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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POLR3C
RNA polymerase III subunit C
Chromosome 1 · 1q21.1
NCBI Gene: 10623Ensembl: ENSG00000186141.11HGNC: HGNC:30076UniProt: Q9BUI4
66PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmRNA polymerase III complextranscription initiation at RNA polymerase III promotertermination of RNA polymerase III transcriptionneurodegenerative diseasebreast carcinomamathematical abilitysystemic juvenile idiopathic arthritis
✦AI Summary

POLR3C encodes RNA polymerase III subunit C, a peripheral component of the multisubunit RNA polymerase III (Pol III) complex 1. As part of the POLR3C/RPC3-POLR3F/RPC6-POLR3G/RPC7 heterotrimer, POLR3C coordinates dynamics of Pol III's stalk and clamp modules during transcription initiation and elongation. Pol III synthesizes small non-coding RNAs including 5S rRNA, snRNAs, tRNAs, and miRNAs from ~500 genomic loci. Beyond its transcriptional role, POLR3C functions as a cytosolic DNA sensor in innate immunity 2. It detects non-self dsDNA and endogenous mitochondrial DNA released during viral infection, triggering type I interferon responses through the RIG-I pathway 3. POLR3C preferentially binds single-stranded DNA in a sequence-independent manner. Clinically, heterozygous loss-of-function mutations in POLR3C cause monogenic or digenic immunodeficiency conferring susceptibility to severe varicella zoster virus encephalitis and pneumonitis in otherwise healthy children 3. Similarly, POLR3C variants impair type I interferon responses to SARS-CoV-2 infection and symptomatic acute hepatitis E 24. POLR3C mutations are also associated with hypomyelinating leukodystrophy and identified as tumor neoantigens in hepatocellular carcinoma 15.

Sources cited
1
POLR3C mutations cause tissue-specific diseases including susceptibility to VZV encephalitis and hypomyelinating leukodystrophy
PMID: 34395528
2
POLR3C variants impair type I IFN responses to mitochondrial DNA and SARS-CoV-2, establishing Pol III as mtDNA sensor
PMID: 41838921
3
Heterozygous POLR3C mutations cause severe VZV infection through defective interferon induction in response to DNA
PMID: 28783042
4
POLR3C variants enriched in symptomatic acute hepatitis E patients, highlighting type I interferon pathway's essential role
PMID: 38079352
5
POLR3C identified as tumor-specific neoantigen in hepatocellular carcinoma related to inferior prognosis
PMID: 36239794
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
breast carcinomaOpen Targets
0.14Weak
mathematical abilityOpen Targets
0.05Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
Abnormal sperm morphologyOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
systemic sclerodermaOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
ThrombocytopeniaOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
encephalitisOpen Targets
0.00Suggestive
asthmaOpen Targets
0.00Suggestive
neuropathyOpen Targets
0.00Suggestive
skin cancerOpen Targets
0.00Suggestive
schizophreniaOpen Targets
0.00Suggestive
pneumonitisOpen Targets
0.00Suggestive
bipolar disorderOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POLR1CProtein interaction100%POLR2BProtein interaction100%BDP1Protein interaction100%GTF2E1Protein interaction99%TBPProtein interaction98%POLR1AProtein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
100%
Ovary
99%
Lung
85%
Heart
78%
Liver
54%
Gene Interaction Network
Click a node to explore
POLR3CPOLR1CPOLR2BBDP1GTF2E1TBPPOLR1A
PROTEIN STRUCTURE
Preparing viewer…
PDB2XUB · 2.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.06LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.46–1.06]
RankingsWhere POLR3C stands among ~20K protein-coding genes
  • #7,103of 20,598
    Most Researched66
  • #10,625of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedPOLR3C
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RNA Polymerase III Subunit Mutations in Genetic Diseases.
PMID: 34395528
Front Mol Biosci · 2021
1.00
2
Identification of tumor-specific neoantigens and immune clusters of hepatocellular carcinoma for mRNA vaccine development.
PMID: 36239794
J Cancer Res Clin Oncol · 2023
0.90
3
Defective RNA Polymerase III sensing of mitochondrial DNA in pulmonary epithelial cells impairs type I IFN immunity to SARS-CoV-2.
PMID: 41838921
Proc Natl Acad Sci U S A · 2026
0.80
4
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.
PMID: 28783042
J Clin Invest · 2017
0.70
5
Inborn errors of type I interferon immunity in patients with symptomatic acute hepatitis E.
PMID: 38079352
Hepatology · 2024
0.60