SOX4 Gene Summary [Human]
This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SOX4 |
| Official Name | SRY-box transcription factor 4 [Source:HGNC Symbol;Acc:HGNC:11200] |
| Ensembl ID | ENSG00000124766 |
| Bio databases IDs | |
| Aliases | SRY-box transcription factor 4 |
| Synonyms | CSS10, EVI16, Ire-abp, SRY-box transcription factor 4, SRY (sex determining region Y)-box 4 |
| 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 SOX4 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
- DNA binding domain
- nucleic acid binding
- high mobility group (HMG)-box domain superfamily
- central domain
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- serine-rich region
- double-stranded DNA binding
- HMG (high mobility group) box
- HMG-box domain
- high mobility group
- transcription factor activity
Pathways
Biological processes and signaling networks where the SOX4 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- cancer
- epithelial neoplasia
- epithelial cancer
- liver neoplasia
- hepatocellular carcinoma
- colorectal cancer
- rectum cancer
- acute myeloid leukemia
- hypoplasia
role in cell
- activation in
- expression in
- phosphorylation in
- apoptosis
- proliferation
- growth
- differentiation
- colony formation by
- migration
- synthesis in
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
- Mitochondria
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SOX4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mesenchyme development
- neuroepithelial cell differentiation
- positive regulation of translation
- negative regulation of cell proliferation
- positive regulation of cell proliferation
- nervous system development
- positive regulation of gamma-delta T cell differentiation
- positive regulation of myoblast differentiation
- positive regulation of transcription from RNA polymerase II promoter
- spinal cord development
- sympathetic nervous system development
- negative regulation of transcription from RNA polymerase II promoter
- heart development
- response to hypoxia
- positive regulation of transcription, DNA-dependent
- cellular response to glucose stimulus
- ascending aorta morphogenesis
- somatic stem cell maintenance
- negative regulation of protein ubiquitination
- positive regulation of insulin secretion
- endocrine pancreas development
- regulation of DNA damage response, signal transduction by p53 class mediator
- kidney morphogenesis
- neuron differentiation
- mitral valve morphogenesis
- positive regulation of canonical Wnt receptor signaling pathway
- regulation of transcription, DNA-dependent
- brain development
- glial cell development
- ventricular septum morphogenesis
- atrial septum primum morphogenesis
- T cell differentiation
- noradrenergic neuron differentiation
- cardiac right ventricle morphogenesis
- camera-type eye morphogenesis
- regulation of protein stability
- pro-B cell differentiation
- negative regulation of myoblast differentiation
- positive regulation of apoptotic process
- glucose homeostasis
- gene expression
- glial cell proliferation
- protein stabilization
- positive regulation of N-terminal peptidyl-lysine acetylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- cytoplasm
- mitochondrion
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- miRNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription 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
- sequence-specific DNA binding RNA polymerase II transcription factor activity