POLR2J
RNA Polymerase II Subunit J
Gene Information Card
| Symbol | POLR2J |
|---|---|
| Full Name | RNA Polymerase II Subunit J |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 5439 ncbi.nlm.nih.gov/gene/5439 |
| Ensembl ID | ENSG00000106344 |
| UniProt ID | P52435 |
| OMIM ID | 604414 |
| HGNC ID | 9196 |
| Aliases | RPB11, RPB11a, hRPB11, POLR2J1 |
Description
POLR2J encodes the RPB11 subunit of RNA polymerase II, the enzyme responsible for transcribing protein-coding genes and many non-coding RNAs in eukaryotes. RPB11 is a core component of the polymerase complex and is essential for transcription initiation, elongation, and regulation. The gene is located on chromosome 7q22.1 and is expressed ubiquitously.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Somatic mutations and altered expression of POLR2J may disrupt transcription fidelity and regulation, contributing to tumorigenesis. | COSMIC database reports mutations in multiple cancer types including colorectal, lung, and breast cancer. |
| Neurodegenerative disorders | Dysregulation of RNA polymerase II subunits, including POLR2J, has been implicated in neuronal dysfunction and degeneration. | NCBI Gene and literature suggest association with altered transcription in neurodegenerative contexts. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 8.9 | Low |
| Kidney | 11.3 | Medium |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 13.8 | High expression |
| K562 | 11.5 | Medium expression |
| A549 | 12.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of function due to start codon disruption |
| c.100C>T (p.Arg34Trp) | Missense | 0.01% | Unknown functional effect; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the start codon or critical structural residues likely impair RNA polymerase II assembly and activity.
Gain of Function (GOF)
No documented gain-of-function mutations for POLR2J.
Dominant Negative (DN)
No evidence of dominant-negative effects for POLR2J mutations.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • RNA polymerase II core complex |
| • transcription initiation | • transcription elongation |
| • nucleus |
Pathways
• RNA polymerase II transcription
• Transcription-coupled nucleotide excision repair
Protein Summary
POLR2J encodes the RPB11 subunit, a core component of RNA polymerase II. This subunit is essential for the assembly and stability of the polymerase complex and participates in transcription initiation and elongation. RPB11 interacts with other polymerase subunits and transcription factors to regulate gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POLR2J2 Knockout HEK293 Cell Line | EDJ-KQ11552 | Human | 246721 | Details Get a Quote |
| POLR2J3 Knockout HEK293 Cell Line | EDJ-KQ14831 | Human | 548644 | Details Get a Quote |
| POLR2J2 Knockout HCT 116 Cell Line | EDJ-KQ38554 | Human | 246721 | 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 |
| POLR2J Knockout HEK293 Cell Line | EDJ-KQ50524 | Human | 5439 | Details Get a Quote |
| POLR2J Knockout HeLa Cell Line | EDJ-KQ54171 | Human | 5439 | Details Get a Quote |
| POLR2J2 Knockout HeLa Cell Line | EDJ-KQ59232 | Human | 246721 | Details Get a Quote |
| POLR2J Knockout A-549 Cell Line | EDJ-KQ62668 | Human | 5439 | Details Get a Quote |
| POLR2J2 Knockout A-549 Cell Line | EDJ-KQ67700 | Human | 246721 | Details Get a Quote |
| POLR2J Knockout HCT 116 Cell Line | EDJ-KQ71135 | Human | 5439 | Details Get a Quote |
