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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POLR3D
RNA polymerase III subunit D
Chromosome 8 · 8p21.3
NCBI Gene: 661Ensembl: ENSG00000168495.14HGNC: HGNC:1080UniProt: P05423
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase III complexchromatin bindingtranscription by RNA polymerase IIItranscription initiation at RNA polymerase III promoterAbruptio PlacentaeThrombocytopeniaautosomal dominant macrothrombocytopeniathrombocytopenia 4
✦AI Summary

POLR3D encodes RNA polymerase III (Pol III) subunit D, a peripheral component essential for Pol III-mediated transcription of small non-coding RNAs including 5S rRNA, tRNAs, snRNAs, and miRNAs 12. POLR3D assembles with POLR3E to form a subcomplex that enables Pol III recruitment at transcription initiation sites and drives transcription from type 2 and type 3 promoters, while facilitating efficient termination and reinitiation 123. Beyond its canonical transcriptional role, POLR3D participates in innate immune sensing by transcribing non-self DNA into dsRNA that triggers type I interferon responses via the RIG-I pathway 45. POLR3D expression is subject to epigenetic regulation through miRNA-directed transcriptional silencing, where miR-320 directs AGO1, EZH2, and H3K27me3 deposition at the POLR3D promoter 6. Biallelic pathogenic POLR3D variants cause POLR3-related leukodystrophy, a rare hypomyelinating disorder characterized by developmental delays, cerebellar dysfunction, and systemic features affecting endocrine and skeletal systems, with disease pathology linked to aberrant tRNA homeostasis 78. POLR3D dysfunction has been identified as an independent prognostic factor in osteosarcoma 9.

Sources cited
1
POLR3D is a specific peripheric component of RNA polymerase III that catalyzes transcription and is required for efficient transcription termination and reinitiation
PMID: 12391170
2
POLR3D functions in DNA-dependent RNA polymerase transcription and assembly with POLR3E for Pol III core binding
PMID: 20413673
3
POLR3D enables Pol III recruitment at transcription initiation sites and drives transcription initiation from type 2 and type 3 promoters
PMID: 35637192
4
Pol III participates in innate immune response by sensing intracellular DNA
PMID: 19609254
5
Pol III-derived transcripts induce type I interferon and NF-kappa-B through the RIG-I pathway
PMID: 19631370
6
miR-320 directs transcriptional silencing of POLR3D by recruiting AGO1, EZH2, and H3K27me3 to the POLR3D promoter
PMID: 18852463
7
Biallelic variants in POLR3D cause POLR3-related disorders with developmental phenotypes affecting central nervous system, eyes, connective tissues, and reproductive system
PMID: 40684265
8
Biallelic pathogenic variants in POLR3D cause POLR3-related leukodystrophy with hypomyelination, developmental delays, cerebellar dysfunction, and altered tRNA expression
PMID: 37915380
9
POLR3D is an independent prognostic factor in osteosarcoma
PMID: 40905463
Disease Associationsⓘ20
Abruptio PlacentaeOpen Targets
0.08Suggestive
ThrombocytopeniaOpen Targets
0.05Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.05Suggestive
thrombocytopenia 4Open Targets
0.04Suggestive
platelet-type bleeding disorder 15Open Targets
0.04Suggestive
thrombocytopenia 2Open Targets
0.03Suggestive
bleeding disorder, platelet-type, 24Open Targets
0.03Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.03Suggestive
platelet-type bleeding disorder 10Open Targets
0.03Suggestive
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndromeOpen Targets
0.03Suggestive
systemic sclerodermaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
osteosarcomaOpen Targets
0.01Suggestive
leukodystrophyOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
HypertriglyceridemiaOpen Targets
0.00Suggestive
metastatic neoplasmOpen Targets
0.00Suggestive
prostate carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNAPC5Protein interaction100%SNAPC4Protein interaction100%POLR2BProtein interaction100%POLR2LProtein interaction100%POLR2KProtein interaction100%POLR2EProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Lung
81%
Bone Marrow
77%
Brain
75%
Heart
75%
Liver
50%
Gene Interaction Network
Click a node to explore
POLR3DSNAPC5SNAPC4POLR2BPOLR2LPOLR2KPOLR2E
PROTEIN STRUCTURE
Preparing viewer…
PDB7AE1 · 2.80 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.22LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.72–1.22]
RankingsWhere POLR3D stands among ~20K protein-coding genes
  • #8,715of 20,598
    Most Researched51
  • #12,880of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedPOLR3D
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
PMID: 40684265
HGG Adv · 2025
1.00
2
Oral Delivery of miRNA With Lipidic Aminoglycoside Derivatives in the Breastfed Rat.
PMID: 31456698
Front Physiol · 2019
0.90
3
Exosomes and miRNA-Loaded Biomimetic Nanovehicles, a Focus on Their Potentials Preventing Type-2 Diabetes Linked to Metabolic Syndrome.
PMID: 30519245
Front Immunol · 2018
0.80
4
MicroRNA-directed transcriptional gene silencing in mammalian cells.
PMID: 18852463
Proc Natl Acad Sci U S A · 2008
0.70
5
Identification of EMT-related subtype and a 9 genes signature predicts the prognosis in osteosarcoma.
PMID: 40905463
Connect Tissue Res · 2026
0.60