HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZBTB49
zinc finger and BTB domain containing 49
Chromosome 4 · 4p16.3
NCBI Gene: 166793Ensembl: ENSG00000168826.17HGNC: HGNC:19883UniProt: Q6ZSB9
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleusnegative regulation of cell population proliferationregulation of cell cyclefrozen shouldercancervestibular diseasecentral nervous system origin vertigo
✦AI Summary

ZBTB49 (also known as ZNF509) is a zinc finger transcription factor that functions as a cell cycle regulator and potential tumor suppressor. The gene produces multiple isoforms through alternative splicing, with distinct functions in the DNA damage response 1. The long isoform (ZBTB49L) activates p21/CDKN1A transcription by binding its promoter and recruiting co-activator p300, while the short isoform (ZBTB49S1) activates RB transcription by antagonizing the MIZF repressor at the RB promoter 1. Both isoforms are induced by p53 upon genotoxic stress to inhibit cell proliferation 1. ZBTB49S1 additionally modulates p53 post-translational modifications by inhibiting p300-mediated K382 acetylation, thereby suppressing p53-driven PUMA transcription and preventing apoptosis under severe DNA damage 2. ZBTB49 shows tumor-suppressive characteristics, with high expression in normal epithelial cells but complete repression in colorectal, lung, and skin tumor tissues 1. In pathological contexts, ZBTB49 has been identified as a potential FOLFOX chemotherapy response predictor in colorectal cancer 3 and as a target of TGF-β-regulated miRNAs in lung fibroblasts 4, suggesting roles in therapy resistance and fibrotic disease pathogenesis.

Sources cited
1
ZBTB49 isoforms induce cell-cycle arrest; ZBTB49L activates p21/CDKN1A transcription while ZBTB49S1 activates RB; both are induced by p53 upon DNA damage; ZBTB49 is highly expressed in normal epithelial cells but completely repressed in tumor tissues
PMID: 25245946
2
ZBTB49S1 inhibits p300-mediated p53 K382 acetylation, decreasing p53 DNA binding at PUMA promoter and suppressing apoptosis under severe DNA damage
PMID: 28757384
3
ZBTB49 is identified as one of 14 genes in a procedure capable of predicting FOLFOX chemotherapy response in colorectal cancer
PMID: 39596218
4
ZBTB49 is identified as a miR-21-3p target gene in TGF-β1-stimulated primary lung fibroblasts
PMID: 28910321
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
frozen shoulderOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
vestibular diseaseOpen Targets
0.04Suggestive
central nervous system origin vertigoOpen Targets
0.03Suggestive
peripheral vertigoOpen Targets
0.03Suggestive
Myasthenia gravisOpen Targets
0.03Suggestive
inner ear diseaseOpen Targets
0.03Suggestive
type 1 diabetes mellitusOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
skin neoplasmOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
familial pancreatic carcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PLAGL1Shared pathway60%ZBTB17Shared pathway50%ZBTB34Shared pathway50%ZBTB12Shared pathway50%ZNF572Shared pathway50%ZBTB45Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
54%
Liver
38%
Lung
33%
Heart
32%
Brain
22%
Gene Interaction Network
Click a node to explore
ZBTB49PLAGL1ZBTB17ZBTB34ZBTB12ZNF572ZBTB45
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6ZSB9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.43–0.83]
RankingsWhere ZBTB49 stands among ~20K protein-coding genes
  • #14,070of 20,598
    Most Researched21
  • #7,046of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedZBTB49
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Radial Data Visualization-Based Step-by-Step Eliminative Algorithm to Predict Colorectal Cancer Patients' Response to FOLFOX Therapy.
PMID: 39596218
Int J Mol Sci · 2024
1.00
2
Identification of transforming growth factor-beta-regulated microRNAs and the microRNA-targetomes in primary lung fibroblasts.
PMID: 28910321
PLoS One · 2017
0.80
3
Two ZNF509 (ZBTB49) isoforms induce cell-cycle arrest by activating transcription of p21/CDKN1A and RB upon exposure to genotoxic stress.
PMID: 25245946
Nucleic Acids Res · 2014
0.60
4
ZNF509S1 downregulates PUMA by inhibiting p53K382 acetylation and p53-DNA binding.
PMID: 28757384
Biochim Biophys Acta Gene Regul Mech · 2017
0.40
5
CircRNA ZNF609 promotes angiogenesis in nasopharyngeal carcinoma by regulating miR-145/STMN1 axis.
PMID: 33943007
Kaohsiung J Med Sci · 2021
0.20