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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DPPA5
developmental pluripotency associated 5
Chromosome 6 · 6q13
NCBI Gene: 340168Ensembl: ENSG00000203909.4HGNC: HGNC:19201UniProt: A6NC42
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mRNA bindingregulation of gene expressioncytoplasmRNA bindingAganglionic megacolonHirschsprung diseaseAbnormal central motor functioninjury
✦AI Summary

DPPA5 (developmental pluripotency associated 5) is a cytoplasmic mRNA-binding protein that plays a crucial role in maintaining embryonic stem cell pluripotency and supporting cellular reprogramming. Mechanistically, DPPA5 enhances pluripotency by directly interacting with and stabilizing NANOG protein through post-transcriptional mechanisms 1, rather than affecting NANOG transcription. DPPA5 is specifically and highly expressed in pluripotent stem cells including human primordial germ cells, embryonic germ cells, and embryonic stem cells, with expression rapidly downregulated during differentiation 2. Epigenetically, DPPA5 promoter methylation is associated with stem cell differentiation and aberrant silencing in tumor cells; DNA methyltransferase inhibitors can reactivate DPPA5 expression 3. Clinically, DPPA5 serves as a reliable pluripotency marker 2 and has been identified as a hub gene associated with asthma severity in bioinformatics analyses 4. Additionally, DPPA5 expression increases in embryos exposed to stem cell-derived bioactive materials, correlating with enhanced developmental potential 5. These findings establish DPPA5 as an important regulator of pluripotency maintenance and a valuable biomarker for stem cell biology and disease pathology.

Sources cited
1
DPPA5 stabilizes NANOG protein via post-transcriptional mechanisms and enhances pluripotency and reprogramming efficiency
PMID: 26661329
2
DPPA5 is specifically expressed in pluripotent stem cells (PGCs, EGCs, ESCs) and serves as a pluripotency marker
PMID: 15790765
3
DPPA5 promoter methylation is associated with stem cell differentiation and can be reactivated by DNA methyltransferase inhibitors
PMID: 19221495
4
DPPA5 identified as a hub gene associated with asthma severity in bioinformatics analysis
PMID: 37743309
5
DPPA5 expression increases in embryos treated with stem cell-derived bioactive materials, correlating with developmental potential
PMID: 26053518
Disease Associationsⓘ20
Aganglionic megacolonOpen Targets
0.11Weak
Hirschsprung diseaseOpen Targets
0.11Weak
Abnormal central motor functionOpen Targets
0.09Suggestive
injuryOpen Targets
0.07Suggestive
benign neoplasm of eyeOpen Targets
0.04Suggestive
Down syndromeOpen Targets
0.04Suggestive
myopiaOpen Targets
0.03Suggestive
refractive errorOpen Targets
0.03Suggestive
HypermetropiaOpen Targets
0.03Suggestive
Progressive visual lossOpen Targets
0.03Suggestive
nephrotic syndromeOpen Targets
0.02Suggestive
primary angle closure glaucomaOpen Targets
0.02Suggestive
eye diseaseOpen Targets
0.02Suggestive
Abnormality of refractionOpen Targets
0.02Suggestive
hypertensionOpen Targets
0.02Suggestive
placenta praeviaOpen Targets
0.02Suggestive
AstigmatismOpen Targets
0.02Suggestive
seminomaOpen Targets
0.01Suggestive
embryonal carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PEG3Shared pathway100%TCF19Shared pathway100%ZNF711Shared pathway100%ZNF142Shared pathway100%ZNF239Shared pathway100%HNRNPDLShared pathway100%
Tissue Expression6 tissues
Heart
0%
Lung
0%
Brain
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
DPPA5PEG3TCF19ZNF711ZNF142ZNF239HNRNPDL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A6NC42
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.48LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.61–1.48]
RankingsWhere DPPA5 stands among ~20K protein-coding genes
  • #15,848of 20,598
    Most Researched14
  • #15,077of 17,882
    Most Constrained (LOEUF)1.48
Genes detectedDPPA5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DPPA5 Supports Pluripotency and Reprogramming by Regulating NANOG Turnover.
PMID: 26661329
Stem Cells · 2016
1.00
2
Gene birth, death, and divergence: the different scenarios of reproduction-related gene evolution.
PMID: 19129511
Biol Reprod · 2009
0.90
3
[Biomarkers associated with severity classification of asthma identified by comprehensive bioinformatics analysis].
PMID: 37743309
Zhonghua Yu Fang Yi Xue Za Zhi · 2023
0.80
4
Derivation of Porcine Embryonic Stem-Like Cells from In Vitro-Produced Blastocyst-Stage Embryos.
PMID: 27173828
Sci Rep · 2016
0.70
5
The role of promoter CpG methylation in the epigenetic control of stem cell related genes during differentiation.
PMID: 19221495
Cell Cycle · 2009
0.60