1 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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7PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETranscription Factor
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingDNA-binding transcription factor activity, RNA polymerase II-specificRNA polymerase II cis-regulatory region sequence-specific DNA bindingregulation of transcription by RNA polymerase IIneurodegenerative diseaseearly-onset non-syndromic cataractTotal congenital cataractCataract-microcornea syndrome
Based on limited published evidence, ZSCAN5B is a zinc finger transcription factor involved in transcriptional regulation. It functions as an RNA polymerase II-specific DNA-binding transcription factor that localizes to the nucleus and regulates transcription through binding to cis-regulatory regions 1. ZSCAN5B also binds RNA polymerase III promoters and extra-TFIIIC sites with high specificity to conserved Pol III genes, and participates in cell-cycle regulation and mitotic progression through cooperative mechanisms with related ZSCAN family members 1. The protein exhibits DNA-binding and transcriptional regulatory activities through protein-protein interactions.
1
ZSCAN5B binds RNA polymerase III genes and extra-TFIIIC sites with high specificity; involved in regulation of mitotic progression and cell cycle regulation through cooperation with primate-specific ZSCAN paralogs
PMID: 27732952⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
early-onset non-syndromic cataractOpen Targets
Total congenital cataractOpen Targets
Cataract-microcornea syndromeOpen Targets
Partial congenital cataractOpen Targets
early-onset nuclear cataractOpen Targets
FRAXF syndromeOpen Targets
Cataract with Y-shaped suture opacitiesOpen Targets
Posterior polar cataractOpen Targets
early-onset zonular cataractOpen Targets
pulverulent cataractOpen Targets
isolated ectopia lentisOpen Targets
mosaic variegated aneuploidy syndrome 4Open Targets
Anterior polar cataractOpen Targets
Benign familial choreaOpen Targets
hereditary hyperferritinemia with congenital cataractsOpen Targets
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaOpen Targets
spinocerebellar ataxia, autosomal recessive 24Open Targets
No pathogenic variants reported on ClinVar for this gene.