SATB2 Gene Summary [Human]
This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]
Details
| Type | Protein Coding |
| Official Symbol | SATB2 |
| Official Name | SATB homeobox 2 [Source:HGNC Symbol;Acc:HGNC:21637] |
| Ensembl ID | ENSG00000119042 |
| Bio databases IDs | |
| Aliases | SATB homeobox 2 |
| Synonyms | BAP002, C2DELq32q33, DEL2Q32Q33, GLSS, LOC212712, mKIAA1034, RGD1562369, SATB homeobox 2, special AT-rich sequence binding protein 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SATB2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- Sumoylation motif
- CUT1-like DNA-binding domain of SATB
- nucleic acid binding
- N-terminal domain of SATB1 and similar proteins
- chromatin binding
- histone deacetylase binding
- protein binding
- sequence-specific DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- CUT domain
- double-stranded DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- epithelial cancer
- colorectal carcinomagenesis
- colorectal cancer
- colorectal neoplasia
- gastrointestinal tract cancer
- gastrointestinal neoplasia
- chromosome 2q32-q33 deletion syndrome
- SATB2 associated disorder
- pervasive developmental disorder
role in cell
- proliferation
- expression in
- phosphorylation in
- apoptosis
- activation in
- migration
- formation
- formation in
- binding in
- senescence
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nuclear rim
- nuclear speckles
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SATB2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- chromatin remodeling
- neuron migration
- embryonic pattern specification
- palate development
- osteoblast development
- positive regulation of transcription from RNA polymerase II promoter
- embryonic skeletal system morphogenesis
- cartilage development
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- histone deacetylase complex
- nuclear matrix
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- histone deacetylase binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity