HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZSCAN4
zinc finger and SCAN domain containing 4
Chromosome 19 · 19q13.43
NCBI Gene: 201516Ensembl: ENSG00000180532.12HGNC: HGNC:23709UniProt: Q8NAM6
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsequence-specific double-stranded DNA bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificneurodegenerative diseaseschizophrenianeoplasmhead and neck squamous cell carcinoma
✦AI Summary

ZSCAN4 is a zinc finger transcription factor critical for regulating embryonic stem cell pluripotency and early embryonic development 1. As an embryonic genome activation marker, ZSCAN4 is transiently expressed in two-cell and eight-cell embryos, where it acts downstream of the DUX/DUX4 transcription factor to activate cleavage-stage genes 23. Mechanistically, ZSCAN4 binds the TGCACAC motif within CA/TG microsatellites genome-wide 4 and promotes chr19 accessibility by recruiting the E3 ligase Trim25 to mediate degradation of repressive chr19 complexes including Kap1, Lsd1, Hdac1, and Suv39h1/2 5. A primary function is regulating telomere maintenance: ZSCAN4 activates telomere sister chr19 exchange and telomere elongation in ES cells through a pathway involving Dcaf11-mediated removal of H3K9me3 at telomeric regions 6. ZSCAN4 maintains telomere length in telomerase-deficient ES cells and human ALT cancer cells independently of telomerase 7. Clinically, ZSCAN4 enhances reprogramming efficiency and quality of induced pluripotent stem cells when included in reprogramming factor combinations, potentially serving as a cancer stem cell marker 1.

Sources cited
1
ZSCAN4 is a transcription factor expressed during zygotic genome activation and plays pivotal roles in embryonic development, stem cells, and cancer
PMID: 35739386
2
DUX/DUX4 activates ZSCAN4 and other cleavage-stage genes and retroviral elements defining the 2C transcriptional program
PMID: 28459457
3
ZSCAN4 is expressed as a ZGA marker in human 8-cell-like cells
PMID: 35216671
4
ZSCAN4 binds the TGCACAC motif in CA/TG microsatellites genome-wide and enhances chromatin suppression
PMID: 38153767
5
ZSCAN4 mediates ubiquitination and degradation of chromatin repressors (Kap1, Lsd1, Hdac1, Suv39h1/2) via Trim25 E3 ligase to promote chromatin accessibility
PMID: 39705314
6
Dcaf11 activates ZSCAN4 to promote telomere lengthening and T-SCE through removal of H3K9me3 at telomeric regions
PMID: 33357405
7
ZSCAN4 maintains telomere length in telomerase-deficient ES cells and ALT cancer cells
PMID: 35159266
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.26Weak
schizophreniaOpen Targets
0.10Weak
neoplasmOpen Targets
0.06Suggestive
head and neck squamous cell carcinomaOpen Targets
0.06Suggestive
cancerOpen Targets
0.05Suggestive
renal pelvis/ureter urothelial carcinomaOpen Targets
0.04Suggestive
ulcerative colitisOpen Targets
0.03Suggestive
facioscapulohumeral muscular dystrophyOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
urothelial carcinomaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
trisomy 18Open Targets
0.01Suggestive
small cell lung carcinomaOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
autoimmune pancreatitisOpen Targets
0.00Suggestive
Facioscapulohumeral dystrophyOpen Targets
0.00Suggestive
head and neck malignant neoplasiaOpen Targets
0.00Suggestive
human herpesvirus 8 infectionOpen Targets
0.00Suggestive
leukemiaOpen Targets
0.00Suggestive
squamous cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MBD3L2Protein interaction78%TRIM43Protein interaction78%DUX4Protein interaction78%ZBTB48Shared pathway50%CTC1Shared pathway20%STN1Shared pathway17%
Tissue Expression6 tissues
Heart
100%
Lung
60%
Ovary
35%
Brain
10%
Bone Marrow
10%
Liver
10%
Gene Interaction Network
Click a node to explore
ZSCAN4MBD3L2TRIM43DUX4ZBTB48CTC1STN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NAM6
View on AlphaFold ↗
RankingsWhere ZSCAN4 stands among ~20K protein-coding genes
  • #14,091of 20,598
    Most Researched21
Genes detectedZSCAN4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DUX-miR-344-ZMYM2-Mediated Activation of MERVL LTRs Induces a Totipotent 2C-like State.
PMID: 32032525
Cell Stem Cell · 2020
1.00
2
Dcaf11 activates Zscan4-mediated alternative telomere lengthening in early embryos and embryonic stem cells.
PMID: 33357405
Cell Stem Cell · 2021
0.90
3
8C-like cells capture the human zygotic genome activation program in vitro.
PMID: 35216671
Cell Stem Cell · 2022
0.80
4
Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL/HERVL retrotransposons.
PMID: 28459457
Nat Genet · 2017
0.70
5
Zscan4 Contributes to Telomere Maintenance in Telomerase-Deficient Late Generation Mouse ESCs and Human ALT Cancer Cells.
PMID: 35159266
Cells · 2022
0.60