POLR2K
RNA Polymerase II Subunit K
Gene Information Card
| Symbol | POLR2K |
|---|---|
| Full Name | RNA Polymerase II Subunit K |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.2 |
| NCBI Gene ID | 5440 ncbi.nlm.nih.gov/gene/5440 |
| Ensembl ID | ENSG00000147697 |
| UniProt ID | P53803 |
| OMIM ID | 606033 |
| HGNC ID | 9193 |
| Aliases | ABC10α, RPB10α, RPB12, RPABC4 |
Description
POLR2K is a protein-coding gene that encodes the smallest subunit of RNA polymerase II, the enzyme responsible for synthesizing messenger RNA in eukaryotes. This subunit is part of the core enzyme complex and is essential for transcription initiation and elongation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hearing loss, autosomal dominant 86 | Missense mutations in POLR2K disrupt RNA polymerase II function in cochlear hair cells, leading to progressive hearing loss. | ClinVar, OMIM |
| Colorectal cancer | Somatic mutations and altered expression of POLR2K may contribute to tumorigenesis through dysregulated transcription. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 18.5 | Medium |
| Kidney | 14.1 | Medium |
| Testis | 20.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 16.4 | Ubiquitous expression |
| HeLa | 14.7 | Ubiquitous expression |
| K562 | 13.9 | Ubiquitous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337G>A (p.Gly113Arg) | Missense | Rare | Associated with autosomal dominant hearing loss; alters protein stability |
| c.1A>G (p.Met1Val) | Missense | Very rare | Potential loss of start codon; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are rare and may impair RNA polymerase II assembly or activity, leading to reduced transcription.
Gain of Function (GOF)
No gain-of-function mutations have been reported for POLR2K.
Dominant Negative (DN)
Dominant-negative effects are hypothesized for certain missense mutations causing hearing loss, as the mutant subunit may disrupt the polymerase complex.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • RNA polymerase II complex |
| • nucleus | • transcription |
| • DNA-templated |
Pathways
• RNA polymerase II transcription
• mRNA synthesis
Protein Summary
POLR2K encodes a 58-amino acid protein (subunit K) that is a component of the RNA polymerase II core complex. It is highly conserved across eukaryotes and is essential for polymerase stability and function. The protein interacts with other subunits to form the active enzyme.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POLR2K Knockout HEK293 Cell Line | EDJ-KQ50525 | Human | 5440 | Details Get a Quote |
| POLR2K Knockout HeLa Cell Line | EDJ-KQ54172 | Human | 5440 | Details Get a Quote |
| POLR2K Knockout A-549 Cell Line | EDJ-KQ62669 | Human | 5440 | Details Get a Quote |
| POLR2K Knockout HCT 116 Cell Line | EDJ-KQ71136 | Human | 5440 | Details Get a Quote |
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