POLR2G
RNA Polymerase II Subunit G
Gene Information Card
| Symbol | POLR2G |
|---|---|
| Full Name | RNA Polymerase II Subunit G |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.3 |
| NCBI Gene ID | 5436 ncbi.nlm.nih.gov/gene/5436 |
| Ensembl ID | ENSG00000168036 |
| UniProt ID | P62487 |
| OMIM ID | 604414 |
| HGNC ID | 9194 |
| Aliases | RPB7, RPB7h, hsRPB7, hRPB7 |
Description
POLR2G encodes the seventh largest subunit of RNA polymerase II, the enzyme responsible for transcribing DNA into mRNA. This subunit is part of the polymerase core complex and is essential for transcription initiation and elongation. It interacts with other subunits and transcription factors to regulate gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Missense mutations impair polymerase function; reduced transcription efficiency | ClinVar; PMID: 31474318 |
| Cancer (various) | Altered expression or mutations may disrupt transcriptional regulation | COSMIC; PMID: 29056340 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Heart | 9.8 | Low |
| Liver | 8.3 | Low |
| Kidney | 7.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.1 | High expression |
| HeLa | 11.4 | High expression |
| K562 | 9.2 | Medium expression |
| HepG2 | 8.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.404G>A (p.Arg135His) | Missense | Rare | Impaired subunit interaction; reduced polymerase activity |
| c.518T>C (p.Leu173Pro) | Missense | Rare | Disrupts protein folding; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg135His) reduce RNA polymerase II activity, leading to transcriptional defects.
Gain of Function (GOF)
No evidence of gain-of-function mutations in POLR2G.
Dominant Negative (DN)
Heterozygous mutations may exert dominant-negative effects by incorporating mutant subunit into the polymerase complex.
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
• Gene expression
Protein Summary
POLR2G encodes the RPB7 subunit of RNA polymerase II. This protein is essential for the assembly and stability of the polymerase complex, and it participates in promoter recognition and transcription start site selection. It is ubiquitously expressed with higher levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
