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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ZBTB17
zinc finger and BTB domain containing 17
Chromosome 1 · 1p36.13
NCBI Gene: 7709Ensembl: ENSG00000116809.13HGNC: HGNC:12936UniProt: Q13105
101PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription coactivator bindingnegative regulation of cell population proliferationprotein-containing complexpositive regulation of transcription by RNA polymerase IIneurodegenerative diseaseatrial fibrillationdilated cardiomyopathyJaundice
✦AI Summary

ZBTB17 is a zinc finger transcription factor functioning as both activator and repressor depending on binding partners, with critical roles across multiple biological systems. In early development, ZBTB17 is essential for peri-implantation embryogenesis, collaborating with KDM6A/B to resolve bivalent chr1 and prime pluripotency gene activation 1. It regulates lymphocyte development by preventing apoptosis in lymphoid precursors and promoting lineage commitment 2. In cardiac physiology, ZBTB17 protects cardiomyocytes from apoptosis and regulates hypertrophy; loss-of-function mutations cause dilated cardiomyopathy with autosomal dominant inheritance 34. Beyond development, ZBTB17 promotes peroxisome biogenesis by transcriptionally regulating PEX13, affecting peroxisomal protein import and nucleotide metabolism 5. Mechanistically, ZBTB17 modulates the NF-κB signaling pathway, with dysregulation implicated in Alzheimer's disease and atherosclerosis pathogenesis 6. The protein's multifaceted regulatory roles position it as a disease candidate gene with therapeutic potential in cardiovascular and neurodegenerative conditions.

Sources cited
1
ZBTB17 is essential for peri-implantation embryogenesis and collaborates with KDM6A/B to resolve bivalent chromatin by removing H3K27me3
PMID: 41034520
2
ZBTB17 regulates lineage commitment and differentiation of B cells in the lymphoid lineage
PMID: 29616049
3
ZBTB17 protects cardiac myocytes from apoptosis and regulates cardiac hypertrophy; cardiac-specific deletion causes cardiomyopathy and fibrosis
PMID: 26175529
4
ZBTB17 loss-of-function mutation (p.E243X) causes familial dilated cardiomyopathy with autosomal dominant inheritance and complete penetrance
PMID: 29445930
5
ZBTB17 acts as a transcription factor to regulate PEX13 expression, promoting peroxisomal protein import and affecting nucleotide metabolism
PMID: 40243840
6
ZBTB17 modulates the NF-κB signaling pathway and contributes to shared molecular mechanisms between Alzheimer's disease and atherosclerosis
PMID: 38738952
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.43Moderate
atrial fibrillationOpen Targets
0.27Weak
dilated cardiomyopathyOpen Targets
0.26Weak
JaundiceOpen Targets
0.24Weak
Alzheimer diseaseOpen Targets
0.09Suggestive
heart failureOpen Targets
0.09Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.08Suggestive
open-angle glaucomaOpen Targets
0.08Suggestive
congestive heart failureOpen Targets
0.06Suggestive
myelodysplastic syndromeOpen Targets
0.06Suggestive
response to statinOpen Targets
0.05Suggestive
emphysemaOpen Targets
0.04Suggestive
neuroblastomaOpen Targets
0.04Suggestive
acute tonsillitisOpen Targets
0.04Suggestive
hypertensionOpen Targets
0.04Suggestive
response to xenobiotic stimulusOpen Targets
0.04Suggestive
Increased blood pressureOpen Targets
0.03Suggestive
cardiomyopathyOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
non-alcoholic steatohepatitisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TOPBP1Protein interaction85%ZBTB4Protein interaction84%MAXProtein interaction83%MYCNProtein interaction83%HUWE1Protein interaction83%MYCProtein interaction82%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
54%
Ovary
47%
Liver
37%
Heart
23%
Brain
20%
Gene Interaction Network
Click a node to explore
ZBTB17TOPBP1ZBTB4MAXMYCNHUWE1MYC
PROTEIN STRUCTURE
Preparing viewer…
PDB7T58 · 2.05 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.44Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.31 [0.23–0.44]
RankingsWhere ZBTB17 stands among ~20K protein-coding genes
  • #4,758of 20,598
    Most Researched101 · top quartile
  • #2,414of 17,882
    Most Constrained (LOEUF)0.44 · top quartile
Genes detectedZBTB17
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Remodelling bivalent chromatin is essential for mouse peri-implantation embryogenesis.
PMID: 41034520
Nat Cell Biol · 2025
1.00
2
Meta-analysis and transcriptomic analysis reveal that NKRF and ZBTB17 regulate the NF-κB signaling pathway, contributing to the shared molecular mechanisms of Alzheimer's disease and atherosclerosis.
PMID: 38738952
CNS Neurosci Ther · 2024
0.90
3
ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure.
PMID: 26175529
Circ Cardiovasc Genet · 2015
0.80
4
ZBTB17/MIZ1 promotes peroxisome biogenesis by transcriptional regulation of PEX13.
PMID: 40243840
J Cell Biol · 2025
0.70
5
Regulation of the Development and Function of B Cells by ZBTB Transcription Factors.
PMID: 29616049
Front Immunol · 2018
0.60