SIX2 Gene Summary [Human]
This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq, Dec 2008]
Details
| Type | Protein Coding |
| Official Symbol | SIX2 |
| Official Name | SIX homeobox 2 [Source:HGNC Symbol;Acc:HGNC:10888] |
| Ensembl ID | ENSG00000170577 |
| Bio databases IDs | |
| Aliases | SIX homeobox 2 |
| Synonyms | sine oculis-related homeobox 2, SIX homeobox 2 |
| 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 SIX2 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
- transcription factor binding
- Six domain
- protein binding
- sequence-specific DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- Transcriptional regulator, SIX1, N-terminal SD domain
- binding protein
- double-stranded DNA binding
- homeodomain
- transcription factor activity
Pathways
Biological processes and signaling networks where the SIX2 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
- hypoplasia
- non-insulin-dependent diabetes mellitus
- breast cancer
- Wilms tumor
- Wilms tumorigenesis
- oral squamous cell carcinoma
- squamous cell cancer of the oral cavity
- rhabdomyosarcoma
- soft tissue sarcoma cancer
- developmental delay
role in cell
- expression in
- proliferation
- cell death
- differentiation
- ossification by
- cell survival
- specification
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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SIX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- regulation of chondrocyte differentiation
- chondrocyte differentiation
- middle ear morphogenesis
- embryonic digestive tract morphogenesis
- anatomical structure morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- anterior/posterior axis specification
- mesenchymal stem cell proliferation
- kidney development
- nephron morphogenesis
- nephron development
- cell migration
- regulation of branching involved in ureteric bud morphogenesis
- embryonic cranial skeleton morphogenesis
- mesenchymal cell differentiation involved in kidney development
- mesodermal cell fate specification
- regulation of transcription from RNA polymerase II promoter
- mesenchymal to epithelial transition involved in metanephros morphogenesis
- negative regulation of epithelial cell differentiation
- protein import into nucleus
- mesenchymal stem cell maintenance involved in nephron morphogenesis
- condensed mesenchymal cell proliferation
- regulation of ossification
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- 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 RNA polymerase II transcription factor activity