POLR2B
RNA Polymerase II Subunit B
Gene Information Card
| Symbol | POLR2B |
|---|---|
| Full Name | RNA Polymerase II Subunit B |
| Gene Type | Protein coding |
| Chromosomal Location | 4q12 |
| NCBI Gene ID | 5431 ncbi.nlm.nih.gov/gene/5431 |
| Ensembl ID | ENSG00000147315 |
| UniProt ID | P30876 |
| OMIM ID | 180661 |
| HGNC ID | 9191 |
| Aliases | RPB2, hsRPB2, POLR2B2 |
Description
POLR2B encodes the second largest subunit of RNA polymerase II, the enzyme responsible for transcribing DNA into messenger RNA and several non-coding RNAs. This subunit is essential for polymerase assembly and catalytic activity, and mutations have been linked to neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and variable intellectual disability | Missense mutations impair polymerase function leading to transcriptional dysregulation | ClinVar, OMIM |
| Amyotrophic lateral sclerosis (ALS) | Rare variants may alter RNA processing | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 8.3 | Medium |
| Liver | 6.1 | Medium |
| Testis | 10.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | High expression |
| K562 | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Reduced polymerase activity |
| c.2567A>G (p.Asn856Ser) | Missense | <0.01% | Impaired transcription |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reduce RNA polymerase II activity, leading to transcriptional deficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some mutations may exert dominant-negative effects by disrupting polymerase complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • nucleus |
| • nucleoplasm | • RNA polymerase II complex |
| • transcription initiation | • transcription elongation |
Pathways
• RNA polymerase II transcription
• mRNA synthesis
• Gene expression (Transcription)
Protein Summary
POLR2B encodes the 140 kDa subunit B of RNA polymerase II. This subunit contains the catalytic center and is required for initiation, elongation, and termination of transcription. It interacts with transcription factors and regulatory proteins.
Related Services
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| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
