GTF3A

Chr 13

general transcription factor IIIA

Also known as: AP2, TFIIIA

The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.60
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.60LOEUF
pLI 0.000
Z-score -0.22
OE 1.06 (0.72–1.60)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.14Z-score
OE missense 1.03 (0.91–1.16)
195 obs / 189.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.06 (0.72–1.60)
0≤0.351.4
Missense OE?1.03 (0.91–1.16)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 16 / 15.1Missense obs/exp: 195 / 189.8Syn Z: 0.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GTF3A · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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