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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TFAP2E
transcription factor AP-2 epsilon
Chromosome 1 · 1p34.3
NCBI Gene: 339488Ensembl: ENSG00000116819.9HGNC: HGNC:30774UniProt: Q6VUC0
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificDNA-binding transcription activator activity, RNA polymerase II-specificRNA polymerase II transcription regulatory region sequence-specific DNA bindingneurodegenerative diseasesystemic sclerodermasystemic lupus erythematosusmelanoma
✦AI Summary

TFAP2E (transcription factor AP-2 epsilon) is a sequence-specific DNA-binding transcription factor that plays critical roles in embryonic development and cancer biology. TFAP2E functions as a transcriptional regulator that binds to specific DNA sequences and controls gene expression programs essential for central nervous system, orofacial, and maxillofacial development 1. In zebrafish models, loss of tfap2e results in hydrocephalus, reduced brain volume consistent with microcephaly, and orofacial anomalies, demonstrating its crucial role in neural development 1. In cancer contexts, TFAP2E exhibits tumor-suppressive properties, with its expression frequently silenced through promoter hypermethylation 234. TFAP2E hypermethylation is significantly associated with chemotherapy resistance, particularly to fluorouracil-based treatments in colorectal and gastric cancers 23. The mechanism involves TFAP2E regulation of DKK4, where loss of TFAP2E expression leads to increased DKK4 levels and subsequent chemoresistance 2. Additionally, TFAP2E can be regulated by metabolic factors, as squalene accumulation can interfere with TFAP2E promoter activity through Sp1 binding, affecting mitochondrial metabolism 5. Clinically, TFAP2E methylation status serves as a potential biomarker for predicting chemotherapy response in cancer patients 23.

Sources cited
1
TFAP2E variants cause CNS, orofacial and maxillofacial anomalies; zebrafish models show hydrocephalus and microcephaly phenotypes
PMID: 39715634
2
Squalene accumulation can interfere with TFAP2E expression through Sp1-promoter complex formation
PMID: 40015662
3
TFAP2E hypermethylation is associated with chemotherapy nonresponse in colorectal cancer through DKK4-mediated resistance
PMID: 22216841
4
TFAP2E hypermethylation predicts fluorouracil resistance in gastric cancer
PMID: 25810491
5
TFAP2E methylation does not strongly correlate with protein expression loss in colorectal cancer
PMID: 29535127
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
systemic sclerodermaOpen Targets
0.13Weak
systemic lupus erythematosusOpen Targets
0.12Weak
melanomaOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.04Suggestive
HydrocephalusOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.02Suggestive
osteoarthritisOpen Targets
0.02Suggestive
retinoblastomaOpen Targets
0.02Suggestive
bladder transitional cell carcinomaOpen Targets
0.01Suggestive
microphthalmia with limb anomaliesOpen Targets
0.01Suggestive
neuroblastomaOpen Targets
0.01Suggestive
urinary bladder carcinomaOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
gastric adenocarcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
adrenal cortex carcinomaOpen Targets
0.01Suggestive
chondrosarcomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TFAP2DShared pathway100%CDCA7Shared pathway100%GKN2Shared pathway100%BRICD5Shared pathway100%TRAPPC14Shared pathway50%NACC1Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
30%
Brain
23%
Lung
15%
Liver
6%
Heart
5%
Gene Interaction Network
Click a node to explore
TFAP2ETFAP2DCDCA7GKN2BRICD5TRAPPC14NACC1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6VUC0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.42LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.05 [0.78–1.42]
RankingsWhere TFAP2E stands among ~20K protein-coding genes
  • #15,414of 20,598
    Most Researched16
  • #14,630of 17,882
    Most Constrained (LOEUF)1.42
Genes detectedTFAP2E
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 39715634
J Med Genet · 2025
1.00
2
SQLE-catalyzed squalene metabolism promotes mitochondrial biogenesis and tumor development in K-ras-driven cancer.
PMID: 40015662
Cancer Lett · 2025
0.90
3
Crucial role of the transcription factors family activator protein 2 in cancer: current clue and views.
PMID: 37291585
J Transl Med · 2023
0.80
4
PMID: 29535127
Clin Cancer Res · 2018
0.70
5
TFAP2E methylation status and prognosis of patients with radically resected colorectal cancer.
PMID: 25341849
Oncology · 2015
0.60