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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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E2F6
E2F transcription factor 6
Chromosome 2 · 2p25.1
NCBI Gene: 1876Ensembl: ENSG00000169016.18HGNC: HGNC:3120UniProt: A0A0S2Z3K8
108PubMed Papers
20Diseases
1Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA-binding transcription repressor activity, RNA polymerase II-specificnegative regulation of transcription by RNA polymerase IIRNA polymerase II transcription regulatory region sequence-specific DNA bindingnucleusatrial fibrillationneurodegenerative diseasehypertrophic cardiomyopathymetabolic disease
✦AI Summary

E2F6 is a transcriptional repressor belonging to the inhibitor subclass of E2F family proteins that lacks transcriptional activation and pocket protein binding domains 1. E2F6 functions as an inhibitor of E2F-dependent transcription by binding DNA cooperatively with DP proteins through E2 recognition sites, with preference for 5'-TTTCCCGC-3' sequences 1. Mechanistically, E2F6 appears to regulate cell cycle entry by repressing expression of E2F-dependent genes required for cell cycle initiation but not progression 1. E2F6 also represses meiosis-specific genes, and its mRNA is destabilized by MEIOC-YTHDC2-RBM46 complex during spermatogenesis, leading to derepression of meiosis-associated genes including Meiosin 2. E2F6 forms complexes with Polycomb proteins SUZ12 and EZH2, which may modulate its repressive activity 3. Disease relevance includes roles in cancer progression, where E2F6 can facilitate immune escape in esophageal cancer through the LINC01592/E2F6/NBR1/MHC-I axis 4 and serves as a prognostic biomarker across multiple cancer types 5. Clinically, E2F6 expression correlates with cancer prognosis and immunotherapy responses, suggesting potential therapeutic targeting applications 5.

Sources cited
1
E2F6 is an inhibitor E2F family member lacking activation and pocket protein binding domains
PMID: 24440307
2
E2F6 mRNA is destabilized by MEIOC complex during spermatogenesis, derepressing meiosis genes
PMID: 38884383
3
E2F6 forms complexes with Polycomb proteins SUZ12 and EZH2
PMID: 36464274
4
E2F6 facilitates immune escape in esophageal cancer through LINC01592/E2F6/NBR1/MHC-I axis
PMID: 37915049
5
E2F6 serves as prognostic biomarker and predictor of immunotherapy responses in cancer
PMID: 38071912
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.36Weak
hypertrophic cardiomyopathyOpen Targets
0.35Weak
metabolic diseaseOpen Targets
0.31Weak
heart failureOpen Targets
0.29Weak
MalabsorptionOpen Targets
0.28Weak
ciliary dyskinesia, primary, 40Open Targets
0.27Weak
Uterine leiomyomaOpen Targets
0.27Weak
coronary artery diseaseOpen Targets
0.26Weak
ovarian cancerOpen Targets
0.10Suggestive
parasitic infectionOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
azoospermiaOpen Targets
0.07Suggestive
nasopharyngeal carcinomaOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
Pathogenic Variants1
NM_198256.4(E2F6):c.380_380+16delLikely pathogenic
Ciliary dyskinesia, primary, 40
★☆☆☆2022
View on ClinVar ↗
Drug Targets1
EDIFOLIGIDE SODIUMPhase III
E2F inhibitor
coronary artery disease
Related Genes
H2AL3Shared pathway100%H2AC21Shared pathway100%H2AC1Shared pathway100%AEBP2Shared pathway100%H2AC12Shared pathway100%CBX2Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
82%
Ovary
80%
Liver
77%
Lung
63%
Bone Marrow
36%
Gene Interaction Network
Click a node to explore
E2F6H2AL3H2AC21H2AC1AEBP2H2AC12CBX2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O75461
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.47–1.07]
RankingsWhere E2F6 stands among ~20K protein-coding genes
  • #4,401of 20,598
    Most Researched108 · top quartile
  • #4,858of 5,498
    Most Pathogenic Variants1
  • #10,858of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedE2F6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Tumor-associated macrophage-derived exosomes LINC01592 induce the immune escape of esophageal cancer by decreasing MHC-I surface expression.
PMID: 37915049
J Exp Clin Cancer Res · 2023
1.00
2
Destabilization of mRNAs enhances competence to initiate meiosis in mouse spermatogenic cells.
PMID: 38884383
Development · 2024
0.90
3
Molecular cloning and characterization of the mouse E2F6 gene.
PMID: 11594747
Biochem Biophys Res Commun · 2001
0.80
4
A positive feedback loop of CENPU/E2F6/E2F1 facilitates proliferation and metastasis via ubiquitination of E2F6 in hepatocellular carcinoma.
PMID: 35844791
Int J Biol Sci · 2022
0.70
5
Predictive role of E2F6 in cancer prognosis and responses of immunotherapy.
PMID: 38071912
Int Immunopharmacol · 2024
0.60