HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZSCAN9
zinc finger and SCAN domain containing 9
Chromosome 6 · 6p22.1
NCBI Gene: 7746Ensembl: ENSG00000137185.13HGNC: HGNC:12984UniProt: A0A0B4J224
20PubMed Papers
17Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription 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
✦AI Summary

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.

Sources cited
1
ZSCAN9 is a zinc finger protein containing the conserved SCAN box domain and belongs to the Krüppel family
PMID: 9244436
2
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: 31244887
3
Genetic variation at the ZSCAN9 locus is associated with female-specific X-chromosome methylation changes and variable X-chromosome inactivation escape
PMID: 30218040
4
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.
Disease Associationsⓘ17
hepatocellular carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.04Suggestive
hypotrichosis 1Open Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
rheumatoid arthritisOpen Targets
0.01Suggestive
diabetic nephropathyOpen Targets
0.01Suggestive
major depressive disorderOpen Targets
0.01Suggestive
epilepsyOpen Targets
0.00Suggestive
depressive disorderOpen Targets
0.00Suggestive
gastroesophageal reflux diseaseOpen Targets
0.00Suggestive
irritable bowel syndromeOpen Targets
0.00Suggestive
neurotic disorderOpen Targets
0.00Suggestive
Crohn's diseaseOpen Targets
0.00Suggestive
iron poisoningOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
lymphomaOpen 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
ZNF446Protein interaction80%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
84%
Heart
75%
Lung
66%
Brain
63%
Liver
55%
Gene Interaction Network
Click a node to explore
ZSCAN9ZNF446
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O15535
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.14LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.54–1.14]
RankingsWhere ZSCAN9 stands among ~20K protein-coding genes
  • #14,343of 20,598
    Most Researched20
  • #11,784of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedZSCAN9
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Transcriptome-wide association study identifies key genes in Graves' ophthalmopathy.
PMID: 41338297
Exp Eye Res · 2026
1.00
2
The Effect of Genetic Variation on the Placental Transcriptome in Humans.
PMID: 31244887
Front Genet · 2019
0.75
3
Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation.
PMID: 30218040
Nat Commun · 2018
0.50
4
Three genes encoding zinc finger proteins on human chromosome 6p21.3: members of a new subclass of the Kruppel gene family containing the conserved SCAN box domain.
PMID: 9244436
Genomics · 1997
0.25