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GeneE
2 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POLR2I
RNA polymerase II subunit I
Chromosome 19 · 19q13.12
NCBI Gene: 5438Ensembl: ENSG00000105258.9HGNC: HGNC:9196UniProt: P36954
139PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription by RNA polymerase IItranscription initiation at RNA polymerase II promotertranscription elongation by RNA polymerase IInucleoplasmHIV infectionacrocephalosyndactylyinfluenzadengue disease
✦AI Summary

POLR2I (RPB9) is a core component of RNA polymerase II, positioning itself in the upper jaw structure surrounding the central cleft to facilitate DNA template engagement. As part of the basal transcription machinery, it functions in transcription initiation, elongation, and fidelity maintenance, as well as transcription-coupled nucleotide-excision repair. Based on limited published evidence, POLR2I has been identified as a key regulatory node in coronary artery disease networks 1 and emerges as a novel gene associated with particulate matter-induced cardiac disease through altered methylation and transcriptional patterns 2.

Sources cited
1
POLR2I identified as a key driver in cross-tissue regulatory gene networks associated with coronary artery disease pathogenesis
PMID: 27135365
2
POLR2I identified as a novel gene with differential methylation and expression patterns associated with PM2.5-induced cardiac disease
PMID: 30286548
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
HIV infectionOpen Targets
0.60Moderate
acrocephalosyndactylyOpen Targets
0.37Weak
dengue diseaseOpen Targets
0.37Weak
influenzaOpen Targets
0.37Weak
schizophreniaOpen Targets
0.15Weak
membranous glomerulonephritisOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
Abnormal sperm morphologyOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
hypertensive nephropathyOpen Targets
0.01Suggestive
nasopharyngeal carcinomaOpen Targets
0.01Suggestive
Melnick-Needles syndromeOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
myxosarcomaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Huntington diseaseOpen Targets
0.00Suggestive
systemic sclerodermaOpen Targets
0.00Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
multiple myelomaOpen Targets
0.00Suggestive
AtaxiaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POLR3DProtein interaction100%CCNHProtein interaction100%GTF2A1Protein interaction100%GTF2A2Protein interaction100%GTF2BProtein interaction100%GTF2E1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
56%
Heart
55%
Ovary
43%
Lung
30%
Bone Marrow
17%
Gene Interaction Network
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POLR2IPOLR3DCCNHGTF2A1GTF2A2GTF2BGTF2E1
PROTEIN STRUCTURE
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PDB9EHZ · 2.60 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.41–0.94]
RankingsWhere POLR2I stands among ~20K protein-coding genes
  • #3,317of 20,598
    Most Researched139 · top quartile
  • #8,797of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedPOLR2I
Sources retrieved2 papers
Response time—
📄 Sources
2
1
Cross-Tissue Regulatory Gene Networks in Coronary Artery Disease.
PMID: 27135365
Cell Syst · 2016
1.00
2
Integrative analysis of methylome and transcriptome variation of identified cardiac disease-specific genes in human cardiomyocytes after PM
PMID: 30286548
Chemosphere · 2018
0.50