POU3F4 Gene Summary [Human]
This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which induce striatal neuron-precursor differentiation. Mutations in this gene are associated with X chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq, Dec 2012]
Details
| Type | Protein Coding |
| Official Symbol | POU3F4 |
| Official Name | POU class 3 homeobox 4 [Source:HGNC Symbol;Acc:HGNC:9217] |
| Ensembl ID | ENSG00000196767 |
| Bio databases IDs | |
| Aliases | POU class 3 homeobox 4, brain-4, Octamer-binding transcription factor 9 |
| Synonyms | BRAIN-4, BRN-4, DFN3, DFNX2, OCT-9, OTF-9, POU class 3 homeobox 4, POU domain, class 3, transcription factor 4, RHS2, Slf |
| 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 POU3F4 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 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
- AT 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
- familial nonsyndromic hearing impairment
- X-linked deafness type 2
- choroideremia with deafness and obesity
- hearing loss
- autosomal recessive sensorineural hearing loss
- X-linked nonsyndromic hearing loss
- ear malformation
role in cell
- maturation
- differentiation
- production
- abnormal morphology
- fasciculation
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
- intracellular space
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POU3F4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- negative regulation of mesenchymal cell apoptotic process
- cochlea morphogenesis
- brain development
- 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
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity