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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DPPA4
developmental pluripotency associated 4
Chromosome 3 · 3q13.13
NCBI Gene: 55211Ensembl: ENSG00000121570.14HGNC: HGNC:19200UniProt: Q7L190
44PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingchromatin bindingsystem developmentnucleuslagophthalmosplacental retentionAbnormality of the skeletal systemadolescent idiopathic scoliosis
✦AI Summary

DPPA4 (developmental pluripotency associated 4) is a chr3-binding protein essential for maintaining pluripotency and regulating developmental competency. In pluripotent stem cells, DPPA4 functions as a chr3 modifier that primes and maintains bivalent chr3 domains by regulating H3K4me3 and H3K27me3 histone marks at the transitional boundary between pluripotency and differentiation 1. DPPA4 localizes to both the nucleus, where it associates with active chr3, and the cytosol, where it forms dynamic foci and interacts with proteins involved in mRNA processing and nucleocytoplasmic transport 2. The gene is highly and selectively expressed in pluripotent stem cells and germ cells but becomes downregulated during differentiation and germ line commitment 3. Clinically, DPPA4 overexpression promotes tumor aggressiveness by enhancing cell stemness through WNT/β-catenin signaling in pituitary neuroendocrine tumors 4. DPPA4 variants have been associated with acute radiation-induced toxicity across multiple cancer types, potentially relating to stem cell-mediated tissue repair mechanisms 5. Mutations in DPPA4 are implicated in early embryonic arrest, disrupting embryonic genome activation 6. Additionally, prenatal alcohol exposure decreases DPPA4 DNA methylation, linking this gene to developmental disorders and fetal alcohol spectrum disorder pathogenesis 7.

Sources cited
1
DPPA4 regulates H3K4me3 and H3K27me3 at bivalent chromatin domains and acts at the boundary between pluripotency and differentiation
PMID: 34767751
2
DPPA4 localizes to nucleus and cytosol, shuttles between compartments, and interacts with proteins in mRNA processing and nucleocytoplasmic transport
PMID: 36007377
3
DPPA4 is a SAP domain protein expressed in pluripotent stem cells and germ cells, downregulated during differentiation and germ line commitment
PMID: 16990585
4
DPPA4 is a key gene involved in embryonic genome activation and early embryonic arrest
PMID: 39325344
5
DPPA4 overexpression increases pituitary neuroendocrine tumor aggressiveness by enhancing stemness via WNT/β-catenin signaling
PMID: 39093695
6
DPPA4 variants are associated with acute radiation-induced toxicity across cancer types, potentially through stem cell-mediated tissue repair
PMID: 37862240
7
Prenatal alcohol exposure decreases DPPA4 DNA methylation in placenta and differentiated embryonic cells, linking it to developmental disorders
PMID: 36581877
Disease Associationsⓘ20
lagophthalmosOpen Targets
0.29Weak
placental retentionOpen Targets
0.26Weak
Abnormality of the skeletal systemOpen Targets
0.26Weak
adolescent idiopathic scoliosisOpen Targets
0.19Weak
joint diseaseOpen Targets
0.18Weak
cholelithiasisOpen Targets
0.17Weak
retinopathyOpen Targets
0.17Weak
strokeOpen Targets
0.17Weak
osteonecrosisOpen Targets
0.17Weak
occlusion precerebral arteryOpen Targets
0.17Weak
anemia (phenotype)Open Targets
0.16Weak
retinoschisisOpen Targets
0.16Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
atrial fibrillationOpen Targets
0.04Suggestive
thoracic dysostosis, isolatedOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SOX2Protein interaction100%LIN28AProtein interaction98%L1TD1Protein interaction89%POU5F1Protein interaction86%GDF3Protein interaction86%NANOGProtein interaction86%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
5%
Brain
2%
Lung
2%
Ovary
2%
Heart
0%
Gene Interaction Network
Click a node to explore
DPPA4SOX2LIN28AL1TD1POU5F1GDF3NANOG
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7L190
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.44–0.90]
RankingsWhere DPPA4 stands among ~20K protein-coding genes
  • #9,584of 20,598
    Most Researched44
  • #8,145of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedDPPA4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DPPA2, DPPA4, and other DPPA factor epigenomic functions in cell fate and cancer.
PMID: 34767751
Stem Cell Reports · 2021
1.00
2
Dynamic cytosolic foci of DPPA4 in human pluripotent stem cells.
PMID: 36007377
Tissue Cell · 2022
0.90
3
Dppa2 and Dppa4 are closely linked SAP motif genes restricted to pluripotent cells and the germ line.
PMID: 16990585
Stem Cells · 2007
0.80
4
Unraveling the mysteries of early embryonic arrest: genetic factors and molecular mechanisms.
PMID: 39325344
J Assist Reprod Genet · 2024
0.70
5
Developmental pluripotency-associated 4 increases aggressiveness of pituitary neuroendocrine tumors by enhancing cell stemness.
PMID: 39093695
Neuro Oncol · 2025
0.60