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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.
FOXP4
forkhead box P4
Chromosome 6 Β· 6p21.1
NCBI Gene: 116113Ensembl: ENSG00000137166.18HGNC: HGNC:20842UniProt: B7ZBM3
75PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusnucleoplasmcytosolprotein bindingNeurodevelopmental disorderneurodegenerative diseaseprostate carcinomaprostate cancer
✦AI Summary

FOXP4 (forkhead box P4) is a transcriptional repressor belonging to the FOX gene family that plays critical roles in cancer development and disease susceptibility 1. As a DNA-binding transcription factor, FOXP4 functions primarily as a transcriptional repressor with established roles in lung physiology and pathology 2. The protein demonstrates oncogenic properties across multiple cancer types, where it promotes cancer cell stemness and metastasis through downstream targets like SOX12 in gastric cancer 3. FOXP4 expression is regulated by the Hippo-YAP1 pathway and contributes to tumorigenesis by maintaining cancer stem cell characteristics 3. In colorectal cancer, FOXP4 facilitates radioresistance by transcriptionally activating GPX4 to regulate ferroptosis 4. The gene shows significant clinical relevance, with genetic variants like rs4714476 associated with prostate cancer susceptibility in Chinese populations 5. Additionally, an enhancer variant (rs10223516) modulates esophageal cancer risk through gene-alcohol interactions, particularly in chr6 alcohol consumers 6. FOXP4 has emerged as both a prognostic biomarker and potential therapeutic target, with small molecule inhibitors showing promise in suppressing tumor growth and enhancing chemotherapy efficacy 3. Recent genome-wide association studies have also identified FOXP4 associations with long COVID, independent of severe COVID-19 associations 2.

Sources cited
1
FOXP4 belongs to the FOX gene family consisting of at least 43 members
PMID: 15492844
2
FOXP4 is associated with long COVID and plays a role in lung physiology and pathology
PMID: 40399555
3
FOXP4 is a YAP1 target that promotes gastric cancer stemness and metastasis through SOX12
PMID: 39047223
4
FOXP4 facilitates radioresistance by transcriptionally modifying GPX4 to regulate ferroptosis in colorectal cancer
PMID: 40789053
5
FOXP4 variant rs4714476 is associated with prostate cancer susceptibility in Chinese men
PMID: 26642711
6
FOXP4 enhancer variant rs10223516 modulates esophageal cancer susceptibility through gene-alcohol interactions
PMID: 40228145
Disease Associationsβ“˜20
Neurodevelopmental disorderOpen Targets
0.59Moderate
neurodegenerative diseaseOpen Targets
0.52Moderate
prostate carcinomaOpen Targets
0.48Moderate
prostate cancerOpen Targets
0.41Moderate
ventricular septal defectOpen Targets
0.40Moderate
congenital diaphragmatic herniaOpen Targets
0.37Weak
COVID-19Open Targets
0.36Weak
lung adenocarcinomaOpen Targets
0.34Weak
sensorineural hearing lossOpen Targets
0.34Weak
Craniofacial asymmetryOpen Targets
0.34Weak
Disproportionate short statureOpen Targets
0.34Weak
Epiphyseal dysplasiaOpen Targets
0.34Weak
Flattened epiphysisOpen Targets
0.34Weak
Hearing impairmentOpen Targets
0.34Weak
Sensorineural hearing impairmentOpen Targets
0.34Weak
Short statureOpen Targets
0.34Weak
cancerOpen Targets
0.32Weak
non-small cell lung carcinomaOpen Targets
0.29Weak
lung carcinomaOpen Targets
0.29Weak
skin diseaseOpen Targets
0.28Weak
Pathogenic Variants3
NM_001012426.2(FOXP4):c.1540G>A (p.Ala514Thr)Pathogenic
not provided|8 conditions
β˜…β˜…β˜†β˜†2026β†’ Residue 514
NM_001012426.2(FOXP4):c.1615G>C (p.Asp539His)Likely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 539
NM_001012426.2(FOXP4):c.10G>T (p.Glu4Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 4
View on ClinVar β†—
Related Genes
FOXP2Protein interaction95%HAND1Protein interaction94%FOXP1Protein interaction87%FOXP3Protein interaction81%HAND2Protein interaction76%
Tissue Expression6 tissues
Brain
100%
Liver
55%
Lung
36%
Ovary
32%
Heart
22%
Bone Marrow
14%
Gene Interaction Network
Click a node to explore
FOXP4FOXP2HAND1FOXP1FOXP3HAND2
PROTEIN STRUCTURE
Preparing viewer…
PDB6XAT Β· 2.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.50Moderately Constrained
pLIβ“˜
0.98Intolerant
Observed/Expected LoF0.35 [0.26–0.50]
RankingsWhere FOXP4 stands among ~20K protein-coding genes
  • #6,328of 20,598
    Most Researched75
  • #4,026of 5,498
    Most Pathogenic Variants3
  • #2,952of 17,882
    Most Constrained (LOEUF)0.50 Β· top quartile
Genes detectedFOXP4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human FOX gene family (Review).
PMID: 15492844
Int J Oncol Β· 2004
1.00
2
Genome-wide association study of long COVID.
PMID: 40399555
Nat Genet Β· 2025
0.90
3
FOXP4 Is a Direct YAP1 Target That Promotes Gastric Cancer Stemness and Drives Metastasis.
PMID: 39047223
Cancer Res Β· 2024
0.80
4
FOXP4-AS1 May be a Potential Prognostic Biomarker in Human Cancers: A Meta-Analysis and Bioinformatics Analysis.
PMID: 35719909
Front Oncol Β· 2022
0.70
5
Prediction and assessment of deleterious and disease causing nonsynonymous single nucleotide polymorphisms (nsSNPs) in human
PMID: 38994097
Heliyon Β· 2024
0.60