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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ZBTB48
zinc finger and BTB domain containing 48
Chromosome 1 · 1p36.31
NCBI Gene: 3104Ensembl: ENSG00000204859.14HGNC: HGNC:4930UniProt: A8K291
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of DNA-templated transcriptionregulation of RNA metabolic processdouble-stranded telomeric DNA bindingchromosome, telomeric regionneurodegenerative diseaseangiosarcomahepatocellular carcinomacolorectal carcinoma
✦AI Summary

ZBTB48 is a multifunctional zinc finger transcription factor that operates at the intersection of telomere maintenance, transcriptional regulation, and RNA metabolism. Structurally, it contains a BTB domain and C2H2-zinc fingers that enable direct binding to telomeric double-stranded TTAGGG repeats 1. Primary to its function, ZBTB48 acts as a negative regulator of telomere length by preferentially binding elongated telomeres with low shelterin complex occupancy and initiating telomere trimming to prevent aberrant lengthening 1. Beyond telomeric roles, ZBTB48 functions as a transcriptional activator binding promoter regions of select genes, notably MTFP1, which regulates mitochondrial fission 12. ZBTB48 also directly activates the B-cell-specific CIITA promoter, priming MHC class II gene expression through chr1 remodeling 3. Recently identified is its role in epitranscriptomic regulation: ZBTB48 recruits the m6A/m6Am demethylase FTO to target mRNAs, controlling substrate selectivity and modulating RNA decay rates 4. Additionally, ZBTB48 negatively regulates cell proliferation by activating ARF, a tumor suppressor isoform of CDKN2A. Clinically, ZBTB48 expression shows complex associations with cancer prognosis, with elevated expression correlating with poorer outcomes in hepatocellular and cervical carcinomas 56, suggesting roles in cancer progression.

Sources cited
1
ZBTB48 binds directly to telomeric TTAGGG repeats and acts as a negative regulator of telomere length; also acts as transcriptional activator of genes including MTFP1
PMID: 28500257
2
ZBTB48 regulates mtfp1 expression at mRNA and protein levels; demonstrates evolutionary conservation of this regulatory function
PMID: 39987415
3
ZBTB48 directly binds the B-cell-specific CIITA promoter and primes CIITA/MHC-II expression through chromatin opening
PMID: 39562739
4
ZBTB48 associates with FTO demethylase and facilitates its recruitment to target mRNAs to regulate m6A/m6Am modifications and RNA decay
PMID: 39300486
5
ZBTB48 expression in hepatocellular carcinoma is associated with poorer overall and disease-free survival
PMID: 36556980
6
ZBTB48 expression correlates with shorter overall survival in cervical cancer, particularly in N1 stage disease
PMID: 32344888
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
angiosarcomaOpen Targets
0.27Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
hypertensionOpen Targets
0.04Suggestive
gliomaOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
obesityOpen Targets
0.03Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
response to xenobiotic stimulusOpen Targets
0.03Suggestive
migraine disorderOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
overnutritionOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
neuroblastomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
STK11IPProtein interaction78%ZSCAN4Shared pathway50%CTC1Shared pathway17%STN1Shared pathway14%DCLRE1BShared pathway14%TUT1Shared pathway14%
Tissue Expression6 tissues
Liver
100%
Ovary
70%
Lung
55%
Bone Marrow
42%
Heart
22%
Brain
15%
Gene Interaction Network
Click a node to explore
ZBTB48STK11IPZSCAN4CTC1STN1DCLRE1BTUT1
PROTEIN STRUCTURE
Preparing viewer…
PDB3B84 · 1.74 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.74LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.43–0.74]
RankingsWhere ZBTB48 stands among ~20K protein-coding genes
  • #9,962of 20,598
    Most Researched42
  • #5,809of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedZBTB48
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CircRNF10 triggers a positive feedback loop to facilitate progression of glioblastoma via redeploying the ferroptosis defense in GSCs.
PMID: 37723588
J Exp Clin Cancer Res · 2023
1.00
2
Zbtb48 is a regulator of Mtfp1 expression in zebrafish.
PMID: 39987415
Commun Biol · 2025
0.90
3
ZBTB48 is a priming factor regulating B-cell-specific CIITA expression.
PMID: 39562739
EMBO J · 2024
0.80
4
Recruitment of the m
PMID: 39300486
Genome Biol · 2024
0.70
5
ZBTB48 is both a vertebrate telomere-binding protein and a transcriptional activator.
PMID: 28500257
EMBO Rep · 2017
0.60