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	21873635
GO:0005634	Component	Nucleus	IDA	21421998
GO:0005737	Component	Cytoplasm	IDA	21421998
GO:0006325	Process	Chromatin organization	IEA
GO:0035064	Function	Methylated histone binding	IBA	21873635
GO:0035064	Function	Methylated histone binding	ISS
GO:0044726	Process	Protection of DNA demethylation of female pronucleus	IBA	21873635
GO:0044726	Process	Protection of DNA demethylation of female pronucleus	ISS
GO:1901536	Process	Negative regulation of DNA demethylation	IBA	21873635
GO:1901536	Process	Negative regulation of DNA demethylation	ISS
GO:2000653	Process	Regulation of genetic imprinting	IBA	21873635
GO:2000653	Process	Regulation of genetic imprinting	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

Causal
Disease term	Disease name	dbSNP ID	References
Neoplasm	Neoplasms, Germ Cell and Embryonal, Neoplasms, Embryonal and Mixed	rs137854562, rs137854565, rs137854568, rs137854574, rs121434220, rs121909218, rs121909222, rs587776667, rs606231169, rs587776701, rs121913388, rs137852578, rs137852216, rs121912651, rs28934575, rs28934571, rs121912654, rs11540652, rs28934573, rs28934576, rs28934578, rs121912667, rs104893810, rs121913530, rs121913301, rs79184941, rs121908595, rs11554290, rs121434596, rs121913364, rs121434592, rs121913502, rs11554273, rs121913495, rs121913479, rs121913412, rs121913407, rs80338964, rs377767360, rs387906650, rs121913272, rs63750393, rs587776935, rs121913250, rs121913237, rs397516436, rs121913343, rs397516439, rs397516981, rs121913240, rs121913529, rs121913428, rs121913465, rs397517199, rs397517201, rs45446594, rs45481400, rs80358042, rs146650273, rs63750087, rs398123117, rs201744589, rs587778833, rs587778867, rs587778850, rs587778825, rs587776783, rs587780070, rs587780071, rs587780073, rs587777476, rs587781255, rs587781288, rs587781392, rs587781558, rs80358870, rs587781694, rs587781807, rs587782018, rs587782206, rs121913344, rs587782529, rs587782664, rs587782682, rs587782705, rs121913500, rs121913291, rs587783697, rs587783690, rs587783502, rs193920774, rs724159946, rs730880472, rs564652222, rs730882029, rs730882005, rs730882025, rs730882019, rs869025192, rs768922431, rs786203485, rs786202918, rs398123329, rs786201059, rs121912657, rs786201090, rs786204910, rs786204853, rs121913293, rs121913332, rs797044942, rs121913333, rs863224491, rs863224451, rs863224499, rs760043106, rs863225332, rs864622636, rs864622451, rs779707422, rs879255270, rs875989848, rs876661244, rs876660754, rs746235533, rs876659384, rs587778720, rs483352697, rs876658694, rs121913331, rs55863639, rs786203650, rs879254171, rs80359365, rs886040960, rs886042002, rs886041779, rs1057516620, rs1057517302, rs1057517544, rs1057517992, rs1057518134, rs985033810, rs1057517840, rs587777613, rs147001633, rs377577594, rs121913499, rs121909224, rs1057519724, rs1057519729, rs1057519742, rs121913294, rs121913538, rs121913287, rs121913284, rs74535574, rs1057519757, rs397516790, rs121913285, rs121913387, rs121913236, rs1057519893, rs1057519906, rs1057519929, rs772110575, rs1057519941, rs786202962, rs764146326, rs1057519989, rs121912656, rs1057519992, rs866775781, rs1057519996, rs765848205, rs138729528, rs786201057, rs864622237, rs1057520672, rs1060500766, rs587781702, rs866380588, rs11540654, rs770776262, rs1057519984, rs121913321, rs1064793022, rs1064794276, rs112431538, rs1064794311, rs1064794618, rs1064796632, rs750318549, rs1554897889, rs1554900675, rs1114167568, rs587783031, rs1114167621, rs1114167629, rs1114167657, rs1131690863, rs11575996, rs1131691039, rs1131691026, rs1131690921, rs1131691082, rs863225313, rs1554085846, rs1553647989, rs1554898074, rs764735889, rs553257776, rs1554898067, rs1555615472, rs1060500352, rs1555526131, rs1057519990, rs1270783041, rs1019340046, rs1057523347, rs1553332772, rs1555525429, rs1060500345, rs1554730670, rs1555526469, rs11575997, rs1554069710, rs1555610903, rs1565400045, rs1565486028, rs1569061768, rs1114167577, rs1561588104, rs751448371, rs1564568473, rs1567556930, rs1567555934, rs1559587104, rs1569293373, rs1568498107, rs141798398, rs1597359215, rs757274881, rs1567556123, rs1555525367, rs1202793339, rs1568504941, rs1587330312, rs1060501207, rs1589596415, rs1595314951, rs1598173737, rs1597375294, rs1567555445, rs1595331264, rs1593060859, rs1859977029, rs1217977493, rs1961431691, rs2073243450, rs1724674149, rs1820531050	16168501

Unknown
Disease term	Disease name	Evidence	References	Source
Borderline personality disorder	Borderline personality disorder			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Lesch Nyhan Syndrome	Associate	40710358
Testicular Germ Cell Tumor	Associate	27803193, 37508506