SIX6 Gene Summary [Human]
The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SIX6 |
| Official Name | SIX homeobox 6 [Source:HGNC Symbol;Acc:HGNC:10892] |
| Ensembl ID | ENSG00000184302 |
| Bio databases IDs | |
| Aliases | SIX homeobox 6 |
| Synonyms | MCOPCT2, ODRMD, OPTX2, sine oculis-related homeobox 6, Six9, SIX homeobox 6 |
| 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 SIX6 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
- Transcriptional regulator, SIX1, N-terminal SD domain
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- Six domain
- protein binding
- sequence-specific DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- glaucoma
- open-angle glaucoma
- optic disc anomalies with retinal and/or macular dystrophy
- refractive error
- myopia
- hypogonadism
- hypogonadotropic hypogonadism
role in cell
- proliferation
- quantity
- apoptosis
- transcription 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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SIX6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- eye development
- visual perception
- regulation of transcription from RNA polymerase II promoter
- organ morphogenesis
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
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity