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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POU2F1
POU class 2 homeobox 1
Chromosome 1 · 1q24.2
NCBI Gene: 5451Ensembl: ENSG00000143190.24HGNC: HGNC:9212UniProt: A0A8A2IE78
250PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA-binding transcription factor activity, RNA polymerase II-specificnucleussequence-specific DNA bindingnegative regulation of DNA-templated transcriptionAbnormality of the skeletal systemneurodegenerative diseasegestational diabetesosteitis deformans
✦AI Summary

POU2F1 (POU class 2 homeobox 1) is a transcription factor that functions as a master regulator of metabolic reprogramming and epithelial-to-mesenchymal transition in multiple cancer types. As a DNA-binding transcription factor, POU2F1 directly binds promoter regions to activate target gene expression, including ALDOA in colon cancer and the miR-29 cluster in gastric cancer 1 2. Beyond cancer, POU2F1 participates in viral infection responses by forming multiprotein-DNA complexes with HSV VP16 and HCFC1 to enable viral immediate early gene transcription, and regulates pigmentation by modulating expression of genes including MC1R and MITF 3. In cancer pathogenesis, POU2F1 overexpression promotes proliferation, glycolytic metabolism, and the pentose phosphate pathway, while suppressing oxidative stress and apoptosis 1. POU2F1 drives hepatocellular carcinoma progression through AKT pathway-dependent activation of epithelial-to-mesenchymal transition genes (Twist1, Snai1, Snai2, ZEB1), correlating with poor prognosis 4. Notably, tRNA-derived fragment tRF-18-HSQS52D2 suppresses POU2F1 expression post-transcriptionally, reducing colorectal cancer malignancy 5. High POU2F1 expression associates with chemoresistance, advanced tumor stage, and metastasis across multiple cancer types, establishing it as a therapeutic target.

Sources cited
1
POU2F1 directly binds ALDOA promoter to enhance glycolysis and pentose phosphate pathway activity, promoting colon cancer proliferation and oxaliplatin resistance
PMID: 34997215
2
POU2F1 binds miR-29b1/a cluster promoter to suppress microRNA expression and increase PIK3R1/PIK3R3, promoting gastric cancer invasion via PI3K/Akt/mTOR pathway
PMID: 39183556
3
POU2F1 functions as a transcription factor regulating pigmentation genes including MC1R, MITF, SLC7A11, SLC24A5, and ASIP in Rex rabbit fur color formation
PMID: 32443864
4
POU2F1 overexpression promotes hepatocellular carcinoma proliferation, epithelial-to-mesenchymal transition, and migration by activating EMT genes; regulated by AKT pathway; correlates with poor prognosis
PMID: 28489585
5
tRNA-derived fragment tRF-18-HSQS52D2 suppresses colorectal cancer by destabilizing POU2F1 transcript; POU2F1 activates pathways controlling oxidative metabolism, glycolysis, and cell cycle
PMID: 40773675
6
Long non-coding RNA TUG1 sponges miR-9-5p to derepress POU2F1 expression, promoting osteosarcoma cell proliferation and tumorigenesis
PMID: 27658774
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.39Weak
neurodegenerative diseaseOpen Targets
0.28Weak
gestational diabetesOpen Targets
0.25Weak
osteitis deformansOpen Targets
0.24Weak
ProptosisOpen Targets
0.19Weak
adult onset asthmaOpen Targets
0.16Weak
Hepatitis, AlcoholicOpen Targets
0.13Weak
prostate carcinomaOpen Targets
0.12Weak
gastric cancerOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
Alzheimer diseaseOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
infectionOpen Targets
0.09Suggestive
cervical cancerOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
diffuse large B-cell lymphomaOpen Targets
0.07Suggestive
liver cancerOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POU2AF1Protein interaction100%SP1Protein interaction99%STAT3Protein interaction98%POU2F3Protein interaction98%SNAPC4Protein interaction97%MYCProtein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
86%
Ovary
57%
Lung
46%
Heart
34%
Liver
32%
Gene Interaction Network
Click a node to explore
POU2F1POU2AF1SP1STAT3POU2F3SNAPC4MYC
PROTEIN STRUCTURE
Preparing viewer…
PDB1E3O · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.26Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.16 [0.10–0.26]
RankingsWhere POU2F1 stands among ~20K protein-coding genes
  • #1,540of 20,598
    Most Researched250 · top 10%
  • #802of 17,882
    Most Constrained (LOEUF)0.26 · top 5%
Genes detectedPOU2F1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
The POU2F1-ALDOA axis promotes the proliferation and chemoresistance of colon cancer cells by enhancing glycolysis and the pentose phosphate pathway activity.
PMID: 34997215
Oncogene · 2022
1.00
2
Structure of POU2AF1 recombinant protein and it affects the progression and treatment of liver cancer based on WGCNA and molecular docking analysis.
PMID: 39128756
Int J Biol Macromol · 2024
0.90
3
Characterization of
PMID: 32443864
Genes (Basel) · 2020
0.80
4
Adherence is the critical factor for achieving molecular responses in patients with chronic myeloid leukemia who achieve complete cytogenetic responses on imatinib.
PMID: 20385986
J Clin Oncol · 2010
0.70
5
POU2F1 activity regulates HOXD10 and HOXD11 promoting a proliferative and invasive phenotype in head and neck cancer.
PMID: 25301728
Oncotarget · 2014
0.64