SATB2: Special AT-Rich Sequence-Binding Protein 2
A key transcription factor in craniofacial development and neurodevelopment, associated with SATB2-associated syndrome and various cancers.
Gene Information Card
| Symbol | SATB2 |
|---|---|
| Full Name | SATB homeobox 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 23314 ncbi.nlm.nih.gov/gene/23314 |
| Ensembl ID | ENSG00000116032 |
| UniProt ID | Q9UPW6 |
| OMIM ID | 608148 |
| HGNC ID | 10537 |
| Aliases | SATB2, SATB homeobox 2, GLSS, KIAA1034, SATB family member 2 |
Description
The SATB2 gene encodes a nuclear matrix-associated transcription factor that binds to nuclear matrix attachment regions (MARs) and regulates chromatin remodeling and gene expression. It plays a critical role in craniofacial development, osteoblast differentiation, and neuronal migration. Mutations in SATB2 cause SATB2-associated syndrome (SAS), characterized by intellectual disability, speech delay, and craniofacial anomalies. SATB2 is also implicated in colorectal cancer and other malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| SATB2-associated syndrome (SAS) | Loss-of-function mutations in SATB2 disrupt transcriptional regulation of genes involved in craniofacial and neuronal development. | ClinVar, OMIM #608148 |
| Colorectal cancer | SATB2 overexpression or amplification promotes tumor progression and metastasis via chromatin remodeling and activation of oncogenic pathways. | COSMIC, NCBI Gene |
| Osteoporosis | Reduced SATB2 expression impairs osteoblast differentiation and bone formation. | UniProt, OMIM |
| Intellectual disability | De novo mutations in SATB2 cause neurodevelopmental delay and speech impairment. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Colon | 8.3 | Medium |
| Bone marrow | 6.1 | Low |
| Kidney | 4.2 | Low |
| Liver | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HCT116 (colorectal carcinoma) | 22.7 | High expression |
| MCF7 (breast cancer) | 3.1 | Low expression |
| HEK293 (embryonic kidney) | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.715C>T (p.Arg239*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.649_650delAG (p.Ser217fs) | Frameshift | Rare | Loss of function; premature stop codon |
| c.823G>A (p.Glu275Lys) | Missense | Rare | Loss of function; impaired DNA binding |
| SATB2 amplification | Copy number gain | Common in colorectal cancer | Gain of function; increased oncogenic activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that reduce or abolish SATB2 transcriptional activity, leading to SATB2-associated syndrome.
Gain of Function (GOF)
Amplification or overexpression of SATB2 in colorectal cancer, promoting tumor growth and metastasis.
Dominant Negative (DN)
Not well characterized; some missense mutations may interfere with wild-type SATB2 function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin organization (REACT:1727)
• Transcriptional regulation by SATB2 (PMID: 21572437)
• Osteoblast differentiation (WP:WP322)
• Wnt signaling pathway (WP:WP428)
Protein Summary
SATB2 is a 733-amino acid nuclear protein that contains a homeobox domain and a CUT domain. It binds to nuclear matrix attachment regions (MARs) and recruits chromatin remodeling complexes to regulate gene expression. The protein is essential for craniofacial development, osteoblast differentiation, and neuronal migration. Post-translational modifications include phosphorylation and acetylation, which modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SATB2 Knockout HEK293 Cell Line | EDJ-KQ7966 | Human | 23314 | Details Get a Quote |
| SATB2 Knockout A-549 Cell Line | EDJ-KQ33659 | Human | 23314 | Details Get a Quote |
| SATB2 Knockout HCT 116 Cell Line | EDJ-KQ33660 | Human | 23314 | Details Get a Quote |
| SATB2 Knockout HeLa Cell Line | EDJ-KQ33661 | Human | 23314 | Details Get a Quote |
