HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
POU3F2
POU class 3 homeobox 2
Chromosome 6 Β· 6q16.1
NCBI Gene: 5454Ensembl: ENSG00000184486.10HGNC: HGNC:9215UniProt: P20265
69PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of cell population proliferationsequence-specific double-stranded DNA bindingnucleoplasmidentical protein bindingneurodegenerative diseaseintelligencemathematical abilityattention deficit hyperactivity disorder
✦AI Summary

POU3F2 (also known as BRN2) is a transcription factor that plays essential roles in neuronal differentiation and neurodevelopment. It functions by binding to specific DNA sequences consisting of 'GCAT' and 'TAAT' half-sites and acts as a transcriptional activator, particularly when cooperating with SOX proteins 1. POU3F2 is one of three key factors (along with ASCL1 and MYT1L) sufficient to directly reprogram fibroblasts into functional neurons, demonstrating its critical role in neuronal fate specification 1. In glioblastoma, POU3F2 is part of a core set of transcription factors essential for tumor-propagating cell maintenance and can reprogram differentiated cancer cells back to stem-like states 2. The gene regulates canonical Wnt signaling through transcriptional targets SOX13 and ADNP, which is crucial for neural progenitor cell proliferation and preventing premature radial glia specification 3. POU3F2 also directly activates NTF3 (neurotrophin-3) expression, which is required for neuronal differentiation and survival 4. Clinically, loss-of-function mutations in POU3F2 cause neurodevelopmental disorders characterized by developmental delay, autism spectrum disorder, and hyperphagic obesity with adolescent onset 53, highlighting its importance in human brain development and metabolic regulation.

Sources cited
1
POU3F2 is one of three transcription factors sufficient to reprogram fibroblasts into functional neurons
PMID: 20107439
2
POU3F2 is essential for glioblastoma tumor-propagating cells and can reprogram differentiated cancer cells
PMID: 24726434
3
POU3F2 regulates canonical Wnt signaling via SOX13 and ADNP targets and loss-of-function mutations cause autism spectrum disorder
PMID: 40498903
4
POU3F2 directly activates NTF3 expression, which is required for neuronal differentiation
PMID: 29549646
5
POU3F2 mutations cause neurodevelopmental delay and hyperphagic obesity with adolescent onset
PMID: 37207645
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.55Moderate
intelligenceOpen Targets
0.45Moderate
mathematical abilityOpen Targets
0.45Moderate
attention deficit hyperactivity disorderOpen Targets
0.38Weak
autism spectrum disorderOpen Targets
0.33Weak
Helicobacter pylori infectious diseaseOpen Targets
0.33Weak
joint diseaseOpen Targets
0.25Weak
erectile dysfunctionOpen Targets
0.24Weak
alcohol drinkingOpen Targets
0.21Weak
substance abuseOpen Targets
0.20Weak
smoking initiationOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
adolescent idiopathic scoliosisOpen Targets
0.19Weak
diabetic ketoacidosisOpen Targets
0.17Weak
hypopituitarismOpen Targets
0.17Weak
Cannabis useOpen Targets
0.17Weak
migraine disorderOpen Targets
0.17Weak
melanomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
Pathogenic Variants1
NM_005604.4(POU3F2):c.812A>T (p.Glu271Val)Likely pathogenic
POU3F2-associated disorder
β˜…β˜†β˜†β˜†2019β†’ Residue 271
View on ClinVar β†—
Related Genes
SOX10Protein interaction99%NEUROG2Protein interaction98%SOX1Protein interaction88%SIM1Protein interaction86%MYT1LProtein interaction84%SALL2Protein interaction81%
Tissue Expression6 tissues
Brain
100%
Ovary
0%
Bone Marrow
0%
Liver
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
POU3F2SOX10NEUROG2SOX1SIM1MYT1LSALL2
PROTEIN STRUCTURE
Preparing viewer…
PDB7XRC Β· 1.89 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.82LoF Tolerant
pLIβ“˜
0.04Tolerant
Observed/Expected LoF0.50 [0.31–0.82]
RankingsWhere POU3F2 stands among ~20K protein-coding genes
  • #6,832of 20,598
    Most Researched69
  • #5,005of 5,498
    Most Pathogenic Variants1
  • #6,969of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedPOU3F2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Direct conversion of fibroblasts to functional neurons by defined factors.
PMID: 20107439
Nature Β· 2010
1.00
2
Reconstructing and reprogramming the tumor-propagating potential of glioblastoma stem-like cells.
PMID: 24726434
Cell Β· 2014
0.90
3
Schizophrenia is defined by cell-specific neuropathology and multiple neurodevelopmental mechanisms in patient-derived cerebral organoids.
PMID: 34789849
Mol Psychiatry Β· 2022
0.80
4
Loss of CHD1 Promotes Heterogeneous Mechanisms of Resistance to AR-Targeted Therapy via Chromatin Dysregulation.
PMID: 32220301
Cancer Cell Β· 2020
0.70
5
POU3F2 regulates canonical Wnt signalling via SOX13 and ADNP to expand the neural progenitor population.
PMID: 40498903
Brain Β· 2025
0.60