InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SATB2

Summary

InnateDB Protein

IDBP-388206.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SATB2

Protein Name

SATB homeobox 2

Synonyms

GLSS;

Species

Homo sapiens

Ensembl Protein

ENSP00000405420

InnateDB Gene

IDBG-78104 (SATB2)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:14701874}.

Subcellular Localization

Nucleus matrix {ECO:0000255PROSITE- ProRule:PRU00108, ECO:0000255PROSITE-ProRule:PRU00374, ECO:0000269PubMed:14701874}.

Disease Associations

Note=Chromosomal aberrations involving SATB2 are found in isolated cleft palate. Translocation t(2;7); translocation t(2;11).Cleft palate isolated (CPI) [MIM:119540]: A congenital fissure of the soft and/or hard palate, due to faulty fusion. Isolated cleft palate is not associated with cleft lips. Some patients may manifest other craniofacial dysmorphic features, mental retardation, and osteoporosis. {ECO:0000269PubMed:12915443, ECO:0000269PubMed:17377962}. Note=The disease may be caused by mutations affecting the gene represented in this entry.Note=A chromosomal aberration involving SATB2 is found in a patient with classical features of Toriello-Carey syndrome. Translocation t(2;14)(q33;q22).

Tissue Specificity

High expression in adult brain, moderate expression in fetal brain, and weak expression in adult liver, kidney, and spinal cord and in select brain regions, including amygdala, corpus callosum, caudate nucleus, and hippocampus. {ECO:0000269PubMed:14701874}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.