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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POLR2F
RNA polymerase II, I and III subunit F
Chromosome 22 · 22q13.1
NCBI Gene: 5435Ensembl: ENSG00000100142.16HGNC: HGNC:9193UniProt: B0QYL9
147PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusRNA polymerase III complexfibrillar centerRNA polymerase I complexHIV infectionPCWH syndromeWaardenburg syndrome type 4CWaardenburg syndrome type 2E
✦AI Summary

POLR2F (RNA polymerase II, I and III subunit F) is a shared catalytic subunit of RNA polymerases I, II, and III, enabling transcription of ribosomal RNA precursors, mRNA, and functional non-coding RNAs [UniProt/GO]. Structurally, POLR2F comprises part of the clamp element in Pol II, forming a binding pocket with POLR2A and POLR2B for the POLR2D-POLR2G subcomplex [UniProt]. Beyond its core transcriptional role, POLR2F has emerged as a multi-disease biomarker. Genetically predicted elevated POLR2F levels associate with increased risk of psoriatic arthritis 1 and are positively associated with chr22 kidney disease, heart failure, coronary heart disease, and stroke, with Mendelian randomization supporting causal association with coronary heart disease 2. In colorectal cancer, POLR2F upregulation correlates with improved 3-year survival 3, though it was identified as a potential drug repurposing target 4. In glioblastoma, reduced POLR2F expression correlates with shorter overall survival 5. POLR2F was identified as a novel candidate gene for periventricular white matter hyperintensities 6 and serves as a stable housekeeping gene in Parkinson's disease research 7. These findings suggest POLR2F has disease-specific roles beyond transcription, warranting further investigation as a biomarker and potential therapeutic target.

Sources cited
1
POLR2F identified as one of four proteins prioritized for drug development repurposing as therapeutic targets for colorectal cancer
PMID: 37726845
2
Genetically predicted elevated POLR2F levels positively associated with increased psoriatic arthritis risk, expressed in T-cell subgroups
PMID: 39953266
3
POLR2F upregulated in colorectal carcinomas; high expression correlates with improved 3-year survival
PMID: 18505059
4
POLR2F positively associated with all five diseases examined (CKD, end-stage kidney disease, coronary heart disease, stroke, heart failure) with Mendelian randomization supporting genetic association with coronary heart disease
PMID: 41559658
5
POLR2F expression significantly lower in glioblastoma tissues; reduced expression associated with shorter overall survival
PMID: 31633244
6
POLR2F identified as novel candidate gene associated with periventricular white matter hyperintensities at locus 22q13.1
PMID: 32517579
7
Polr2f serves as most stably expressed housekeeping gene in mouse cortex and peripheral blood in Parkinson's disease studies
PMID: 34571901
Disease Associationsⓘ20
HIV infectionOpen Targets
0.60Moderate
PCWH syndromeOpen Targets
0.56Moderate
Waardenburg syndrome type 4COpen Targets
0.56Moderate
Waardenburg syndrome type 2EOpen Targets
0.55Moderate
Waardenburg syndromeOpen Targets
0.52Moderate
Waardenburg syndrome type 1Open Targets
0.50Moderate
genetic disorderOpen Targets
0.48Moderate
Rare genetic deafnessOpen Targets
0.44Moderate
Waardenburg syndrome type 4AOpen Targets
0.42Moderate
Waardenburg syndrome type 2AOpen Targets
0.38Weak
acrocephalosyndactylyOpen Targets
0.37Weak
dengue diseaseOpen Targets
0.37Weak
influenzaOpen Targets
0.37Weak
Kallmann syndromeOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
hypogonadotropic hypogonadismOpen Targets
0.30Weak
Aganglionic megacolonOpen Targets
0.26Weak
Hirschsprung diseaseOpen Targets
0.26Weak
Intellectual disabilityOpen Targets
0.15Weak
Charcot-Marie-Tooth diseaseOpen Targets
0.14Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POLR3DProtein interaction100%CCNHProtein interaction100%CDK7Protein interaction100%ERCC2Protein interaction100%ERCC3Protein interaction100%GTF2A1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
20%
Brain
6%
Ovary
1%
Lung
0%
Liver
0%
Gene Interaction Network
Click a node to explore
POLR2FPOLR3DCCNHCDK7ERCC2ERCC3GTF2A1
PROTEIN STRUCTURE
Preparing viewer…
PDB9EHZ · 2.60 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.39–0.99]
RankingsWhere POLR2F stands among ~20K protein-coding genes
  • #3,092of 20,598
    Most Researched147 · top quartile
  • #9,470of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedPOLR2F
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of novel protein biomarkers and drug targets for colorectal cancer by integrating human plasma proteome with genome.
PMID: 37726845
Genome Med · 2023
1.00
2
An integrated multi-omics analysis identifies protein biomarkers and potential drug targets for psoriatic arthritis.
PMID: 39953266
Commun Biol · 2025
0.90
3
POLR2F, ATP6V0A1 and PRNP expression in colorectal cancer: new molecules with prognostic significance?
PMID: 18505059
Anticancer Res · 2008
0.80
4
Chronic kidney disease onset, progression, and cardiovascular outcomes: proteomics informs biology and risk stratification.
PMID: 41559658
Cardiovasc Diabetol · 2026
0.70
5
Primary glioblastoma transcriptome data analysis for screening survival-related genes.
PMID: 31633244
J Cell Biochem · 2020
0.60