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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ZBTB14
zinc finger and BTB domain containing 14
Chromosome 18 · 18p11.31
NCBI Gene: 7541Ensembl: ENSG00000198081.12HGNC: HGNC:12860UniProt: B2R850
48PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnegative regulation of DNA-templated transcriptionnucleoplasmnucleusneurodegenerative diseaseanemia (phenotype)alcohol drinkingglomerulonephritis
✦AI Summary

ZBTB14 is a zinc finger and BTB domain-containing transcription factor that functions as both a transcriptional activator and repressor with diverse roles in development, metabolism, and disease. In neural development, ZBTB14 promotes dorsalization of ectoderm by inhibiting BMP signaling and posteriorizes neural tissue by activating Wnt signaling, coordinating dorsal-ventral and anterior-posterior axis patterning 1. ZBTB14 regulates skeletal muscle inflammatory responses through transcriptional control of IL6 and LIF cytokine expression in an AMPK-dependent manner 2. The protein also functions in muscle fiber differentiation, with binding sites enriched in fast glycolytic muscle regulatory programs 3. Disease relevance is significant: ZBTB14 variants are associated with lacunar stroke susceptibility, identified at the ZBTB14-EPB41L3 locus in genome-wide association studies of 7,338 cases and 254,798 controls 4. In breast cancer, ZBTB14 suppresses radiotherapy resistance by transcriptionally repressing TMEM208, with downregulation of ZBTB14 observed in radiotherapy-resistant tumors 5. ZBTB14 promotes non-alcoholic fatty liver disease-associated fibrosis via β-catenin pathway activation in hepatic stellate cells 6. ZBTB14 was identified as a top predicted transcription factor in systemic lupus erythematosus CD4+ T cell dysfunction 7. These findings establish ZBTB14 as a multifunctional regulator with therapeutic potential in vascular, oncologic, hepatic, and autoimmune diseases.

Sources cited
1
ZBTB14 promotes dorsalization of ectoderm by inhibiting BMP signaling and posteriorizes neural tissue by activating Wnt signaling during early embryonic development
PMID: 36166855
2
ZBTB14 regulates IL6 and LIF mRNA expression in skeletal muscle downstream of AMPK activation
PMID: 29688769
3
ZBTB14 binding sites are enriched in fast glycolytic muscle regulatory programs
PMID: 34752468
4
ZBTB14-EPB41L3 locus is associated with lacunar stroke susceptibility in genome-wide association studies
PMID: 33773637
5
ZBTB14 suppresses breast cancer radiotherapy resistance by transcriptionally repressing TMEM208
PMID: 39692812
6
ZBTB14 promotes non-alcoholic fatty liver disease-associated fibrosis via the β-catenin pathway
PMID: 37796689
7
ZBTB14 is a top predicted transcription factor in systemic lupus erythematosus CD4+ T cell dysfunction
PMID: 36738683
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.55Moderate
anemia (phenotype)Open Targets
0.27Weak
alcohol drinkingOpen Targets
0.14Weak
glomerulonephritisOpen Targets
0.10Weak
metabolic syndromeOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
HeterotaxiaOpen Targets
0.05Suggestive
megabladder, congenitalOpen Targets
0.04Suggestive
genito-palato-cardiac syndromeOpen Targets
0.04Suggestive
Nasal polyposisOpen Targets
0.04Suggestive
Fallot complex - intellectual disability - growth delayOpen Targets
0.04Suggestive
fallot complex-intellectual disability-growth delay syndromeOpen Targets
0.04Suggestive
congenital heart defects, multiple types, 6Open Targets
0.04Suggestive
Congenitally uncorrected transposition of the great arteriesOpen Targets
0.04Suggestive
congenital heart defects, multiple types, 4Open Targets
0.04Suggestive
congenital heart diseaseOpen Targets
0.04Suggestive
ventricular septal defect 1Open Targets
0.04Suggestive
heterotaxy, visceral, 12, autosomalOpen Targets
0.04Suggestive
Yuksel-Vogel-Bauer syndromeOpen Targets
0.04Suggestive
trauma complicationOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZBTB34Shared pathway100%ZBTB12Shared pathway100%ZNF572Shared pathway100%ZBTB45Shared pathway100%ZBTB37Shared pathway100%ZBTB26Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
89%
Heart
69%
Liver
59%
Ovary
50%
Lung
43%
Gene Interaction Network
Click a node to explore
ZBTB14ZBTB34ZBTB12ZNF572ZBTB45ZBTB37ZBTB26
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O43829
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.22Tolerant
Observed/Expected LoF0.44 [0.23–0.93]
RankingsWhere ZBTB14 stands among ~20K protein-coding genes
  • #9,161of 20,598
    Most Researched48
  • #8,620of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedZBTB14
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrated analysis of ATAC-seq and RNA-seq reveals the transcriptional regulation network in SLE.
PMID: 36738683
Int Immunopharmacol · 2023
1.00
2
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
PMID: 33773637
Lancet Neurol · 2021
0.90
3
Zbtb21 is required for the anterior-posterior patterning of neural tissue in the early Xenopus embryo.
PMID: 36166855
Biochem Biophys Res Commun · 2022
0.80
4
IL6 and LIF mRNA expression in skeletal muscle is regulated by AMPK and the transcription factors NFYC, ZBTB14, and SP1.
PMID: 29688769
Am J Physiol Endocrinol Metab · 2018
0.70
5
Zbtb14 Promotes Non-Alcoholic Fatty Liver Disease-Associated Fibrosis in Gerbils via the β-Catenin Pathway.
PMID: 37796689
Front Biosci (Landmark Ed) · 2023
0.60