GTF3A

Chr 13q12.2

general transcription factor IIIA

Aliases:: TFIIIA, AP2
MANE:: ENST00000381140.10

OMIM: 600860 ↗NCBI: 2971 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GTF3A · Q92664

v62025-08-01

Predicted Aligned Error matrix for GTF3A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.7/ 100

Low

365 residues

Confidence breakdown

Very high(≥ 90)6%
Confident(70–90)64%
Low(50–70)7%
Very low(< 50)23%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.49
Abnormality of the skeletal system
0.41
cervical carcinoma
0.28
placenta praevia
0.28
type 2 diabetes mellitus
0.27
adolescent idiopathic scoliosis
0.24
common variable immunodeficiency
0.19
breast carcinoma
0.19
ovarian neoplasm
0.18
colorectal carcinoma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription factor IIIA

Involved in ribosomal large subunit biogenesis. Binds the approximately 50 base pairs internal control region (ICR) of 5S ribosomal RNA genes. It is required for their RNA polymerase III-dependent transcription and may also maintain the transcription of other genes (PubMed:24120868). Also binds the transcribed 5S RNA's (By similarity)