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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
POLR3H
RNA polymerase III subunit H
Chromosome 22 · 22q13.2
NCBI Gene: 171568Ensembl: ENSG00000100413.17HGNC: HGNC:30349UniProt: F8WDV1
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmtermination of RNA polymerase III transcriptioncentrosomenucleobase-containing compound metabolic processinfantile cerebellar-retinal degenerationAutosomal dominant optic atrophy, classic typeoptic atrophygenetic disorder
✦AI Summary

POLR3H encodes RNA polymerase III (Pol III) subunit H, a peripheral component of the Pol III complex that catalyzes transcription of DNA into RNA 1. As part of Pol III, POLR3H participates in synthesizing small non-coding RNAs including 5S rRNA, tRNAs, snRNAs, and miRNAs. POLR3H forms a mobile stalk structure with CRCP/RPC9 that functions primarily in transcription initiation 1. Beyond its canonical transcriptional role, Pol III functions as a nuclear and cytosolic DNA sensor in innate immunity, detecting non-self dsDNA and triggering type I interferon responses through the RIG-I pathway 1. Clinically, POLR3H mutations cause primary ovarian insufficiency (POI), a form of female infertility characterized by premature ovarian failure before age 40 2. A pathogenic homozygous missense mutation (p.Asp50Gly) in POLR3H was identified in families with idiopathic POI 2. Mouse models carrying this mutation showed delayed pubertal development, decreased fertility, reduced ovarian Foxo3a expression, and diminished primary follicle numbers 2. POLR3H mutations represent a rare but important genetic cause of POI, supporting the need for genetic screening to improve counseling and patient management 3. POLR3H also appears implicated in neurological traits through brain-specific expression quantitative trait loci associations 4.

Sources cited
1
POLR3H encodes a Pol III subunit; Pol III transcribes small RNAs; POLR3H mutations cause genetic diseases including rare disorders
PMID: 34395528
2
Homozygous POLR3H mutation (p.Asp50Gly) causes primary ovarian insufficiency; animal models show delayed puberty, decreased fertility, and reduced ovarian follicles
PMID: 30830215
3
POLR3H is among genes associated with nonsyndromic POI implicated in meiosis/DNA repair pathways
PMID: 34794894
4
POLR3H brain-specific eQTL pairs are implicated in neurological disorders
PMID: 38812329
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
infantile cerebellar-retinal degenerationOpen Targets
0.52Moderate
Autosomal dominant optic atrophy, classic typeOpen Targets
0.49Moderate
optic atrophyOpen Targets
0.47Moderate
genetic disorderOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.40Weak
46,XX gonadal dysgenesisOpen Targets
0.38Weak
46 XX gonadal dysgenesisOpen Targets
0.37Weak
iron metabolism diseaseOpen Targets
0.28Weak
polypOpen Targets
0.20Weak
primary ovarian insufficiencyOpen Targets
0.20Weak
asthmaOpen Targets
0.15Weak
mitochondrial diseaseOpen Targets
0.12Weak
Retinal dystrophyOpen Targets
0.12Weak
respiratory system diseaseOpen Targets
0.09Suggestive
allergic rhinitisOpen Targets
0.08Suggestive
obesityOpen Targets
0.07Suggestive
Abnormal thrombosisOpen Targets
0.07Suggestive
bladder calculusOpen Targets
0.07Suggestive
smoking cessationOpen Targets
0.07Suggestive
allergic diseaseOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POLR2BProtein interaction100%GTF2E1Protein interaction99%TBPProtein interaction98%POLR3DProtein interaction94%POLR2EProtein interaction94%POLR2FProtein interaction94%
Tissue Expression6 tissues
Ovary
100%
Liver
84%
Lung
66%
Brain
64%
Heart
64%
Bone Marrow
52%
Gene Interaction Network
Click a node to explore
POLR3HPOLR2BGTF2E1TBPPOLR3DPOLR2EPOLR2F
PROTEIN STRUCTURE
Preparing viewer…
PDB7AE1 · 2.80 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.40–0.94]
RankingsWhere POLR3H stands among ~20K protein-coding genes
  • #11,040of 20,598
    Most Researched35
  • #8,708of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedPOLR3H
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab · 2022
1.00
2
RNA Polymerase III Subunit Mutations in Genetic Diseases.
PMID: 34395528
Front Mol Biosci · 2021
0.89
3
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
PMID: 40684265
HGG Adv · 2025
0.78
4
RNA Polymerase Subunits and Ribosomal Proteins: An Overview and Their Genetic Impact on Complex Human Traits.
PMID: 38812329
Front Biosci (Landmark Ed) · 2024
0.67
5
Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.
PMID: 32099950
J Endocr Soc · 2020
0.56