SOX17

Chr 8q11.23

SRY-box transcription factor 17

MANE:: ENST00000297316.5

OMIM: 610928 ↗NCBI: 64321 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SOX17 · Q9H6I2

v62025-08-01

Predicted Aligned Error matrix for SOX17 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.4/ 100

Low

414 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)2%
Low(50–70)27%
Very low(< 50)54%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary arterial hypertension
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CAKUT
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained kidney failure in young people
Unexplained young onset end-stage renal disease - additional genes
Unknown

Disease associations (Open Targets)

familial vesicoureteral reflux
0.64
vesicoureteral reflux 3
0.59
pulmonary arterial hypertension
0.49
heritable pulmonary arterial hypertension
0.47
endometrial cancer
0.39
vesicoureteral reflux
0.37
hereditary disease
0.34
brain aneurysm
0.32
pulmonary hypertension, primary, 7
0.30
digestive system disorder
0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription factor SOX-17

Acts as a transcription regulator that binds target promoter DNA (PubMed:33952808). Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal development of the definitive gut endoderm. Required for normal looping of the embryonic heart tube. Plays an important role in embryonic and postnatal vascular development, including development of arteries. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX18. Required for the generation and maintenance of fetal hematopoietic stem cells, and for fetal hematopoiesis. Probable transcriptional activator in the premeiotic germ cells