AlphaFold predicted structure
SOX11 · P35716
Mean pLDDT
56.4/ 100
Low
441 residues
Confidence breakdown
- Very high(≥ 90)18%
- Confident(70–90)3%
- Low(50–70)25%
- Very low(< 50)54%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
SOX11
Chr 2p25.2SRY-box transcription factor 11
- MANE:
- ENST00000322002.5
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 imprintedHypogonadotropic hypogonadism (GMS)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMalformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPaediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedClefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSkeletal dysplasia
Disease associations (Open Targets)
intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
0.75Coffin-Siris syndrome
0.72neurodegenerative disease
0.56hypogonadotropic hypogonadism
0.52hereditary disease
0.52Abnormality of the skeletal system
0.51placental abruption
0.43Coffin-Siris syndrome 1
0.41neurodevelopmental disorder
0.38basal cell carcinoma
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Transcription factor SOX-11
Transcription factor that acts as a transcriptional activator (PubMed:24886874, PubMed:26543203). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (By similarity). Acts as a transcriptional activator of TEAD2 by binding to its gene promoter and first intron (By similarity). Plays a redundant role with SOX4 and SOX12 in cell survival of developing tissues such as the neural tube, branchial arches and somites, thereby contributing to organogenesis (By similarity)
Diseases associated with SOX11
Curated MONDO disease pages that list SOX11 among their top associated genes.