VSX2 Gene Summary [Human]
This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | VSX2 |
| Official Name | visual system homeobox 2 [Source:HGNC Symbol;Acc:HGNC:1975] |
| Ensembl ID | ENSG00000119614 |
| Bio databases IDs | |
| Aliases | visual system homeobox 2 |
| Synonyms | CHX10, HOX10, MCOP2, MCOPCB3, or, RET1, visual system 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 VSX2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- OAR motif
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- nucleic acid binding
- double-stranded DNA binding
- 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
- inflammatory bowel disease
- isolated microphthalmia type 2
- isolated microphthalmia with coloboma type 3
- microphthalmia, cataracts, and iris abnormalities
- microphthalmia
- VSX2-related microphthalmia
- syndromic anophthalmia and microphthalmia
- human papilloma virus infection
- retinitis pigmentosa
role in cell
- proliferation
- morphology
- quantity
- formation
- differentiation
- commitment
- transdifferentiation
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
- nuclear fraction
- Cytoplasm
- intracellular space
- chromatin
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human VSX2 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
- visual perception
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity