SIX3 Gene Summary [Human]
This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | SIX3 |
| Official Name | SIX homeobox 3 [Source:HGNC Symbol;Acc:HGNC:10889] |
| Ensembl ID | ENSG00000138083 |
| Bio databases IDs | |
| Aliases | SIX homeobox 3 |
| Synonyms | E130112M24RIK, HPE2, sine oculis-related homeobox 3, Six3a, Six3alpha, Six3b, Six3beta, SIX homeobox 3 |
| 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 SIX3 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
- nucleic acid binding
- Groucho binding domain
- transcription factor binding
- Six domain
- histone deacetylase binding
- protein binding
- receptor binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- Transcriptional regulator, SIX1, N-terminal SD domain
- double-stranded DNA binding
- homeodomain
Pathways
Biological processes and signaling networks where the SIX3 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
- neuroblastoma
- holoprosencephaly-2
- systemic lupus erythematosus
- schizencephaly
- single upper central incisor
- soft tissue sarcoma cancer
- MYCN amplification negative neuroblastoma
- neuroblastoma formation
- synovial sarcoma
- MYCN amplification positive aggressive neuroblastoma
role in cell
- proliferation
- apoptosis
- migration
- growth
- quantity
- morphology
- differentiation
- generation
- maturation
- neural cell differentiation
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SIX3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of neural retina development
- telencephalon development
- epithelial cell maturation
- telencephalon regionalization
- cell proliferation in forebrain
- negative regulation of neuron differentiation
- forebrain dorsal/ventral pattern formation
- brain development
- lens development in camera-type eye
- positive regulation of transcription from RNA polymerase II promoter
- visual perception
- regulation of cell proliferation
- pituitary gland development
- regulation of transcription from RNA polymerase II promoter
- eye development
- proximal/distal axis specification
- optic vesicle morphogenesis
- negative regulation of transcription, DNA-dependent
- regulation of neural precursor cell proliferation
- lens fiber cell differentiation
- neuroblast differentiation
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
- transcription corepressor binding
- 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
- receptor binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity