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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ZBTB4
zinc finger and BTB domain containing 4
Chromosome 17 · 17p13.1
NCBI Gene: 57659Ensembl: ENSG00000174282.13HGNC: HGNC:23847UniProt: B3KVD4
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II transcription regulatory region sequence-specific DNA bindingDNA damage responsenegative regulation of DNA-templated transcriptionnucleusneurodegenerative diseaseosteoarthritis, hipmyopiaatrial fibrillation
✦AI Summary

ZBTB4 (zinc finger and BTB domain containing 4) is a transcriptional repressor that functions as a tumor suppressor with bimodal DNA-binding specificity. The protein binds methylated CpG dinucleotides and represses transcription in a methyl-CpG-dependent manner 1. ZBTB4 plays a crucial role in maintaining genomic stability by regulating the mitotic checkpoint, with loss of ZBTB4 expression leading to increased aneuploidy, micronuclei formation, and chr17 instability 2. The protein is subject to post-translational regulation by HIPK2 kinase, which phosphorylates and promotes ZBTB4 degradation, particularly under DNA damage conditions 1. ZBTB4 exhibits tumor suppressive properties across multiple cancer types, including pancreatic cancer, endometrial cancer, Ewing sarcoma, and glioblastoma, where it inhibits cell proliferation, migration, and invasion while promoting apoptosis 3456. Clinically, ZBTB4 expression is frequently downregulated in various cancers and correlates with poor prognosis 25. Additionally, variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease, suggesting broader roles in neurodegenerative processes 7. The protein's involvement in epigenetic regulation and genomic stability makes it a potential therapeutic target for cancer treatment.

Sources cited
1
ZBTB4 binds methylated CpG dinucleotides, functions as transcriptional repressor, and is regulated by HIPK2 phosphorylation
PMID: 19448668
2
ZBTB4 maintains genomic stability by regulating mitotic checkpoint, and its loss increases aneuploidy and promotes tumorigenesis
PMID: 27815388
3
ZBTB4 acts as tumor suppressor in pancreatic cancer by inhibiting proliferation, migration and invasion
PMID: 36949454
4
ZBTB4 is downregulated in endometrial cancer and inhibits cell growth and metastasis
PMID: 36538280
5
ZBTB4 functions as tumor suppressor in Ewing sarcoma and correlates with patient survival
PMID: 29425745
6
ZBTB4 regulates glycolipid metabolism in glioblastoma through transcriptional suppression of metabolic genes
PMID: 34047477
7
ZBTB4 variants are associated with age-at-onset of Alzheimer's disease
PMID: 29045054
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
osteoarthritis, hipOpen Targets
0.15Weak
myopiaOpen Targets
0.15Weak
atrial fibrillationOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
glioblastoma multiformeOpen Targets
0.07Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
diverticular diseaseOpen Targets
0.06Suggestive
ventral herniaOpen Targets
0.06Suggestive
HypermetropiaOpen Targets
0.05Suggestive
mathematical abilityOpen Targets
0.05Suggestive
hypertensionOpen Targets
0.05Suggestive
familial glucocorticoid deficiencyOpen Targets
0.05Suggestive
medical procedureOpen Targets
0.05Suggestive
heart failureOpen Targets
0.05Suggestive
uterine fibroidOpen Targets
0.04Suggestive
spinal stenosisOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IGHMBP2Shared pathway100%ZNF432Shared pathway100%SUSD6Shared pathway100%SPINDOCShared pathway100%FLYWCH1Shared pathway100%DCPH1Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Ovary
100%
Brain
89%
Lung
61%
Bone Marrow
18%
Liver
16%
Gene Interaction Network
Click a node to explore
ZBTB4IGHMBP2ZNF432SUSD6SPINDOCFLYWCH1DCPH1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9P1Z0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.39Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.25 [0.16–0.39]
RankingsWhere ZBTB4 stands among ~20K protein-coding genes
  • #11,447of 20,598
    Most Researched33
  • #1,871of 17,882
    Most Constrained (LOEUF)0.39 · top quartile
Genes detectedZBTB4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Multi-omics profiling of DNA methylation and gene expression alterations in human cocaine use disorder.
PMID: 39384764
Transl Psychiatry · 2024
1.00
2
The human protein kinase HIPK2 phosphorylates and downregulates the methyl-binding transcription factor ZBTB4.
PMID: 19448668
Oncogene · 2009
0.90
3
Identification of ZBTB4 as an immunological biomarker that can inhibit the proliferation and invasion of pancreatic cancer.
PMID: 36949454
BMC Cancer · 2023
0.80
4
Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease.
PMID: 29045054
Genes Brain Behav · 2018
0.70
5
Glioma glycolipid metabolism: MSI2-SNORD12B-FIP1L1-ZBTB4 feedback loop as a potential treatment target.
PMID: 34047477
Clin Transl Med · 2021
0.60