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Symbol SOX6 contributors: shn/npt/pgu - updated : 01-09-2020
HGNC name SRY (sex determining region Y)-box 6
HGNC id 16421
corresponding disease(s) TOLCAS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features
tumoral     --low  
decreased in hepatocellular carcinoma, which correlated with poor prognosis
tumoral     --low  
in patients with Pancreatic cancer (PC) in association with metastatic disease
Variant & Polymorphism
Candidate gene
  • for craniosynostosis
  • for myopathy
  • Marker
  • may be a novel and potential prognostic marker for hepatocellular carcinoma
  • Therapy target
  • Mice homozygous for mutant allele p(100H), which interrupt the p gene and the Sox6 gene, show delayed growth, develop progressive atrioventricular heart block, significant ultrastructural changes in both cardiac, skeletal muscle cells and die within 2 wk after birth
  • Sox6 single null mice are born with mild skeletal abnormalities
  • Sox5-Sox6 double null fetuses die with a severe, generalized chondrodysplasia
  • Sox6-deficient mice are anemic due to impaired red cell maturation and show inappropriate globin gene expression in definitive erythrocytes