POU3F4 Gene - POU Class 3 Homeobox 4
Genetic insights into POU3F4-related hearing loss and developmental disorders
Gene Information Card
| Symbol | POU3F4 |
|---|---|
| Full Name | POU class 3 homeobox 4 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq21.1 |
| NCBI Gene ID | 5456 ncbi.nlm.nih.gov/gene/5456 |
| Ensembl ID | ENSG00000101981 |
| UniProt ID | P49335 |
| OMIM ID | 300039 |
| HGNC ID | 9217 |
| Aliases | BRN4, DFN3, OTF9, POU3F4 |
Description
POU3F4 encodes a POU domain-containing transcription factor critical for inner ear development, particularly the cochlea and vestibular system. Mutations in this gene cause X-linked non-syndromic hearing loss (DFN3) and are associated with inner ear malformations such as stapes fixation and perilymphatic gusher.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Deafness, X-linked 3 (DFN3) | Loss-of-function mutations impair transcription factor activity, disrupting cochlear and vestibular development | ClinVar, OMIM |
| Hearing loss with inner ear malformations | Missense or nonsense variants lead to structural defects including stapes fixation and enlarged vestibular aqueduct | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.0 | Not detected |
| Inner ear (cochlea) | High (qualitative) | Key site of expression |
| Testis | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | No endogenous expression |
| SH-SY5Y | 0.0 | No endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.899G>A (p.Arg300Gln) | Missense | Rare | Loss of DNA-binding activity |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein |
| c.679C>T (p.Arg227*) | Nonsense | Rare | Truncated, non-functional protein |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to haploinsufficiency or complete loss of transcription factor activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mechanisms described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Inner ear development (Reactome: R-HSA-5619507)
• Transcriptional regulation by POU domain factors
Protein Summary
POU3F4 is a 361-amino acid transcription factor containing a POU-specific domain and a POU homeodomain. It binds DNA as a monomer and regulates genes involved in otic vesicle patterning and cochlear duct formation. The protein is predominantly expressed in the developing inner ear and is essential for normal hearing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POU3F4 Knockout HEK293 Cell Line | EDJ-KQ5511 | Human | 5456 | Details Get a Quote |
| POU3F4 Knockout HeLa Cell Line | EDJ-KQ54181 | Human | 5456 | Details Get a Quote |
| POU3F4 Knockout A-549 Cell Line | EDJ-KQ62676 | Human | 5456 | Details Get a Quote |
| POU3F4 Knockout HCT 116 Cell Line | EDJ-KQ71144 | Human | 5456 | Details Get a Quote |
