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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POU2F3
POU class 2 homeobox 3
Chromosome 11 · 11q23.3
NCBI Gene: 25833Ensembl: ENSG00000137709.10HGNC: HGNC:19864UniProt: Q9UKI9
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
keratinocyte differentiationsequence-specific double-stranded DNA bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingpositive regulation of transcription by RNA polymerase IIerythematosquamous dermatosispsoriasisneurodegenerative diseaseseborrheic keratosis
✦AI Summary

POU2F3 is a transcription factor that functions as a master regulator of cell-type-specific differentiation through binding to octamer DNA motifs 1. In normal physiology, POU2F3 drives tuft cell identity—rare chemosensory cells coordinating immune and neural responses in mucosal tissues—through formation of a complex with coactivator proteins OCA-T1 and OCA-T2 1. POU2F3 also regulates keratinocyte differentiation pathways. Clinically, POU2F3 is most significant as a defining marker of SCLC-P, a distinct small cell lung cancer subtype characterized by low/negative neuroendocrine marker expression 23. SCLC-P tumors represent approximately 7-13% of SCLC cases and exhibit unique biological properties, including fewer TP53 and RB1 mutations compared to other SCLC subtypes 4. The POU2F3-OCA-T complex constitutes a molecular vulnerability of tuft-cell-like small cell lung cancer 1. POU2F3 demonstrates 82.1% sensitivity and 99.4% specificity for diagnosing neuroendocrine-low SCLC, making it a highly accurate diagnostic marker 4. Understanding POU2F3-defined SCLC subtypes may enable subtype-matched therapeutic strategies, though clinical vulnerabilities specific to SCLC-P remain incompletely characterized.

Sources cited
1
POU2F3 forms a complex with OCA-T1/POU2AF2 and OCA-T2/POU2AF3 coactivators that is essential for tuft cell lineage development and tuft-cell-like SCLC
PMID: 35576971
2
POU2F3 defines one of four major SCLC subtypes (SCLC-P) with distinct therapeutic vulnerabilities
PMID: 33482121
3
SCLC includes POU2F3-defined subtypes with distinct immune microenvironment characteristics
PMID: 34653364
4
POU2F3 is a highly sensitive (82.1%) and specific (99.4%) diagnostic marker for neuroendocrine-low/negative SCLC, expressed in ~13% of SCLC cases
PMID: 37357936
5
POU2F3 is expressed in ~7% of SCLC cases and is mutually exclusive of ASCL1 and NEUROD1 expression
PMID: 33011388
Disease Associationsⓘ20
erythematosquamous dermatosisOpen Targets
0.44Moderate
psoriasisOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.40Moderate
seborrheic keratosisOpen Targets
0.39Weak
skin diseaseOpen Targets
0.32Weak
benign neoplasm of skinOpen Targets
0.28Weak
malnutritionOpen Targets
0.27Weak
pernicious anemiaOpen Targets
0.27Weak
small cell lung carcinomaOpen Targets
0.22Weak
vertebral column disorderOpen Targets
0.20Weak
skin cancerOpen Targets
0.20Weak
open-angle glaucomaOpen Targets
0.19Weak
secondary malignant neoplasmOpen Targets
0.18Weak
smoking initiationOpen Targets
0.17Weak
disorder of patellaOpen Targets
0.10Weak
neoplasmOpen Targets
0.08Suggestive
glaucomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
myocardial infarctionOpen Targets
0.05Suggestive
coronary artery diseaseOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POU2F1Protein interaction98%POU2F2Protein interaction98%DCAF11Protein interaction94%PLA1AProtein interaction92%LIPHProtein interaction91%LIPGProtein interaction84%
Tissue Expression6 tissues
Lung
100%
Brain
14%
Ovary
11%
Liver
10%
Bone Marrow
1%
Heart
0%
Gene Interaction Network
Click a node to explore
POU2F3POU2F1POU2F2DCAF11PLA1ALIPHLIPG
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UKI9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.37Tolerant
Observed/Expected LoF0.40 [0.29–0.58]
RankingsWhere POU2F3 stands among ~20K protein-coding genes
  • #10,223of 20,598
    Most Researched40
  • #3,835of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedPOU2F3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Patterns of transcription factor programs and immune pathway activation define four major subtypes of SCLC with distinct therapeutic vulnerabilities.
PMID: 33482121
Cancer Cell · 2021
1.00
2
Signatures of plasticity, metastasis, and immunosuppression in an atlas of human small cell lung cancer.
PMID: 34653364
Cancer Cell · 2021
0.90
3
Molecular subtypes of small cell lung cancer: a synthesis of human and mouse model data.
PMID: 30926931
Nat Rev Cancer · 2019
0.80
4
SCLC Subtypes Defined by ASCL1, NEUROD1, POU2F3, and YAP1: A Comprehensive Immunohistochemical and Histopathologic Characterization.
PMID: 33011388
J Thorac Oncol · 2020
0.70
5
Lung neuroendocrine neoplasms: recent progress and persistent challenges.
PMID: 34663914
Mod Pathol · 2022
0.60