POLR3E
Chr 16RNA polymerase III subunit E
Also known as: C37, RPC5, SIN
The protein is a component of RNA polymerase III that synthesizes small non-coding RNAs including tRNAs, 5S rRNA, and snRNAs, and also functions as a DNA sensor in innate immune responses. Mutations cause hypomyelinating leukodystrophy, which follows autosomal recessive inheritance and typically presents in infancy or early childhood with developmental delays and progressive neurological deterioration. The gene is highly constrained against loss-of-function variants (LOEUF 0.453), reflecting its essential cellular functions.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
264 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 54 | 0 | 54 |
Likely Pathogenic | 0 | 0 | 16 | 0 | 16 |
VUS | 0 | 109 | 46 | 0 | 155 |
Likely Benign | 0 | 4 | 4 | 1 | 9 |
Benign | 0 | 1 | 1 | 0 | 2 |
Conflicting | — | 4 | |||
| Total | 0 | 114 | 121 | 1 | 240 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
POLR3E · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools