SOX14 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. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SOX14 |
| Official Name | SRY-box transcription factor 14 [Source:HGNC Symbol;Acc:HGNC:11193] |
| Ensembl ID | ENSG00000168875 |
| Bio databases IDs | |
| Aliases | SRY-box transcription factor 14, HMG box transcription factor SOX-14 |
| Synonyms | SOX28, SRY-box transcription factor 14, SRY (sex determining region Y)-box 14 |
| 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 SOX14 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
- double-stranded DNA binding
- high mobility group (HMG)-box domain superfamily
- HMG (high mobility group) box
- HMG-box domain
- high mobility group
- chromatin binding
- protein binding
- sequence-specific DNA binding
Pathways
Biological processes and signaling networks where the SOX14 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.
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SOX14 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
- entrainment of circadian clock
- negative regulation of transcription, DNA-dependent
- neuron differentiation
- nervous system development
- brain development
- visual perception
- positive regulation of transcription from RNA polymerase II promoter
- regulation of neuron migration
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- 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 transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity