SATB2 : SATB homeobox 2

Description

The SATB2 (SATB homeobox 2) is a protein-coding gene located on chromosome 2.

The SATB2 gene provides instructions for making a protein that helps control the development of certain body systems. This SATB2 protein binds to specific DNA regions called matrix attachment regions (MARs). These MARs influence chromatin structure, the complex of DNA and proteins that package DNA into chromosomes. Chromatin structure is a key regulator of gene expression during development. By organizing chromatin structure, SATB2 coordinates the activity of multiple genes involved in the development of certain body systems. In particular, SATB2 promotes the maturation of osteoblasts, cells that build bones, and directs the development of head and face structures. The protein also plays a role in the maturation and function of various types of neurons in the brain.

SATB2 binds to DNA at nuclear matrix- or scaffold-associated regions, likely recognizing the sugar-phosphate backbone of double-stranded DNA. This binding acts as a transcription factor, regulating gene expression in the nucleus by interacting with matrix attachment regions (MARs) and inducing local chromatin loop remodeling. SATB2 serves as a docking site for chromatin remodeling enzymes and recruits corepressors (HDACs) or coactivators (HATs) to promoters and enhancers. It is crucial for initiating the genetic program specific to upper-layer neurons (UL1) and deactivating genes specific to deep-layer neurons (DL) and UL2, potentially by modulating BCL11B expression. SATB2 represses Ctip2 and plays a regulatory role in corticocortical connections within the developing cerebral cortex. It may also be essential for palate formation. SATB2 acts as a central component of a transcriptional network that regulates skeletal development and osteoblast differentiation.

SATB2 is also known as C2DELq32q33, DEL2Q32Q33, GLSS.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing