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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DEL2Q32 , OFC7

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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