VAX2 Gene Summary [Human]
This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]
Details
| Type | Protein Coding |
| Official Symbol | VAX2 |
| Official Name | ventral anterior homeobox 2 [Source:HGNC Symbol;Acc:HGNC:12661] |
| Ensembl ID | ENSG00000116035 |
| Bio databases IDs | |
| Aliases | ventral anterior homeobox 2 |
| Synonyms | DRES93, ventral anterior 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 VAX2 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
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- nucleic acid binding
- double-stranded DNA binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- homeodomain
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gastric cancer
- tremor
- lung adenocarcinoma
- lung adenocarcinoma formation
- diabetic nephropathy
- metastasis
- astigmatism
- coloboma
- cleft palate
- microphthalmia
role in cell
- expression in
- migration
- invasion by
- guidance
- abnormal morphology
- development
- transactivation in
- projection
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 VAX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuron differentiation
- retina development in camera-type eye
- dorsal/ventral axis specification
- brain development
- ectoderm development
- visual perception
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- forebrain development
- central nervous system development
- embryonic eye morphogenesis
- axonogenesis
- Wnt receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromatin
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II intronic transcription regulatory region sequence-specific DNA 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 negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity