1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
12PubMed Papers
16Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETranscription Factor
DATA QUALITYβ Experimental GO Evidenceβ 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
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.
1
ZBTB45 CpG methylation sites were differentially methylated between metabolically healthy obesity phenotypes and associated with immune system-related pathway changes
PMID: 34638758β Limited data available β This gene has 1 indexed publication. Summary and analysis may be incomplete.
metabolic syndromeOpen Targets
hemoglobin D diseaseOpen Targets
hemoglobin E diseaseOpen Targets
ghosal hematodiaphyseal dysplasiaOpen Targets
Blackfan-Diamond anemiaOpen Targets
osteonecrosisOpen Targets
Alzheimer diseaseOpen Targets
Duchenne muscular dystrophyOpen Targets
Becker muscular dystrophyOpen Targets
craniofacial microsomiaOpen Targets
cervical cancerOpen Targets
hepatocellular carcinomaOpen Targets
Hereditary breast cancerOpen Targets
hereditary breast carcinomaOpen Targets
ovarian serous cystadenocarcinomaOpen Targets
No pathogenic variants reported on ClinVar for this gene.