EMX2 Gene Summary [Human]
This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | EMX2 |
| Official Name | empty spiracles homeobox 2 [Source:HGNC Symbol;Acc:HGNC:3341] |
| Ensembl ID | ENSG00000170370 |
| Bio databases IDs | |
| Aliases | empty spiracles homeobox 2 |
| Synonyms | empty spiracles homeobox 2, Emx2 (predicted), Pdo, RGD1564797 |
| 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 EMX2 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
- 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
- neoplasia
- hypoplasia
- Huntington disease
- vesicoureteral reflux
- schizencephaly
- congenital malformation
- Hutchinson-Gilford progeria syndrome
- metastatic colorectal cancer
- head and neck neoplasia
- endometriosis
role in cell
- proliferation
- differentiation
- migration
- number
- abnormal morphology
- cell division
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
- axons
- axon terminals
- synaptic vesicle fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EMX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation in forebrain
- neuron differentiation
- forebrain cell migration
- anterior/posterior pattern specification
- brain development
- response to xenobiotic stimulus
- dentate gyrus development
- cerebral cortex regionalization
- regulation of transcription from RNA polymerase II promoter
- ureter morphogenesis
- neuron migration
- central nervous system development
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- axon
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity