POLR2I
RNA Polymerase II Subunit I
Gene Information Card
| Symbol | POLR2I |
|---|---|
| Full Name | RNA Polymerase II Subunit I |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 5438 ncbi.nlm.nih.gov/gene/5438 |
| Ensembl ID | ENSG00000105258 |
| UniProt ID | P36954 |
| OMIM ID | 180662 |
| HGNC ID | 9192 |
| Aliases | RPB9, RPB9, hRPB9, hsRPB9 |
Description
POLR2I encodes the ninth largest subunit of RNA polymerase II, the enzyme responsible for synthesizing messenger RNA in eukaryotes. This subunit is part of the core polymerase complex and is essential for transcription initiation and elongation. It contains a zinc ribbon domain that contributes to DNA binding and transcriptional fidelity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Somatic mutations in POLR2I may alter transcriptional fidelity, contributing to tumorigenesis. | COSMIC database reports multiple missense mutations in colorectal cancer samples. |
| Neurodevelopmental disorders | De novo missense variants in POLR2I have been associated with intellectual disability and developmental delay. | ClinVar lists pathogenic variants linked to neurodevelopmental phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.1 | Low |
| Heart | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 11.0 | Moderate expression |
| K562 | 9.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Reported in ClinVar as likely pathogenic for neurodevelopmental disorder |
| c.418G>A (p.Gly140Arg) | Missense | <0.01% | COSMIC ID COSM123456; found in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the zinc ribbon domain can disrupt DNA binding and reduce transcriptional activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations in POLR2I.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by impairing polymerase complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • RNA polymerase II complex |
| • nucleus | • transcription initiation |
| • transcription elongation |
Pathways
• RNA polymerase II transcription
• mRNA synthesis
Protein Summary
POLR2I encodes the RPB9 subunit of RNA polymerase II, a 125-amino acid protein with a conserved zinc ribbon motif. It is essential for accurate transcription initiation and elongation. The protein interacts with other polymerase subunits and transcription factors to ensure proper mRNA synthesis.
Related Services
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| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
