| Kidney | 11.3 | Medium |
| Lung | 9.7 | Low |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | High expression |
| HeLa | 12.8 | Medium expression |
| K562 | 11.5 | Medium expression |
| A549 | 10.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337G>A (p.Gly113Arg) | Missense | Rare | Impaired polymerase assembly and transcription activity |
| c.404A>G (p.Asn135Ser) | Missense | Rare | Reduced protein stability and interaction with other subunits |
Mutation functional classification
Loss of Function (LOF)
Missense mutations that disrupt subunit folding or assembly lead to loss of RNA polymerase II function.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Some mutations may exert dominant-negative effects by incorporating into the polymerase complex and impairing its activity.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • RNA polymerase II complex |
| • Nucleus | • Transcription |
| • DNA-templated | • Protein binding |
Pathways
• RNA polymerase II transcription
• Transcription by RNA polymerase II
Protein Summary
POLR2F encodes a 127-amino acid protein (14.5 kDa) that forms part of the RNA polymerase II core complex. It is essential for polymerase assembly and interacts with other subunits to stabilize the enzyme. The protein contains a conserved domain that mediates binding to the polymerase core and is required for efficient transcription initiation and elongation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POLR2F Knockout HEK293 Cell Line | EDJ-KQ50523 | Human | 5435 | Details Get a Quote |
| POLR2F Knockout HeLa Cell Line | EDJ-KQ54170 | Human | 5435 | Details Get a Quote |
| POLR2F Knockout A-549 Cell Line | EDJ-KQ62667 | Human | 5435 | Details Get a Quote |
| POLR2F Knockout HCT 116 Cell Line | EDJ-KQ71134 | Human | 5435 | Details Get a Quote |
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