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FLASH GENE
Symbol SATB2 contributors: mct/npt/shn/pgu - updated : 06/02/2014
HGNC name SATB homeobox 2
HGNC id 21637
ASSOCIATED DISORDERS
corresponding disease(s) DEL2Q32 , OFC7
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   translocation    
t(2;7) or t(2;11) in isolated cleft palate
Susceptibility
Variant & Polymorphism
Candidate gene plausible candidate gene for Toriello-Carey syndrome
Marker
Therapy target
ANIMAL & CELL MODELS
  • loss of Satb2 results in amplification of craniofacial defects and leads both to increased apoptosis in the craniofacial mesenchyme where Satb2 is usually expressed and to changes in the pattern of expression of three genes implicated in the regulation of craniofacial development in humans and mice: Pax9, Alx4, and Msx1 (
  • Satb2-/- embryos have delayed bone formation or mineralization