POU3F2 Gene - POU Class 3 Homeobox 2
A transcription factor critical for neurodevelopment and implicated in melanoma and intellectual disability.
Gene Information Card
| Symbol | POU3F2 |
|---|---|
| Full Name | POU class 3 homeobox 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q16.1 |
| NCBI Gene ID | 5454 ncbi.nlm.nih.gov/gene/5454 |
| Ensembl ID | ENSG00000184486 |
| UniProt ID | P20265 |
| OMIM ID | 600494 |
| HGNC ID | 9216 |
| Aliases | BRN2, N-Oct3, OCT7, POUF3, BRN-2 |
Description
POU3F2 encodes a POU-domain transcription factor that plays a key role in neuronal differentiation, pituitary development, and melanocyte lineage specification. It is a master regulator in melanoma and is associated with neurodevelopmental disorders when mutated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | POU3F2 overexpression drives MITF-dependent and independent transcriptional programs promoting proliferation and invasion. | COSMIC; PMID: 20581866 |
| Intellectual disability, autosomal dominant 69 | Heterozygous missense mutations in POU3F2 impair DNA binding and transactivation, disrupting neurodevelopment. | ClinVar; PMID: 29706646 |
| Pituitary hormone deficiency | POU3F2 is required for proper development of the pituitary gland; loss-of-function variants cause combined pituitary hormone deficiency. | OMIM; PMID: 15186776 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Pituitary gland | 8.3 | Medium |
| Skin | 2.1 | Low |
| Testis | 1.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-28 (melanoma) | 45.2 | High expression; key oncogenic driver |
| SH-SY5Y (neuroblastoma) | 22.8 | Moderate expression; neuronal model |
| HEK293 (embryonic kidney) | 0.5 | Very low; used for recombinant studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.601C>T (p.Arg201Trp) | Missense | <0.01% | Loss of DNA-binding; dominant-negative effect in intellectual disability |
| c.1045G>A (p.Gly349Arg) | Missense | <0.01% | Impaired transactivation; associated with pituitary hormone deficiency |
| Amplification (6q16.1) | Copy number gain | ~10% in melanoma | Increased expression; promotes tumor progression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the POU homeodomain (e.g., p.Arg201Trp) reduce DNA-binding affinity and transcriptional activity, leading to haploinsufficiency in neurodevelopmental disorders.
Gain of Function (GOF)
Gene amplification and overexpression in melanoma act as a gain-of-function by sustaining proliferative signaling and blocking differentiation.
Dominant Negative (DN)
p.Arg201Trp and similar mutations can exert dominant-negative effects by forming non-functional dimers with wild-type POU3F2 or related POU factors.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Melanogenesis (KEGG hsa04916)
• Transcriptional misregulation in cancer (KEGG hsa05202)
• POU3F2-MITF regulatory network in melanoma
Protein Summary
POU3F2 (BRN2) is a 443-amino acid transcription factor containing a POU-specific domain and a POU homeodomain. It binds to octamer DNA sequences (ATGCAAAT) to regulate genes involved in neural crest development, melanocyte differentiation, and pituitary function. In melanoma, it acts as a lineage-addiction oncogene. Post-translational modifications include phosphorylation and sumoylation, which modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POU3F2 Knockout HEK293 Cell Line | EDJ-KQ3514 | Human | 5454 | Details Get a Quote |
| POU3F2 Knockout HeLa Cell Line | EDJ-KQ54180 | Human | 5454 | Details Get a Quote |
| POU3F2 Knockout A-549 Cell Line | EDJ-KQ62675 | Human | 5454 | Details Get a Quote |
| POU3F2 Knockout HCT 116 Cell Line | EDJ-KQ71143 | Human | 5454 | Details Get a Quote |
