AlphaFold predicted structure
GTF2I · P78347
Mean pLDDT
68.4/ 100
Low
998 residues
Confidence breakdown
- Very high(≥ 90)28%
- Confident(70–90)31%
- Low(50–70)5%
- Very low(< 50)35%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
GTF2I
Chr 7q11.23general transcription factor IIi
- Aliases:
- TFII-I, BAP-135, SPIN, BTKAP1, DIWS
- MANE:
- ENST00000573035.6
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
neurodegenerative disease
0.55type 2 diabetes mellitus
0.49atrial fibrillation
0.49Abnormality of the skeletal system
0.47hypertensive disorder
0.46systemic lupus erythematosus
0.43essential hypertension
0.42heart failure
0.41thymic carcinoma
0.37inflammatory bowel disease
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
General transcription factor II-I
Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation