MSX2 Gene Summary [Human]
This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MSX2 |
| Official Name | msh homeobox 2 [Source:HGNC Symbol;Acc:HGNC:7392] |
| Ensembl ID | ENSG00000120149 |
| Bio databases IDs | |
| Aliases | msh homeobox 2, craniosynostosis, type 2 |
| Synonyms | BB122635, CRS2, FPP, HOX8, Hox8.1, MSH, msh homeobox 2, PFM, PFM1 |
| 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 MSX2 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 factor activity, sequence-specific DNA binding
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- DNA binding domain
- nucleic acid binding
- double-stranded DNA binding
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- core suppressor domain
- homeodomain
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- microphthalmia
- chondrodysplasia
- parietal foramina 1
- neoplastic cell transformation
- androgenic alopecia
- parietal foramina cleidocranial dysplasia
- pancreatic carcinoma
- pancreatic epithelial cancer
- cleft palate
- cleft lip
role in cell
- expression in
- apoptosis
- growth
- proliferation
- quantity
- activation in
- binding in
- maturation
- differentiation
- adipogenesis
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
- Cytoplasm
- cytosol
- nucleoplasm
- nuclear speckles
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MSX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- embryonic nail plate morphogenesis
- cranial suture morphogenesis
- frontal suture morphogenesis
- cell surface receptor signaling pathway involved in heart development
- positive regulation of mesenchymal cell apoptotic process
- negative regulation of cell proliferation
- anterior/posterior pattern specification
- signal transduction involved in regulation of gene expression
- chondrocyte development
- epithelial to mesenchymal transition involved in endocardial cushion formation
- branching involved in mammary gland duct morphogenesis
- positive regulation of osteoblast differentiation
- bone trabecula formation
- mesenchymal cell apoptotic process
- negative regulation of transcription from RNA polymerase II promoter
- outflow tract septum morphogenesis
- cellular response to estradiol stimulus
- negative regulation of transcription, DNA-dependent
- stem cell differentiation
- enamel mineralization
- BMP signaling pathway
- osteoblast differentiation
- embryonic forelimb morphogenesis
- wound healing, spreading of epidermal cells
- embryonic hindlimb morphogenesis
- negative regulation of keratinocyte differentiation
- cardiac conduction system development
- negative regulation of fat cell differentiation
- osteoblast development
- regulation of transcription from RNA polymerase II promoter
- positive regulation of BMP signaling pathway
- positive regulation of catagen
- endochondral bone growth
- embryonic morphogenesis
- negative regulation of apoptotic process
- activation of meiosis
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- nuclear speck
- cytosol
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity