POLR2J3: RNA Polymerase II Subunit J3
A component of RNA polymerase II involved in transcription initiation and elongation.
Gene Information Card
| Symbol | POLR2J3 |
|---|---|
| Full Name | RNA polymerase II subunit J3 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 548644 ncbi.nlm.nih.gov/gene/548644 |
| Ensembl ID | ENSG00000164821 |
| UniProt ID | P52435 |
| OMIM ID | 604414 |
| HGNC ID | 9196 |
| Aliases | RPB11b, hRPB11b, POLR2J2 |
Description
POLR2J3 encodes a subunit of RNA polymerase II, the enzyme responsible for transcribing DNA into mRNA. This subunit is part of the core enzyme and is involved in transcription initiation and elongation. The gene is located on chromosome 7q22.1 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM as of current data | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Heart | 6.3 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Moderate expression |
| HeLa | 9.5 | Moderate expression |
| K562 | 7.8 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar or COSMIC | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
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
• Gene expression (Transcription)
Protein Summary
POLR2J3 encodes the RPB11b subunit of RNA polymerase II. This protein is essential for the assembly and function of the polymerase complex, contributing to the transcription of protein-coding genes. It is ubiquitously expressed with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POLR2J3 Knockout HEK293 Cell Line | EDJ-KQ14831 | Human | 548644 | Details Get a Quote |
| POLR2J3 Knockout A-549 Cell Line | EDJ-KQ45274 | Human | 548644 | Details Get a Quote |
| POLR2J3 Knockout HCT 116 Cell Line | EDJ-KQ45275 | Human | 548644 | Details Get a Quote |
| POLR2J3 Knockout HeLa Cell Line | EDJ-KQ45276 | Human | 548644 | Details Get a Quote |