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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FOXJ3
forkhead box J3
Chromosome 1 · 1p34.2
NCBI Gene: 22887Ensembl: ENSG00000198815.10HGNC: HGNC:29178UniProt: Q9UPW0
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IIDNA-binding transcription activator activity, RNA polymerase II-specificprotein bindingsequence-specific DNA bindingesophageal diseaseAbruptio Placentaeneoplasmcolorectal carcinoma
✦AI Summary

FOXJ3 (forkhead box J3) is a transcriptional activator belonging to the forkhead box gene family that plays diverse roles in development and disease 1. During embryonic development, FOXJ3 is expressed in neuroectoderm, neural crest cells, and developing musculature, suggesting roles in neuronal and muscle development 2. In the brain, FOXJ3 regulates neuronal specification and cortical lamination by controlling PTEN expression, with pathogenic variants linked to focal cortical dysplasia and epilepsy 3. The protein exhibits context-dependent tumor-related functions: it acts as a tumor suppressor in colorectal cancer, where FOXJ3 expression is upregulated by ITGA5 circRNA through miR-107 sponging 4, but promotes oncogenic behavior in breast cancer by regulating Snail expression 5 and in tongue squamous cell carcinoma where it collaborates with THRA to promote cancer progression 6. FOXJ3 also supports glioma stem cell survival, as it is targeted by SOX2-regulated miR-425-5p 7. Additionally, FOXJ3 facilitates osteoclastogenesis in rheumatoid arthritis by promoting RGS1 transcription through enhancer RNA recruitment 8. These findings establish FOXJ3 as a versatile transcription factor with tissue-specific roles in development, neurological disorders, and cancer.

Sources cited
1
FOXJ3 belongs to the forkhead box gene family of transcription factors
PMID: 15492844
2
FOXJ3 is expressed in neuroectoderm, neural crest cells, and developing musculature during embryonic development
PMID: 15366017
3
FOXJ3 regulates neuronal specification and cortical lamination by controlling PTEN expression, with pathogenic variants linked to epilepsy and focal cortical dysplasia
PMID: 41803108
4
FOXJ3 acts as a tumor suppressor in colorectal cancer and is upregulated by ITGA5 circRNA through miR-107 sponging
PMID: 32305992
5
FOXJ3 promotes oncogenic behavior in breast cancer by regulating Snail expression
PMID: 37351974
6
FOXJ3 collaborates with THRA to promote tongue squamous cell carcinoma progression
PMID: 33868377
7
FOXJ3 supports glioma stem cell survival and is targeted by SOX2-regulated miR-425-5p
PMID: 32905473
8
FOXJ3 facilitates osteoclastogenesis in rheumatoid arthritis by promoting RGS1 transcription through enhancer RNA recruitment
PMID: 38904871
Disease Associationsⓘ20
esophageal diseaseOpen Targets
0.32Weak
Abruptio PlacentaeOpen Targets
0.20Weak
neoplasmOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Romano-Ward syndromeOpen Targets
0.07Suggestive
Familial short QT syndromeOpen Targets
0.07Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.07Suggestive
Idiopathic ventricular fibrillation, not Brugada typeOpen Targets
0.07Suggestive
Nijmegen breakage syndromeOpen Targets
0.07Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.06Suggestive
familial atrial fibrillationOpen Targets
0.06Suggestive
hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.06Suggestive
Brugada syndromeOpen Targets
0.05Suggestive
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.05Suggestive
ventricular fibrillation, paroxysmal familial, type 1Open Targets
0.05Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.05Suggestive
cardiomyopathy, dilated, 2IOpen Targets
0.05Suggestive
arrhythmogenic right ventricular dysplasia 1Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZSCAN21Shared pathway100%MYBL1Shared pathway67%CCNA1Shared pathway67%FOXJ2Shared pathway50%RPL10LShared pathway50%BTBD18Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
70%
Heart
62%
Ovary
54%
Lung
50%
Liver
36%
Gene Interaction Network
Click a node to explore
FOXJ3ZSCAN21MYBL1CCNA1FOXJ2RPL10LBTBD18
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UPW0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.42Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.21 [0.12–0.42]
RankingsWhere FOXJ3 stands among ~20K protein-coding genes
  • #10,006of 20,598
    Most Researched41
  • #2,201of 17,882
    Most Constrained (LOEUF)0.42 · top quartile
Genes detectedFOXJ3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human FOX gene family (Review).
PMID: 15492844
Int J Oncol · 2004
1.00
2
FoxJ3, a novel mammalian forkhead gene expressed in neuroectoderm, neural crest, and myotome.
PMID: 15366017
Dev Dyn · 2004
0.90
3
Integrin Subunit Alpha 5 (ITGA5) Gene Circular RNA Sponges microRNA-107 in Colorectal Carcinoma Cells and Tissues and Regulates the Expression of the Forkhead Box J3 (FOXJ3) Gene.
PMID: 32305992
Med Sci Monit · 2020
0.80
4
RGS1 Enhancer RNA Promotes Gene Transcription by Recruiting Transcription Factor FOXJ3 and Facilitates Osteoclastogenesis Through PLC-IP3R-dependent Ca
PMID: 38904871
Inflammation · 2025
0.70
5
FOXJ3 Regulates Cell Proliferation and Motility Through Modulating Snail Expression in Breast Cancer Cells.
PMID: 37351974
Anticancer Res · 2023
0.60