DPPA3 (developmental pluripotency associated 3)

Gene

• Entrez ID: 359787
• Gene name: Developmental pluripotency associated 3
• Gene symbol: DPPA3
• Synonyms (NCBI Gene): Pgc7, STELLA
• Chromosome: 12
• Chromosome location: 12p13.31
• Summary: This gene encodes a protein that in mice may function as a maternal factor during the preimplantation stage of development. In mice, this gene may play a role in transcriptional repression, cell division, and maintenance of cell pluripotentiality. In huma

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT944364	hsa-miR-4732-5p	CLIP-seq
MIRT944365	hsa-miR-4762-5p	CLIP-seq
MIRT944366	hsa-miR-561	CLIP-seq
MIRT944367	hsa-miR-610	CLIP-seq
MIRT944368	hsa-miR-936	CLIP-seq
MIRT944365	hsa-miR-4762-5p	CLIP-seq
MIRT2214686	hsa-miR-488	CLIP-seq
MIRT2214687	hsa-miR-9	CLIP-seq
MIRT2679451	hsa-miR-1587	CLIP-seq
MIRT2679452	hsa-miR-4263	CLIP-seq
MIRT2679453	hsa-miR-4420	CLIP-seq
MIRT2679454	hsa-miR-4674	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001939	Component	Female pronucleus	ISS
GO:0001940	Component	Male pronucleus	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	21421998
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	21421998
GO:0005737	Component	Cytoplasm	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0044726	Process	Epigenetic programing of female pronucleus	IBA
GO:0044726	Process	Epigenetic programing of female pronucleus	ISS
GO:0062072	Function	Histone H3K9me2/3 reader activity	ISS

Other IDs

• MIM: 608408
• HGNC: 19199
• e!Ensembl: ENSG00000187569

Protein

• UniProt ID: Q6W0C5
• Protein name: Developmental pluripotency-associated protein 3 (Stella-related protein)
• Protein function: Primordial germ cell (PGCs)-specific protein involved in epigenetic chromatin reprogramming in the zygote following fertilization (PubMed:35314832). In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cel
• PDB: 8WMS, 8XV7, 8XV8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15549	PGC7_Stella	1 → 155	PGC7/Stella/Dppa3 domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Low expression in testis, ovary and thymus. Expressed in embryonic stem and carcinoma cells. Highly expressed in testicular germ cell tumors. {ECO:0000269|PubMed:14654002, ECO:0000269|PubMed:14684992, ECO:0000269|PubMed:14990856}.
• Sequence:

  MDPSQFNPTYIPGSPQMLTEENSRDDSGASQISSETLIKNLSNLTINASSESVSPLSEAL
  LRRESVGAAVLREIEDEWLYSRRGVRTLLSVQREKMARLRYMLLGGVRTHERRPTNKEPK
  GVKKESRPFKCPCSFCVSNGWDPSENARIGNQDTKPLQP

• Sequence length: 159

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Borderline Personality Disorder	Borderline personality disorder	GWASCAT_DG	28632202		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29185822, 29388470, 30393249, 30767112, 31347926		★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	CTD_human_DG	16168501		★☆☆☆☆ Found in Text Mining only
Erythema Multiforme	Erythema	BEFREE	28300676		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	CTD_human_DG	16168501		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	27803193		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14684992		★☆☆☆☆ Found in Text Mining only
Neoplasms, Embryonal and Mixed	Neoplasm	CTD_human_DG	16168501		★☆☆☆☆ Found in Text Mining only
Neoplasms, Germ Cell and Embryonal	Neoplasm	CTD_human_DG	16168501		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	27803193, 37508506	Associate	★☆☆☆☆ Found in Text Mining only