DISEASES

Disease-gene associations mined from literature

Literature associating SATB2 and cleft palate

SATB2 [ENSP00000401112]

Special AT-rich sequence-binding protein 2; Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Required for the initiation of the upper- layer neurons (UL1) specific genetic program and for the inactivation of deep-layer neurons (DL) and UL2 specific genes, probably by modulating BCL11B expression. Repressor of Ctip2 and regulatory determinant of corticocortical connections in the developing cerebral cortex. May play an important role in palate formation. Acts as a molecular node in a transcriptional network regulating skeletal development and osteoblast differentiation; Belongs to the CUT homeobox family.

Synonyms:  SATB2,  SATB2p,  hSATB2,  A0A024R3U6,  C9JR56 ...

Linkouts:  STRING  Pharos  UniProt