AlphaFold predicted structure
TBX1 · O43435
Mean pLDDT
68.2/ 100
Low
398 residues
Confidence breakdown
- Very high(≥ 90)43%
- Confident(70–90)8%
- Low(50–70)7%
- Very low(< 50)43%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
TBX1
Chr 22q11.21T-box transcription factor 1
- Aliases:
- CATCH22
- MANE:
- ENST00000649276.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCOVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial hypoparathyroidism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPrimary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFamilial non syndromic congenital heart disease
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Disease associations (Open Targets)
22q11.2 deletion syndrome
0.84conotruncal heart malformations
0.65Tetralogy of Fallot
0.57prostate carcinoma
0.50nasal cavity polyp
0.44neurodegenerative disease
0.41hereditary disease
0.37T-B- severe combined immunodeficiency
0.37T-B+ severe combined immunodeficiency
0.37hypertrophic cardiomyopathy
0.36
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
T-box transcription factor TBX1
Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle development (By similarity). Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2 (By similarity). Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (By similarity). Required for hair follicle stem cell self-renewal (By similarity). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence (PubMed:11111039, PubMed:22095455)
Diseases associated with TBX1
Curated MONDO disease pages that list TBX1 among their top associated genes.