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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POU2AF1
POU class 2 homeobox associating factor 1
Chromosome 11 · 11q23.1
NCBI Gene: 5450Ensembl: ENSG00000110777.12HGNC: HGNC:9211UniProt: Q16633
64PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IItranscription coactivator activityRNA polymerase II transcription regulator complexprotein bindingprimary biliary cirrhosisHodgkins lymphomadiffuse large B-cell lymphomalung carcinoma
✦AI Summary

POU2AF1 is a transcriptional coactivator that associates with POU2F1/OCT1 and POU2F2/OCT2 transcription factors to enhance their promoter activity by recognizing their POU domains 12. In B cells, POU2AF1 is essential for antigen response and germinal center formation 31. The protein functions as part of a regulatory complex with POU2F proteins across multiple cell types: in tuft cells, POU2AF1 paralogues (OCA-T1/POU2AF2 and OCA-T2/POU2AF3) associate with POU2F3 as master regulators of tuft cell identity and tuft-cell-like small cell lung cancer 4. In mesenchymal stem cells, POU2AF1 promotes adipogenesis by inhibiting HDAC1 expression 5. POU2AF1 is implicated in disease pathogenesis: it is upregulated in hepatocellular carcinoma and identified as a potential therapeutic target 6, functions as a hub gene in rheumatoid arthritis synovial tissue involved in IL-6/JAK/STAT3 signaling 7, and is downregulated in established RA patients 8. Additionally, POU2AF1 serves as a candidate biomarker for radiation exposure, showing linear dose-response relationships in human blood samples 9. B cell malignancies dependent on POU2AF1 demonstrate vulnerability to mSWI/SNF complex inhibition, providing a therapeutic avenue 10.

Sources cited
1
POU2AF1 associates with POU2F1/OCT1 and is essential for B-cell antigen response and germinal center formation
PMID: 7859290
2
POU2AF1 boosts POU2F1/OCT1 and POU2F2/OCT2 promoter activity by recognizing their POU domains
PMID: 7779176
3
POU2AF1 is required for germinal center formation
PMID: 7623806
4
POU2AF1 paralogues (OCA-T1/OCA-T2) bind POU2F3 and are master regulators of tuft cell identity and tuft-cell-like small cell lung cancer
PMID: 35576971
5
POU2AF1 promotes MSC adipogenesis by inhibiting HDAC1 expression
PMID: 33949290
6
POU2AF1 is considered a potential therapeutic target for hepatocellular carcinoma
PMID: 39128756
7
POU2AF1 is a hub gene in rheumatoid arthritis involved in IL-6/JAK/STAT3 signaling and inflammation
PMID: 40636121
8
POU2AF1 is downregulated in established RA patients and correlates with disease progression
PMID: 30681271
9
POU2AF1 shows linear dose-response relationships in radiation exposure as a candidate biomarker
PMID: 29373091
10
B cell malignancies dependent on POU2AF1 are sensitive to mSWI/SNF ATPase degraders, providing therapeutic vulnerability
PMID: 39029462
Disease Associationsⓘ20
primary biliary cirrhosisOpen Targets
0.46Moderate
Hodgkins lymphomaOpen Targets
0.40Moderate
diffuse large B-cell lymphomaOpen Targets
0.38Weak
lung carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
neoplasm of mature B-cellsOpen Targets
0.37Weak
nephrolithiasisOpen Targets
0.33Weak
Chronic Obstructive AsthmaOpen Targets
0.32Weak
multiple myelomaOpen Targets
0.29Weak
acute myeloid leukemiaOpen Targets
0.29Weak
lung adenocarcinomaOpen Targets
0.28Weak
gastric carcinomaOpen Targets
0.28Weak
chronic lymphocytic leukemiaOpen Targets
0.28Weak
hepatocellular carcinomaOpen Targets
0.28Weak
non-small cell lung carcinomaOpen Targets
0.28Weak
melanomaOpen Targets
0.28Weak
breast carcinomaOpen Targets
0.28Weak
colorectal adenocarcinomaOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MZB1Protein interaction100%SYKProtein interaction100%POU2F1Protein interaction100%BLKProtein interaction91%MS4A1Protein interaction91%CD79BProtein interaction91%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
54%
Liver
18%
Brain
12%
Ovary
12%
Heart
4%
Gene Interaction Network
Click a node to explore
POU2AF1MZB1SYKPOU2F1BLKMS4A1CD79B
PROTEIN STRUCTURE
Preparing viewer…
PDB1CQT · 3.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.73LoF Tolerant
pLIⓘ
0.11Tolerant
Observed/Expected LoF0.45 [0.29–0.73]
RankingsWhere POU2AF1 stands among ~20K protein-coding genes
  • #7,306of 20,598
    Most Researched64
  • #5,642of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedPOU2AF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Targeting the mSWI/SNF complex in POU2F-POU2AF transcription factor-driven malignancies.
PMID: 39029462
Cancer Cell · 2024
1.00
2
OCA-T1 and OCA-T2 are coactivators of POU2F3 in the tuft cell lineage.
PMID: 35576971
Nature · 2022
0.90
3
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
0.80
4
Identification and validation of CKAP2 as a novel biomarker in the development and progression of rheumatoid arthritis.
PMID: 40636121
Front Immunol · 2025
0.70
5
Research into the characteristic molecules significantly affecting liver cancer immunotherapy.
PMID: 36860864
Front Immunol · 2023
0.60