POLR2L
RNA Polymerase II Subunit L
Gene Information Card
| Symbol | POLR2L |
|---|---|
| Full Name | RNA polymerase II, I and III subunit L |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 5441 ncbi.nlm.nih.gov/gene/5441 |
| Ensembl ID | ENSG00000177731 |
| UniProt ID | P62877 |
| OMIM ID | 180664 |
| HGNC ID | 9195 |
| Aliases | RPB10, RPB7, RPB7alpha, RPB10beta, RPB10gamma, RPB10delta, RPB10epsilon, RPB10zeta, RPB10eta, RPB10theta, RPB10iota, RPB10kappa, RPB10lambda, RPB10mu, RPB10nu, RPB10xi, RPB10omicron, RPB10pi, RPB10rho, RPB10sigma, RPB10tau, RPB10upsilon, RPB10phi, RPB10chi, RPB10psi, RPB10omega |
Description
POLR2L encodes a subunit of RNA polymerase II, the enzyme responsible for transcribing DNA into mRNA. This subunit is also shared with RNA polymerases I and III. It is essential for transcription initiation and elongation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific diseases directly associated | POLR2L is essential for transcription; mutations may contribute to developmental disorders or cancer susceptibility | Limited evidence; no direct disease association in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Spleen | 11.5 | Medium |
| Bone marrow | 10.9 | Medium |
| Brain | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 14.3 | Leukemia cell line |
| HeLa | 12.1 | Cervical cancer cell line |
| HEK293 | 11.8 | Embryonic kidney cell line |
| HepG2 | 10.5 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional impact |
| c.100C>T | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • protein binding |
| • nucleus | • cytoplasm |
| • transcription | • DNA-templated |
Pathways
• RNA polymerase II transcription
• RNA polymerase I transcription
• RNA polymerase III transcription
Protein Summary
POLR2L is a small subunit (approximately 7 kDa) shared among RNA polymerases I, II, and III. It is involved in the assembly and stability of the polymerase complex and is essential for transcription.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
