AlphaFold predicted structure
SOX2 · P48431
Mean pLDDT
59.8/ 100
Low
317 residues
Confidence breakdown
- Very high(≥ 90)23%
- Confident(70–90)4%
- Low(50–70)24%
- Very low(< 50)48%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
SOX2
Chr 3q26.33SRY-box transcription factor 2
- MANE:
- ENST00000325404.3
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Anophthalmia or microphthalmia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHypogonadotropic hypogonadism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIUGR and IGF abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOcular coloboma
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPituitary hormone deficiency
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
+10 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
anophthalmia/microphthalmia-esophageal atresia syndrome
0.82Anophthalmia/microphthalmia - esophageal atresia
0.77neurodegenerative disease
0.55Jackson-Weiss syndrome
0.52risk-taking behaviour
0.50hereditary disease
0.49microphthalmia
0.47Septo-optic dysplasia
0.46Anophthalmia
0.43attention deficit-hyperactivity disorder
0.42
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Transcription factor SOX-2
Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Binds to the proximal enhancer region of NANOG (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency (PubMed:18035408). Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity). May function as a switch in neuronal development (By similarity)
Diseases associated with SOX2
Curated MONDO disease pages that list SOX2 among their top associated genes.