POLR2H
RNA Polymerase II Subunit H
Gene Information Card
| Symbol | POLR2H |
|---|---|
| Full Name | RNA Polymerase II Subunit H |
| Gene Type | Protein coding |
| Chromosomal Location | 3q28 |
| NCBI Gene ID | 5437 ncbi.nlm.nih.gov/gene/5437 |
| Ensembl ID | ENSG00000163882 |
| UniProt ID | P52434 |
| OMIM ID | 606023 |
| HGNC ID | 9195 |
| Aliases | RPB8, RPB17, RPABC3, POLR2H |
Description
POLR2H encodes subunit H of RNA polymerase II, the enzyme responsible for transcribing DNA into mRNA. This subunit is part of the core polymerase complex and is essential for transcription initiation and elongation. It is also a component of RNA polymerases I and III, indicating a shared role in all nuclear transcription.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Somatic mutations in POLR2H may alter transcription fidelity or polymerase assembly, contributing to tumorigenesis. | COSMIC database reports multiple missense and nonsense mutations across various cancers. |
| Neurodevelopmental disorders | Rare germline variants in POLR2H have been associated with intellectual disability and developmental delay, likely due to impaired transcription. | ClinVar and literature case reports. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Liver | 9.2 | Medium |
| Kidney | 11.3 | Medium |
| Lung | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | Ubiquitous expression |
| HeLa | 13.5 | Ubiquitous expression |
| K562 | 12.8 | Ubiquitous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.1% | Reported in neurodevelopmental disorder; likely loss of function |
| c.482G>A (p.Arg161Gln) | Missense | <0.1% | Found in COSMIC for colorectal cancer; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Missense or nonsense mutations that disrupt subunit folding or polymerase binding reduce transcription efficiency.
Gain of Function (GOF)
Not described for POLR2H.
Dominant Negative (DN)
Some missense variants may interfere with polymerase complex assembly, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • nucleus |
| • RNA polymerase II complex | • transcription |
| • mRNA processing |
Pathways
• RNA polymerase II transcription
• Transcription initiation
• RNA polymerase I and III transcription
Protein Summary
POLR2H (RPB8) is a 17 kDa subunit common to all three nuclear RNA polymerases. It stabilizes the polymerase core and participates in DNA binding. The protein is highly conserved and essential for cell viability.
Related Services
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|---|---|---|---|---|
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