GTF3C4

Chr 9

general transcription factor IIIC subunit 4

The protein functions as an essential component of transcription factor TFIIIC complex, enabling RNA polymerase III to transcribe small nuclear and cytoplasmic RNAs including 5S rRNA and tRNA, and also has histone H3K14 acetyltransferase activity. GTF3C4 mutations have not been definitively associated with human disease, though the low LOEUF score (0.444) suggests intolerance to loss-of-function variants. The inheritance pattern and specific pathogenic mechanisms remain to be established through future clinical studies.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.44
Clinical SummaryGTF3C4
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.24) despite low pLI — interpret in context.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.44LOEUF
pLI 0.259
Z-score 3.85
OE 0.24 (0.130.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.42Z-score
OE missense 0.68 (0.620.75)
302 obs / 445.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.24 (0.130.44)
00.351.4
Missense OE0.68 (0.620.75)
00.61.4
Synonymous OE0.99
01.21.6
LoF obs/exp: 7 / 29.6Missense obs/exp: 302 / 445.5Syn Z: 0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GTF3C4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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