4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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20PubMed Papers
17Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETranscription Factor
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingprotein bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingregulation of transcription by RNA polymerase IIhepatocellular carcinomaneoplasmhypotrichosis 1cancer
ZSCAN9 is a zinc finger transcription factor containing a conserved SCAN box domain that functions in transcriptional regulation 1. The protein binds sequence-specific double-stranded DNA and regulates transcription through RNA polymerase II-specific mechanisms. ZSCAN9 expression is modulated by genetic variants, with the most significant placental eQTLs affecting ZSCAN9 expression levels, and specific SNPs (including rs1150707) influencing both ZSCAN9 transcription and methylation patterns in regions variably escaping X-chromosome 6 2. Autosomal genetic variation at the ZSCAN9 locus is associated with female-specific changes in X-chromosome 6 and variable escape from X-chromosome 6 3. In disease context, transcriptome-wide association studies identify ZSCAN9 as a potential causal gene in Graves' ophthalmopathy, an autoimmune orbital condition, with suggestive evidence from Mendelian randomization analysis and evidence of shared genetic signals with disease-associated variants 4. These findings suggest ZSCAN9 participates in both normal epigenetic regulation and potentially contributes to autoimmune disease pathogenesis, warranting further investigation into its therapeutic potential.
1
ZSCAN9 is a zinc finger protein containing the conserved SCAN box domain and belongs to the Krüppel family
PMID: 92444362
ZSCAN9 is modulated by several placental eQTL signals (most significant eQTLs), with rs1150707 affecting both ZSCAN9 expression and methylation of genes escaping X-inactivation
PMID: 312448873
Genetic variation at the ZSCAN9 locus is associated with female-specific X-chromosome methylation changes and variable X-chromosome inactivation escape
PMID: 302180404
ZSCAN9 is identified as a potential causal gene in Graves' ophthalmopathy through transcriptome-wide association studies, with suggestive Mendelian randomization evidence and shared genetic signals with disease variants
PMID: 41338297⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
hepatocellular carcinomaOpen Targets
hypotrichosis 1Open Targets
rheumatoid arthritisOpen Targets
diabetic nephropathyOpen Targets
major depressive disorderOpen Targets
depressive disorderOpen Targets
gastroesophageal reflux diseaseOpen Targets
irritable bowel syndromeOpen Targets
neurotic disorderOpen Targets
Crohn's diseaseOpen Targets
iron poisoningOpen Targets
gastric cancerOpen Targets
uterine corpus endometrial carcinomaOpen Targets
No pathogenic variants reported on ClinVar for this gene.