POU4F2 Gene - POU Class 4 Homeobox 2
Key regulator of retinal ganglion cell development and auditory neuron differentiation
Gene Information Card
| Symbol | POU4F2 |
|---|---|
| Full Name | POU class 4 homeobox 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.22 |
| NCBI Gene ID | 5458 ncbi.nlm.nih.gov/gene/5458 |
| Ensembl ID | ENSG00000151615 |
| UniProt ID | Q12837 |
| OMIM ID | 602450 |
| HGNC ID | 9219 |
| Aliases | BRN3B, BRN3.2, POU4F2 |
Description
POU4F2 (POU class 4 homeobox 2) encodes a transcription factor belonging to the POU domain family. It is essential for the development and survival of retinal ganglion cells (RGCs) and plays a critical role in auditory neuron differentiation. The protein binds to DNA via its POU-specific and homeobox domains, regulating genes involved in neuronal fate specification and axon guidance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal ganglion cell degeneration | Loss of POU4F2 leads to impaired RGC development and survival, contributing to optic neuropathies | Animal models (knockout mice show RGC loss); Human studies (rare variants associated with optic atrophy) |
| Hearing loss | POU4F2 deficiency disrupts auditory neuron differentiation, affecting cochlear innervation | Mouse knockout models demonstrate auditory brainstem response deficits |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 0.0 | Not expressed in adult retina (developmental expression) |
| Brain | 0.0 | Not expressed in adult brain (developmental expression) |
| Cochlea | 0.0 | Not expressed in adult cochlea (developmental expression) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Retinal ganglion cells (developing) | N/A | High expression during embryonic development |
| Auditory neurons (developing) | N/A | High expression during embryonic development |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | missense | Rare | Alters DNA-binding domain, reduced transcriptional activity |
Mutation functional classification
Loss of Function (LOF)
Most reported variants are loss-of-function, impairing DNA binding or protein stability, leading to reduced RGC or auditory neuron survival.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retinal ganglion cell development
• Auditory neuron differentiation
Protein Summary
POU4F2 is a 411-amino acid transcription factor with a POU-specific domain and a homeobox domain. It localizes to the nucleus and regulates target genes involved in neuronal survival, axon outgrowth, and synaptic connectivity. The protein is transiently expressed during embryonic development in retinal ganglion cells and auditory neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POU4F2 Knockout HEK293 Cell Line | EDJ-KQ2611 | Human | 5458 | Details Get a Quote |
| POU4F2 Knockout HeLa Cell Line | EDJ-KQ54183 | Human | 5458 | Details Get a Quote |
| POU4F2 Knockout A-549 Cell Line | EDJ-KQ62677 | Human | 5458 | Details Get a Quote |
| POU4F2 Knockout HCT 116 Cell Line | EDJ-KQ71146 | Human | 5458 | Details Get a Quote |
