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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZBTB45
zinc finger and BTB domain containing 45
Chromosome 19 Β· 19q13.43
NCBI Gene: 84878Ensembl: ENSG00000119574.14HGNC: HGNC:23715UniProt: Q96K62
12PubMed Papers
16Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingsequence-specific double-stranded DNA bindingnegative regulation of transcription by RNA polymerase IIregulation of cytokine productionmetabolic syndromehemoglobin D diseasehemoglobin E diseaseghosal hematodiaphyseal dysplasia
✦AI Summary

Based on limited published evidence, ZBTB45 is a zinc finger and BTB domain-containing protein likely involved in transcriptional regulation through RNA polymerase II-mediated repression and sequence-specific DNA binding. In the central nervous system, it may participate in glial cell differentiation. GO annotations indicate roles in immune system regulation and cytokine production control. ZBTB45 DNA methylation patterns have been identified as potential epigenetic biomarkers associated with metabolic health status transitions 1, though functional validation remains needed.

Sources cited
1
ZBTB45 CpG methylation sites were differentially methylated between metabolically healthy obesity phenotypes and associated with immune system-related pathway changes
PMID: 34638758
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜16
metabolic syndromeOpen Targets
0.07Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
ghosal hematodiaphyseal dysplasiaOpen Targets
0.03Suggestive
Blackfan-Diamond anemiaOpen Targets
0.03Suggestive
osteonecrosisOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
Duchenne muscular dystrophyOpen Targets
0.00Suggestive
Becker muscular dystrophyOpen Targets
0.00Suggestive
craniofacial microsomiaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ZBTB14Shared pathway100%ZBTB25Shared pathway100%ZNF131Shared pathway100%ZNF134Shared pathway100%ZBTB39Shared pathway100%ZBTB6Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Lung
77%
Liver
66%
Brain
63%
Heart
44%
Bone Marrow
30%
Gene Interaction Network
Click a node to explore
ZBTB45ZBTB14ZBTB25ZNF131ZNF134ZBTB39ZBTB6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96K62
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.60 [0.40–0.94]
RankingsWhere ZBTB45 stands among ~20K protein-coding genes
  • #16,625of 20,598
    Most Researched12
  • #8,736of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedZBTB45
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Epigenetic Biomarkers of Transition from Metabolically Healthy Obesity to Metabolically Unhealthy Obesity Phenotype: A Prospective Study.
PMID: 34638758
Int J Mol Sci Β· 2021
1.00