AlphaFold predicted structure
TBX15 · Q96SF7
Mean pLDDT
60.2/ 100
Low
602 residues
Confidence breakdown
- Very high(≥ 90)29%
- Confident(70–90)6%
- Low(50–70)8%
- Very low(< 50)58%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
TBX15
Chr 1p12T-box transcription factor 15
- MANE:
- ENST00000369429.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalClefting
BIALLELIC, autosomal or pseudoautosomalHydrocephalus
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalVACTERL-like phenotypes
Disease associations (Open Targets)
pelviscapular dysplasia
0.74Abnormality of the skeletal system
0.51androgenetic alopecia
0.47osteoarthritis, hip
0.43osteoarthritis, knee
0.42smoking behavior
0.40neurodegenerative disease
0.37obstructive sleep apnea syndrome
0.34facial morphology
0.31lobe attachment
0.31
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
T-box transcription factor TBX15
Probable transcriptional regulator involved in the development of the skeleton of the limb, vertebral column and head. Acts by controlling the number of mesenchymal precursor cells and chondrocytes (By similarity)
Diseases associated with TBX15
Curated MONDO disease pages that list TBX15 among their top associated genes.