GTF3C3
Chr 2ARgeneral transcription factor IIIC subunit 3
Also known as: NEDFBS, TFIIIC102, TFIIICgamma, TFiiiC2-102
The protein is an integral component of the TFIIIC2 complex that directly binds tRNA and viral RNA promoters to recruit RNA polymerase III for transcription of small nuclear and cytoplasmic RNAs. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures. The gene is highly constrained against loss-of-function variants (LOEUF 0.588), indicating intolerance to reduced protein function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GTF3C3 · 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