POU4F3 Gene Summary [Human]
This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009]
Details
| Type | Protein Coding |
| Official Symbol | POU4F3 |
| Official Name | POU class 4 homeobox 3 [Source:HGNC Symbol;Acc:HGNC:9220] |
| Ensembl ID | ENSG00000091010 |
| Bio databases IDs | |
| Aliases | POU class 4 homeobox 3 |
| Synonyms | Brn3.1, BRN3C, ddl, DFNA15, DFNA42, DFNA52, dreidel, OCT-T3, POU class 4 homeobox 3, POU domain, class 4, transcription factor 3 |
| 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 POU4F3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Pou domain - N-terminal to homeobox domain
- 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
- protein binding
- sequence-specific DNA binding
- homeodomain
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hyperactive behavior
- hearing loss
- autosomal dominant deafness type 15
- familial nonsyndromic hearing impairment
- germ cell neoplasia
- autosomal recessive deafness
- autosomal recessive sensorineural hearing loss
- yolk sac neoplasm
role in cell
- migration
- apoptosis
- differentiation
- formation
- quantity
- degeneration
- outgrowth
- lack
- extension
- development
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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POU4F3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- retinal ganglion cell axon guidance
- auditory receptor cell differentiation
- axon extension
- inner ear morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- visual perception
- vestibulocochlear nerve development
- neuromuscular process controlling balance
- neuron apoptotic process
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- 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
- sequence-specific DNA binding RNA polymerase II transcription factor activity