OTX2 Gene Summary [Human]
This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. [provided by RefSeq, Jul 2012]
Details
| Type | Protein Coding |
| Official Symbol | OTX2 |
| Official Name | orthodenticle homeobox 2 [Source:HGNC Symbol;Acc:HGNC:8522] |
| Ensembl ID | ENSG00000165588 |
| Bio databases IDs | |
| Aliases | orthodenticle homeobox 2 |
| Synonyms | CPHD6, E130306E05Rik, LOC100911492, MCOPS5, orthodenticle 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 OTX2 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
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- DNA binding domain
- nucleic acid binding
- double-stranded DNA binding
- Otx1 transcription factor
- protein binding
- sequence-specific DNA binding
- homeodomain
- transcription factor activity
- eukaryotic initiation factor 4E binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- aphakia
- early-onset retinal dystrophy without pituitary dysfunction
- neuronal migration disorder
- acephaly
- hyperplasia
- syndromic anophthalmia and microphthalmia
- 46 XY partial gonadal dysgenesis
- combined pituitary hormone deficiency type 6
- hypoplasia
role in cell
- apoptosis
- differentiation
- activation in
- expression in
- quantity
- growth
- transcription in
- proliferation
- binding in
- cytotoxicity
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
- vesicles
- nucleoplasm
- growth cone
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human OTX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of fibroblast growth factor receptor signaling pathway
- macromolecular complex assembly
- axon guidance
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of embryonic development
- regulation of transcription from RNA polymerase II promoter
- regulation of smoothened signaling pathway
- midbrain development
- forebrain development
- dopaminergic neuron differentiation
- positive regulation of transcription, DNA-dependent
- positive regulation of gastrulation
- primitive streak formation
Cellular Component
Where in the cell the gene product is active
- growth cone
- nucleus
- macromolecular complex
- chromatin
Molecular Function
What the gene product does at the molecular level
- 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
- eukaryotic initiation factor 4E binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity