POU3F3 Gene: POU Class 3 Homeobox 3
A transcription factor involved in neural development and associated with hearing loss and cancer.
Gene Information Card
| Symbol | POU3F3 |
|---|---|
| Full Name | POU class 3 homeobox 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q12.1 |
| NCBI Gene ID | 5454 ncbi.nlm.nih.gov/gene/5454 |
| Ensembl ID | ENSG00000198959 |
| UniProt ID | P20264 |
| OMIM ID | 602480 |
| HGNC ID | 9217 |
| Aliases | BRN1, OTF8 |
Description
POU3F3 (POU class 3 homeobox 3) encodes a transcription factor belonging to the POU domain family. It is essential for normal development of the central nervous system, particularly the neocortex and inner ear. The protein binds to octamer DNA sequences to regulate gene expression. Mutations in POU3F3 are associated with autosomal dominant nonsyndromic hearing loss (DFNA15) and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss (DFNA15) | Missense or frameshift mutations impair DNA binding or transactivation, leading to cochlear hair cell dysfunction. | ClinVar, OMIM #602480 |
| Glioma | Overexpression or amplification promotes tumor cell proliferation and invasion via transcriptional targets. | COSMIC, NCBI PubMed |
| Breast cancer | Altered expression correlates with poor prognosis; may regulate epithelial-mesenchymal transition. | COSMIC, NCBI PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Cerebellum | 8.3 | Medium |
| Testis | 4.1 | Low |
| Kidney | 2.0 | Low |
| Lung | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U87MG (glioblastoma) | 18.7 | Overexpressed |
| MCF7 (breast cancer) | 3.4 | Low expression |
| HEK293 (embryonic kidney) | 1.1 | Basal |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.619C>T (p.Arg207Trp) | Missense | <0.01% | Reduced DNA binding; hearing loss |
| c.640_641del (p.Leu214fs) | Frameshift | <0.01% | Loss of function; hearing loss |
| c.1000G>A (p.Glu334Lys) | Missense | 0.02% | Altered transactivation; cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Leu214fs) cause premature truncation, abolishing DNA-binding and transactivation, leading to hearing loss.
Gain of Function (GOF)
Amplification or overexpression in gliomas may enhance oncogenic transcriptional programs.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg207Trp) may interfere with wild-type POU3F3 function, contributing to dominant hearing loss.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neural crest differentiation
• Inner ear development
• Transcriptional misregulation in cancer
Protein Summary
POU3F3 is a 500-amino-acid transcription factor with a bipartite DNA-binding domain (POU-specific domain and POU homeodomain). It regulates genes involved in neurogenesis and sensory organ development. The protein is predominantly nuclear and forms homodimers or heterodimers with other POU factors. Post-translational modifications include phosphorylation, which modulates activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POU3F3 Knockout HEK293 Cell Line | EDJ-KQ2500 | Human | 5455 | Details Get a Quote |
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