POLR2J2: RNA Polymerase II Subunit J2
A component of the DNA-directed RNA polymerase II complex involved in transcription initiation and elongation.
Gene Information Card
| Symbol | POLR2J2 |
|---|---|
| Full Name | RNA polymerase II subunit J2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 5434 ncbi.nlm.nih.gov/gene/5434 |
| Ensembl ID | ENSG00000106348 |
| UniProt ID | Q9GZM3 |
| OMIM ID | 618525 |
| HGNC ID | 9197 |
| Aliases | RPB11b, POLR2Jb, hRPB11b |
Description
POLR2J2 encodes a 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 involved in transcription initiation and elongation. The gene is located on chromosome 7q22.1 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder | Disruption of transcription complex assembly | ClinVar pathogenic variant |
| Cancer (pan-cancer) | Altered expression affecting transcription fidelity | COSMIC somatic mutations |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Likely benign |
| c.100C>T | Nonsense | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein and reduced transcription activity.
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 | • DNA-templated |
| • RNA polymerase II complex |
Pathways
• RNA polymerase II transcription
• Transcription initiation from RNA polymerase II promoter
Protein Summary
POLR2J2 encodes the RPB11b subunit of RNA polymerase II. This 117-amino acid protein is part of the core enzyme and interacts with other subunits to form the active transcription complex. It is essential for proper mRNA synthesis and cellular function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POLR2J2 Knockout HEK293 Cell Line | EDJ-KQ11552 | Human | 246721 | Details Get a Quote |
| POLR2J2 Knockout HCT 116 Cell Line | EDJ-KQ38554 | Human | 246721 | Details Get a Quote |
| POLR2J2 Knockout HeLa Cell Line | EDJ-KQ59232 | Human | 246721 | Details Get a Quote |
| POLR2J2 Knockout A-549 Cell Line | EDJ-KQ67700 | Human | 246721 | Details Get a Quote |
