AlphaFold predicted structure
TBR1 · Q16650
Mean pLDDT
55.0/ 100
Low
682 residues
Confidence breakdown
- Very high(≥ 90)23%
- Confident(70–90)3%
- Low(50–70)7%
- Very low(< 50)67%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
TBR1
Chr 2q24.2T-box brain transcription factor 1
- MANE:
- ENST00000389554.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
autism spectrum disorder
0.74autism
0.56hereditary disease
0.51Moderate global developmental delay
0.49Intellectual disability
0.47complex neurodevelopmental disorder
0.46neurodevelopmental disorder
0.45Seizure
0.44Autistic behavior
0.42Severe global developmental delay
0.42
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
T-box brain protein 1
Transcriptional repressor involved in multiple aspects of cortical development, including neuronal migration, laminar and areal identity, and axonal projection (PubMed:25232744, PubMed:30250039). As transcriptional repressor of FEZF2, it blocks the formation of the corticospinal (CS) tract from layer 6 projection neurons, thereby restricting the origin of CS axons specifically to layer 5 neurons (By similarity)
Diseases associated with TBR1
Curated MONDO disease pages that list TBR1 among their top associated genes.