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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ZSCAN21
zinc finger and SCAN domain containing 21
Chromosome 7 · 7q22.1
NCBI Gene: 7589Ensembl: ENSG00000166529.16HGNC: HGNC:13104UniProt: G3V0F4
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingregulation of DNA-templated transcriptionDNA-binding transcription activator activity, RNA polymerase II-specificpositive regulation of transcription by RNA polymerase IIcoronary artery diseaseParkinson diseaseAbnormality of the skeletal systemazoospermia
✦AI Summary

ZSCAN21 is a zinc finger transcription factor that serves as a key regulator of α-synuclein (SNCA) gene expression. The protein functions as a transcriptional activator that directly binds to regulatory sequences within SNCA intron 1, stimulating α-synuclein transcription in neuronal cells 12. Mechanistically, ZSCAN21 is regulated through a ubiquitin-proteasome pathway involving E3 ligases TRIM17 and TRIM41, where TRIM17 stabilizes ZSCAN21 by preventing its TRIM41-mediated degradation 3. In disease contexts, ZSCAN21 plays a pathogenic role in Parkinson's disease by mediating neurotoxin-induced α-synuclein upregulation, as demonstrated in MPTP mouse models and cellular studies where ZSCAN21 knockdown prevents both α-synuclein induction and dopaminergic neuronal death 4. The protein also exhibits counter-regulatory effects on synuclein expression, repressing α-synuclein while simultaneously increasing β-synuclein expression, which may reduce α-synuclein aggregation 5. Rare variants in ZSCAN21 have been identified in familial Parkinson's disease patients, with some variants resulting in protein stabilization 36. Additionally, ZSCAN21 functions as a reader of DNA modifications, particularly 5-formylcytosine, suggesting broader epigenetic regulatory roles 7.

Sources cited
1
ZSCAN21 binds to SNCA intron 1 and functions as a transcriptional activator of α-synuclein in neuronal cells
PMID: 19549071
2
ZSCAN21 occupies a region within SNCA intron 1 in human brain tissue
PMID: 26002080
3
TRIM17 and TRIM41 regulate ZSCAN21 through ubiquitin-mediated pathways, with rare variants found in PD patients
PMID: 30485814
4
ZSCAN21 mediates pathogenic α-synuclein induction in Parkinson's disease models and its knockdown prevents neuronal death
PMID: 40379611
5
ZSCAN21 counter-regulates synuclein expression by repressing α-synuclein and increasing β-synuclein
PMID: 24080388
6
ZSCAN21 variants identified as candidate genes for late onset Parkinson's disease
PMID: 34148545
7
ZSCAN21 functions as a reader of 5-formylcytosine DNA modifications
PMID: 34351703
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.07Suggestive
Parkinson diseaseOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
azoospermiaOpen Targets
0.05Suggestive
Female infertility due to fertilization defectOpen Targets
0.05Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.04Suggestive
oocyte maturation defect 14Open Targets
0.04Suggestive
oocyte maturation defect 5Open Targets
0.04Suggestive
Hydatidiform MoleOpen Targets
0.04Suggestive
X-linked retinal dysplasiaOpen Targets
0.04Suggestive
oocyte maturation defect 9Open Targets
0.04Suggestive
hyperpigmentation with or without hypopigmentation, familial progressiveOpen Targets
0.04Suggestive
premature ovarian failure 19Open Targets
0.04Suggestive
oocyte maturation defect 13Open Targets
0.04Suggestive
oocyte/zygote/embryo maturation arrest 21Open Targets
0.04Suggestive
oocyte maturation defect 12Open Targets
0.04Suggestive
spermatogenic failure 61Open Targets
0.04Suggestive
spermatogenic failure 62Open Targets
0.04Suggestive
spermatogenic failure 88Open Targets
0.04Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FOXJ3Shared pathway100%ZSCAN32Protein interaction83%ZNF446Protein interaction79%ZNF397Protein interaction79%NOX4Protein interaction77%ZSCAN23Protein interaction76%
Tissue Expression6 tissues
Liver
100%
Ovary
90%
Brain
89%
Bone Marrow
79%
Heart
67%
Lung
53%
Gene Interaction Network
Click a node to explore
ZSCAN21FOXJ3ZSCAN32ZNF446ZNF397NOX4ZSCAN23
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y5A6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.06LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.62–1.06]
RankingsWhere ZSCAN21 stands among ~20K protein-coding genes
  • #11,100of 20,598
    Most Researched35
  • #10,721of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedZSCAN21
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
PMID: 34148545
Mol Neurodegener · 2021
1.00
2
ZSCAN21 mediates the pathogenic transcriptional induction of α-synuclein in cellular and animal models of Parkinson's disease.
PMID: 40379611
Cell Death Dis · 2025
0.90
3
Counter-regulation of alpha- and beta-synuclein expression at the transcriptional level.
PMID: 24080388
Mol Cell Neurosci · 2013
0.80
4
Obesity impacts the expression of Alzheimer's disease-related genes: The Framingham Heart Study.
PMID: 36811231
Alzheimers Dement · 2023
0.70
5
Functional dissection of the alpha-synuclein promoter: transcriptional regulation by ZSCAN21 and ZNF219.
PMID: 19549071
J Neurochem · 2009
0.60