AlphaFold predicted structure
SOX5 · P35711
Mean pLDDT
57.6/ 100
Low
763 residues
Confidence breakdown
- Very high(≥ 90)19%
- Confident(70–90)14%
- Low(50–70)9%
- Very low(< 50)58%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
SOX5
Chr 12p12.1SRY-box transcription factor 5
- Aliases:
- L-SOX5, MGC35153
- MANE:
- ENST00000451604.7
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownClefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
Lamb-Shaffer syndrome
0.71hereditary disease
0.53developmental and speech delay due to SOX5 deficiency
0.51osteoarthritis, knee
0.50Abnormality of the skeletal system
0.48osteoarthritis, hip
0.48major depressive disorder
0.47Back pain
0.47hair color
0.46osteoarthritis
0.45
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Transcription factor SOX-5
Transcription factor involved in chondrocytes differentiation and cartilage formation. Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes, such as COL2A1 and AGC1. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9's ability to transactivate. Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes. Together with SOX6, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts. Binds to the proximal promoter region of the myelin protein MPZ gene
Diseases associated with SOX5
Curated MONDO disease pages that list SOX5 among their top associated genes.