POU4F3 Gene
POU Class 4 Homeobox 3: A key transcription factor in inner ear hair cell development and hearing
Gene Information Card
| Symbol | POU4F3 |
|---|---|
| Full Name | POU class 4 homeobox 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q32 |
| NCBI Gene ID | 5459 ncbi.nlm.nih.gov/gene/5459 |
| Ensembl ID | ENSG00000196757 |
| UniProt ID | Q15319 |
| OMIM ID | 602460 |
| HGNC ID | 9217 |
| Aliases | DFNA15, BRN3C, BRN-3C |
Description
POU4F3 (POU class 4 homeobox 3) encodes a transcription factor belonging to the POU domain family. It is essential for the development and survival of inner ear hair cells. Mutations in this gene cause autosomal dominant non-syndromic hearing loss (DFNA15). The protein binds to DNA via its POU-specific and POU homeodomains, regulating genes critical for hair cell differentiation and maintenance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant non-syndromic hearing loss 15 (DFNA15) | Loss-of-function or dominant-negative mutations in POU4F3 disrupt hair cell gene expression, leading to progressive sensorineural hearing loss | ClinVar, OMIM |
| Non-syndromic hearing loss (recessive) | Rare biallelic loss-of-function variants cause early-onset severe hearing loss | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | Not available (nTPM) | High (RNA-seq) |
| Inner ear hair cells | Not available | High (protein) |
| Brain (cerebellum) | 0.2 | Low |
| Testis | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | No endogenous expression |
| K562 | 0.0 | No endogenous expression |
| Hair cell-like cell lines (e.g., UB/OC-1) | Not available | Endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.991_992delAG (p.Arg331Glufs*19) | Frameshift | Rare | Loss of function; truncation of homeodomain |
| c.601C>T (p.Arg201*) | Nonsense | Rare | Premature stop; loss of function |
| c.1048G>A (p.Gly350Ser) | Missense | Rare | Altered DNA binding; dominant-negative effect |
| c.1082G>A (p.Arg361His) | Missense | Rare | Reduced transactivation; hearing loss |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Arg331Glufs*19, p.Arg201*) lead to truncated protein lacking functional domains, causing haploinsufficiency or recessive loss.
Gain of Function (GOF)
No clear gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the homeodomain (e.g., p.Gly350Ser) produce a protein that interferes with wild-type POU4F3 function, causing dominant hearing loss.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hair cell differentiation and survival
• POU domain transcription factor signaling
Protein Summary
POU4F3 is a 338-amino acid transcription factor with a POU-specific domain and a POU homeodomain. It localizes to the nucleus and activates genes required for hair cell development, including Gfi1 and other targets. The protein is highly conserved across vertebrates and is critical for maintaining auditory function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POU4F3 Knockout HEK293 Cell Line | EDJ-KQ50528 | Human | 5459 | Details Get a Quote |
| POU4F3 Knockout HeLa Cell Line | EDJ-KQ54184 | Human | 5459 | Details Get a Quote |
| POU4F3 Knockout A-549 Cell Line | EDJ-KQ62678 | Human | 5459 | Details Get a Quote |
| POU4F3 Knockout HCT 116 Cell Line | EDJ-KQ71147 | Human | 5459 | Details Get a Quote |
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