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Symbol SOX17 contributors: mct/shn - updated : 20-10-2020
HGNC name SRY (sex determining region y)-box 17
HGNC id 18122
corresponding disease(s) VUR3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
causing a severe defect in fetal hematopoiesis
tumoral       loss of function
epigenetically inactivated by promoter methylation in breast cancer
Variant & Polymorphism
Candidate gene
  • may be a valuable biomarker for the study of breast cancer carcinogenesis and progression
  • CNV of SOX17 is not only related to the patient's prognosis, but also related to gene methylation and expression levels affecting the patient's survival time in breast cancer
  • Therapy target
  • Sox17(+/-)-Sox18(-/-) double mutant pups died before postnatal day 21 due to reduced neovascularization in the liver sinusoids and kidney outer medulla vasa recta at P7, which most likely caused the ischemic necrosis in hepatocytes and renal tubular epithelia
  • Sox17 short-hairpin RNA suppresses cardiac myogenesis selectively, blocks cardiac myogenesis non-cell autonomously and impairs the induction of Hex transcription factor which is required for the production of endoderm-derived heart-inducing factors
  • Deletion of mouse Sox17 at E8.5 results in the loss of biliary structures and ectopic pancreatic tissue in the liver bud and common duct, while Sox17 overexpression suppresses pancreas development and promotes ectopic biliary-like tissue
  • Sox17-null mouse embryos display complete loss of the gallbladder/bile-duct structure
  • Sox17 knockdown increases the cyclin D1, Axin2, and activated &
  • 946;-catenin levels in rat cortical OPC