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 humans, related intronless loci are located on chromosomes 14 and X. [provided by RefSeq, Jul 2008] See more...

Aliases for DPPA3 Gene

Aliases for DPPA3 Gene

  • Developmental Pluripotency Associated 3 2 3 5
  • Developmental Pluripotency-Associated Protein 3 3 4
  • Stella-Related Protein 3 4
  • STELLAR 4
  • STELLA 3
  • Pgc7 3

External Ids for DPPA3 Gene

Previous GeneCards Identifiers for DPPA3 Gene

  • GC00U909444
  • GC12U900415
  • GC12P007757
  • GC12P007864
  • GC12P007678
  • GC12P007714
  • GC12P007745

Summaries for DPPA3 Gene

Entrez Gene Summary for DPPA3 Gene

  • 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 humans, related intronless loci are located on chromosomes 14 and X. [provided by RefSeq, Jul 2008]

GeneCards Summary for DPPA3 Gene

DPPA3 (Developmental Pluripotency Associated 3) is a Protein Coding gene. Diseases associated with DPPA3 include Neuroretinitis and Indolent Systemic Mastocytosis. Among its related pathways are Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include methylated histone binding.

UniProtKB/Swiss-Prot Summary for DPPA3 Gene

  • Primordial germ cell (PGCs)-specific protein involved in epigenetic chromatin reprogramming in the zygote following fertilization. In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in protection of DNA methylation in the maternal pronucleus by preventing conversion of 5mC to 5hmC: specifically recognizes and binds histone H3 dimethylated at 'Lys-9' (H3K9me2) on maternal genome, and protects maternal genome from TET3-mediated conversion to 5hmC and subsequent DNA demethylation. Does not bind paternal chromatin, which is mainly packed into protamine and does not contain much H3K9me2 mark. Also protects imprinted loci that are marked with H3K9me2 in mature sperm from DNA demethylation in early embryogenesis. May be important for the totipotent/pluripotent states continuing through preimplantation development. Also involved in chromatin condensation in oocytogenesis (By similarity).

Gene Wiki entry for DPPA3 Gene

Additional gene information for DPPA3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DPPA3 Gene

Genomics for DPPA3 Gene

GeneHancer (GH) Regulatory Elements for DPPA3 Gene

Promoters and enhancers for DPPA3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J007712 Enhancer 0.4 FANTOM5 508.1 +1.6 1569 0.2 E2F6 L3MBTL2 DPPA3 NANOG C1RL-AS1 SLC2A3 lnc-CLEC4C-1
GH12J007710 Enhancer 0.3 Ensembl 500.7 -0.9 -932 0.6 E4F1 EZH2 DPPA3 piR-57460-109
GH12J007711 Promoter 0.3 EPDnew 500.7 0.0 -19 0.1 DPPA3 piR-57460-109
GH12J007993 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +283.8 283752 3 ZBTB40 EP300 CTCF SP1 JUND FOS RFX1 REST CUX1 CTBP1 RPS20P28 lnc-SLC2A3-3 FOXJ2 DPPA3 HSPD1P12 RIMKLB lnc-C3AR1-1
GH12J007786 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE dbSUPER 11.2 +77.9 77940 4.9 NFIL3 SP1 NANOG DPPA3 GDF3 SLC2A3 ENSG00000199912
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DPPA3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DPPA3

Top Transcription factor binding sites by QIAGEN in the DPPA3 gene promoter:
  • CUTL1
  • LUN-1
  • LyF-1
  • Nkx2-5
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for DPPA3 Gene

Genomic Locations for DPPA3 Gene
chr12:7,711,433-7,717,559
(GRCh38/hg38)
Size:
6,127 bases
Orientation:
Plus strand
chr12:7,864,050-7,870,155
(GRCh37/hg19)
Size:
6,106 bases
Orientation:
Plus strand

Genomic View for DPPA3 Gene

Genes around DPPA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPPA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPPA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPPA3 Gene

Proteins for DPPA3 Gene

  • Protein details for DPPA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6W0C5-DPPA3_HUMAN
    Recommended name:
    Developmental pluripotency-associated protein 3
    Protein Accession:
    Q6W0C5
    Secondary Accessions:
    • Q0P5U3
    • Q6JZS6

    Protein attributes for DPPA3 Gene

    Size:
    159 amino acids
    Molecular mass:
    17851 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DPPA3 Gene

Post-translational modifications for DPPA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DPPA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DPPA3 Gene

Domains & Families for DPPA3 Gene

Gene Families for DPPA3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DPPA3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DPPA3 Gene

GenScript: Design optimal peptide antigens:
  • Stella-related protein (DPPA3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6W0C5

UniProtKB/Swiss-Prot:

DPPA3_HUMAN :
  • Mediates binding to H3K9me2 via N-terminal region, while ability to exclude TET3 from the maternal pronucleus requires the C-terminal part.
Domain:
  • Mediates binding to H3K9me2 via N-terminal region, while ability to exclude TET3 from the maternal pronucleus requires the C-terminal part.
genes like me logo Genes that share domains with DPPA3: view

Function for DPPA3 Gene

Molecular function for DPPA3 Gene

UniProtKB/Swiss-Prot Function:
Primordial germ cell (PGCs)-specific protein involved in epigenetic chromatin reprogramming in the zygote following fertilization. In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in protection of DNA methylation in the maternal pronucleus by preventing conversion of 5mC to 5hmC: specifically recognizes and binds histone H3 dimethylated at 'Lys-9' (H3K9me2) on maternal genome, and protects maternal genome from TET3-mediated conversion to 5hmC and subsequent DNA demethylation. Does not bind paternal chromatin, which is mainly packed into protamine and does not contain much H3K9me2 mark. Also protects imprinted loci that are marked with H3K9me2 in mature sperm from DNA demethylation in early embryogenesis. May be important for the totipotent/pluripotent states continuing through preimplantation development. Also involved in chromatin condensation in oocytogenesis (By similarity).

Phenotypes From GWAS Catalog for DPPA3 Gene

Gene Ontology (GO) - Molecular Function for DPPA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035064 methylated histone binding IBA,ISS --
genes like me logo Genes that share ontologies with DPPA3: view
genes like me logo Genes that share phenotypes with DPPA3: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DPPA3 Gene

Localization for DPPA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPPA3 Gene

Nucleus. Cytoplasm. Note=Mainly localizes in the female pronucleus, localization to the male pronucleus in much weaker. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DPPA3 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for DPPA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001939 female pronucleus ISS --
GO:0001940 NOT male pronucleus ISS --
GO:0005634 nucleus IBA,IDA 21421998
GO:0005737 cytoplasm IEA,IDA 21421998
genes like me logo Genes that share ontologies with DPPA3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DPPA3 Gene

Pathways & Interactions for DPPA3 Gene

PathCards logo

SuperPathways for DPPA3 Gene

SuperPathway Contained pathways
1 Preimplantation Embryo
genes like me logo Genes that share pathways with DPPA3: view

Pathways by source for DPPA3 Gene

1 BioSystems pathway for DPPA3 Gene

Interacting Proteins for DPPA3 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000339250 Q6W0C5-DPPA3_HUMAN for DPPA3 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for DPPA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0007275 multicellular organism development IEA --
GO:0044726 protection of DNA demethylation of female pronucleus ISS,IBA --
GO:1901536 negative regulation of DNA demethylation IBA,ISS --
GO:2000653 regulation of genetic imprinting IBA,ISS --
genes like me logo Genes that share ontologies with DPPA3: view

No data available for SIGNOR curated interactions for DPPA3 Gene

Drugs & Compounds for DPPA3 Gene

No Compound Related Data Available

Transcripts for DPPA3 Gene

mRNA/cDNA for DPPA3 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DPPA3 Gene

No ASD Table

Relevant External Links for DPPA3 Gene

GeneLoc Exon Structure for
DPPA3

Expression for DPPA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DPPA3 Gene

mRNA differential expression in normal tissues according to GTEx for DPPA3 Gene

This gene is overexpressed in Testis (x26.0), Ovary (x21.8), and Whole Blood (x4.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DPPA3

SOURCE GeneReport for Unigene cluster for DPPA3 Gene:

Hs.131358

mRNA Expression by UniProt/SwissProt for DPPA3 Gene:

Q6W0C5-DPPA3_HUMAN
Tissue specificity: Low expression in testis, ovary and thymus. Expressed in embryonic stem and carcinoma cells. Highly expressed in testicular germ cell tumors.
genes like me logo Genes that share expression patterns with DPPA3: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DPPA3 Gene

Orthologs for DPPA3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DPPA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DPPA3 31 30
  • 99.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dppa3 31
  • 35 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DPPA3 31
  • 29 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DPPA3 31
  • 24 (a)
OneToOne
Species where no ortholog for DPPA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for DPPA3 Gene

ENSEMBL:
Gene Tree for DPPA3 (if available)
TreeFam:
Gene Tree for DPPA3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DPPA3: view image

Paralogs for DPPA3 Gene

No data available for Paralogs for DPPA3 Gene

Variants for DPPA3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DPPA3 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs2024320 - p.Glu51Gln

Additional dbSNP identifiers (rs#s) for DPPA3 Gene

Structural Variations from Database of Genomic Variants (DGV) for DPPA3 Gene

Variant ID Type Subtype PubMed ID
dgv57e55 CNV gain 17911159
dgv5e196 CNV duplication 17116639
dgv6e196 CNV duplication 17116639
esv2422393 CNV duplication 17116639
esv2759877 CNV gain+loss 17122850
esv3580438 CNV gain 25503493
nsv428270 CNV gain 18775914
nsv557273 CNV loss 21841781
nsv557274 CNV gain 21841781
nsv973011 CNV duplication 23825009

Variation tolerance for DPPA3 Gene

Residual Variation Intolerance Score: 61.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.17; 23.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DPPA3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPPA3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPPA3 Gene

Disorders for DPPA3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DPPA3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
neuroretinitis
  • focal retinitis and retinochoroiditis, juxtapapillary
indolent systemic mastocytosis
  • ism
infiltrating angiolipoma
  • angiolipoma, infiltrating
mast cell neoplasm
  • mast cell proliferative disease
kabuki syndrome 1
  • kms
- elite association - COSMIC cancer census association via MalaCards
Search DPPA3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DPPA3

genes like me logo Genes that share disorders with DPPA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DPPA3 Gene

Publications for DPPA3 Gene

  1. Dppa3 is a marker of pluripotency and has a human homologue that is expressed in germ cell tumours. (PMID: 14684992) Bowles J … Koopman P (Cytogenetic and genome research 2003) 2 3 4 54
  2. NANOS3 function in human germ cell development. (PMID: 21421998) Julaton VT … Reijo Pera RA (Human molecular genetics 2011) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Human STELLAR, NANOG, and GDF3 genes are expressed in pluripotent cells and map to chromosome 12p13, a hotspot for teratocarcinoma. (PMID: 14990856) Clark AT … Reijo Pera RA (Stem cells (Dayton, Ohio) 2004) 3 4 54
  5. Stella is a maternal effect gene required for normal early development in mice. (PMID: 14654002) Payer B … Surani MA (Current biology : CB 2003) 3 4 54

Products for DPPA3 Gene

Sources for DPPA3 Gene