RAX Gene Summary [Human]
This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | RAX |
| Official Name | retina and anterior neural fold homeobox [Source:HGNC Symbol;Acc:HGNC:18662] |
| Ensembl ID | ENSG00000134438 |
| Bio databases IDs | |
| Aliases | retina and anterior neural fold homeobox |
| Synonyms | 7530406A22Rik, E130303K03Rik, ey-1, MCOP3, MCOPS16, RAX1, retina and anterior neural fold homeobox, RX |
| 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 RAX 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 regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- dsRNA-binding domain
- 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
- non-insulin-dependent diabetes mellitus
- isolated microphthalmia type 3
- anophthalmia
- cleft palate
- breast adenocarcinoma
- sporadic parathyroid adenoma
- parathyroid adenoma
- gliosis
regulated by
- valproic acid
- LHX2
role in cell
- expression in
- apoptosis
- transactivation 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 RAX gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- limb development
- camera-type eye development
- pattern specification process
- hypothalamus development
- positive 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
- 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