DPPA2 (developmental pluripotency associated 2)

Gene

• Entrez ID: 151871
• Gene name: Developmental pluripotency associated 2
• Gene symbol: DPPA2
• Synonyms (NCBI Gene): CT100, ECAT15-2, PESCRG1
• Chromosome: 3
• Chromosome location: 3q13.13

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT944356	hsa-miR-1208	CLIP-seq
MIRT944357	hsa-miR-1289	CLIP-seq
MIRT944358	hsa-miR-3198	CLIP-seq
MIRT944359	hsa-miR-412	CLIP-seq
MIRT944360	hsa-miR-4294	CLIP-seq
MIRT944361	hsa-miR-4309	CLIP-seq
MIRT944362	hsa-miR-4318	CLIP-seq
MIRT944363	hsa-miR-4420	CLIP-seq
MIRT1979625	hsa-miR-3164	CLIP-seq
MIRT1979626	hsa-miR-4506	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0048731	Process	System development	IBA

Other IDs

• MIM: 614445
• HGNC: 19197
• e!Ensembl: ENSG00000163530

Protein

• UniProt ID: Q7Z7J5
• Protein name: Developmental pluripotency-associated protein 2 (Pluripotent embryonic stem cell-related gene 1 protein)
• Protein function: Binds to target gene promoters, including NKX2-5 and SYCE1, but not GATA4, and may be involved in the maintenance of the active epigenetic status of these genes.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14049	Dppa2_A	131 → 215	Dppa2/4 conserved region in higher vertebrates	Family
  PF14047	DCR	220 → 286	Dppa2/4 conserved region	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in embryonic stem cells. No expression is seen in 5 months embryo, mesenchymal stem cells, embryonic fibrocytes and adult tissues. {ECO:0000269|PubMed:15583978}.
• Sequence:

  MSDANLDSSKKNFLEGEVDDEESVILTLVPVKDDANMEQMEPSVSSTSDVKLEKPKKYNP
  GHLLQTNEQFTAPQKARCKIPALPLPTILPPINKVCRDTLRDWCQQLGLSTNGKKIEVYL
  RLHRHAYPEQRQDMPEMSQETRLQRCSRKRKAVTKRARLQRSYEMNERAEETNTVEVITS
  APGAMLASWARIAARAVQPKALNSCSIPVSVEAFLMQASGVRWCVVHGRLLSADTKGWVR
  LQFHAGQAWVPTTHRRMISLFLLPACIFPSPGIEDNMLCPDCAKRNKKMMKRLMTVEK

• Sequence length: 298

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Premature ovarian failure	Likely pathogenic	rs1353278679	RCV001270194	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinogenesis	Carcinogenesis	Pubtator	24532429	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19705800	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24532429, 25497006		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24532429	Associate	★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	BEFREE	18467432		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18519755		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24532429	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26745102	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24532429, 30758381		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26745102, 34721660	Associate	★☆☆☆☆ Found in Text Mining only