AlphaFold predicted structure
TBX5 · Q99593
Mean pLDDT
62.7/ 100
Low
518 residues
Confidence breakdown
- Very high(≥ 90)33%
- Confident(70–90)6%
- Low(50–70)8%
- Very low(< 50)53%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
TBX5
Chr 12q24.21T-box transcription factor 5
- MANE:
- ENST00000405440.7
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial non syndromic congenital heart disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLimb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRadial dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedVACTERL-like phenotypes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
Holt-Oram syndrome
0.83aortic valve disease 2
0.57atrial fibrillation
0.56Abnormality of the cardiovascular system
0.53Abnormality of the skeletal system
0.51atrial flutter
0.48cardiac arrhythmia
0.48neurodegenerative disease
0.46hypertensive disorder
0.45heart disorder
0.44
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
T-box transcription factor TBX5
DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:26917986, PubMed:27035640, PubMed:29174768, PubMed:8988164). Binds to the core DNA motif of NPPA promoter (PubMed:26926761)