GTF3C5
Chr 9general transcription factor IIIC subunit 5
Also known as: TFIIIC63, TFIIICepsilon, TFiiiC2-63
The GTF3C5 protein functions as an integral component of the TFIIIC2 transcription factor complex that directly binds tRNA and viral RNA promoters to enable RNA polymerase III-mediated transcription of tRNA and 5S ribosomal RNA. The extremely low pLI score and LOEUF score of 0.89 suggest the gene is relatively tolerant to loss-of-function variants, and no specific disease associations are established in the provided data. Clinical significance of GTF3C5 variants in pediatric neurogenetic disorders remains to be determined.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
166 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 | 35 | 0 | 35 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 1 | 92 | 16 | 0 | 109 |
Likely Benign | 0 | 4 | 1 | 4 | 9 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 96 | 53 | 4 | 154 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GTF3C5 · 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 →No open access results found
External Resources
Links to major genomics databases and tools