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DPPA4 Gene(Protein Coding)

Developmental Pluripotency Associated 4

GCID:
GC03M109326
GIFtS:
46
Genes Participants
UDN Logo

Aliases for DPPA4 Gene

Aliases for DPPA4 Gene

  • Developmental Pluripotency Associated 4 2 3 5
  • Developmental Pluripotency-Associated Protein 4 3
  • 2410091M23Rik 3

External Ids for DPPA4 Gene

Previous GeneCards Identifiers for DPPA4 Gene

  • GC00U909445
  • GC03M110365
  • GC03M110527
  • GC03M109045
  • GC03M106419

Summaries for DPPA4 Gene

Entrez Gene Summary for DPPA4 Gene

  • This gene encodes a nuclear factor that is involved in the maintenance of pluripotency in stem cells and essential for embryogenesis. The encoded protein has a scaffold-attachment factor A/B, acinus and PIAS (SAP) domain that binds DNA and is thought to modify chromatin. Mice with a homozygous knockout of the orthologous gene die during late embryonic development or within hours after birth. Knockout embryos are normal in size at embryonic day 18.5 but exhibit skeletal and lung tissue abnormalities. This gene, when mutated, is highly expressed in embryonal carcinomas, pluripotent germ cell tumors, and other cancers and is thought to play an important role in tumor progression. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

GeneCards Summary for DPPA4 Gene

DPPA4 (Developmental Pluripotency Associated 4) is a Protein Coding gene. Among its related pathways are Developmental Biology and Transcriptional regulation of pluripotent stem cells. An important paralog of this gene is DPPA2.

UniProtKB/Swiss-Prot for DPPA4 Gene

  • May be involved in the maintenance of active epigenetic status of target genes. May inhibit differentiation of embryonic cells into a primitive ectoderm lineage.

Additional gene information for DPPA4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPPA4 Gene

Genomics for DPPA4 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for DPPA4 Gene

Promoters and enhancers for DPPA4 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
GH03I109332 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 559.2 +1.3 1275 7.9 PAF1 RXRA TAF1 SIN3A REST RAD21 YY1 ETS1 SP1 JUND DPPA4 PIR39830
GH03I109353 Enhancer 0.8 ENCODE dbSUPER 5.1 -18.5 -18461 4.1 RXRA MAX SIN3A NR2F2 YY1 ETS1 POLR2A POU5F1 HNF4A MORC1-AS1 DPPA4 ENSG00000241257
GH03I109325 Enhancer 0.3 ENCODE 7.4 +12.0 11963 0.9 POLR2A DPPA4 PIR39830 DPPA2
GH03I109346 Enhancer 0.2 dbSUPER 0.4 -9.0 -8981 0.6 MORC1-AS1 DPPA4 ENSG00000241257
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DPPA4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DPPA4 gene promoter:

Genomic Locations for DPPA4 Gene

Genomic Locations for DPPA4 Gene
chr3:109,326,141-109,337,572
(GRCh38/hg38)
Size:
11,432 bases
Orientation:
Minus strand
chr3:109,044,988-109,056,419
(GRCh37/hg19)

Genomic View for DPPA4 Gene

Genes around DPPA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPPA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPPA4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DPPA4 Gene

Proteins for DPPA4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for DPPA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L190-DPPA4_HUMAN
    Recommended name:
    Developmental pluripotency-associated protein 4
    Protein Accession:
    Q7L190
    Secondary Accessions:
    • A8K4M7
    • Q9H9N5
    • Q9NVI6

    Protein attributes for DPPA4 Gene

    Size:
    304 amino acids
    Molecular mass:
    33541 Da
    Quaternary structure:
    • Interacts with DPPA2 (By similarity). Interacts with PCGF1 (PubMed:26687479).
    SequenceCaution:
    • Sequence=BAA91765.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14188.1; Type=Frameshift; Positions=148; Evidence={ECO:0000305};

neXtProt entry for DPPA4 Gene

Protein Expression for DPPA4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DPPA4 Gene

No Post-translational modifications

Other Protein References for DPPA4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DPPA4 Gene

Domains & Families for DPPA4 Gene

Gene Families for DPPA4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DPPA4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DPPA4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DPPA4: view

No data available for UniProtKB/Swiss-Prot for DPPA4 Gene

Function for DPPA4 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for DPPA4 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the maintenance of active epigenetic status of target genes. May inhibit differentiation of embryonic cells into a primitive ectoderm lineage.

Phenotypes From GWAS Catalog for DPPA4 Gene

Gene Ontology (GO) - Molecular Function for DPPA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16169070
genes like me logo Genes that share ontologies with DPPA4: view
genes like me logo Genes that share phenotypes with DPPA4: view

Animal Models for DPPA4 Gene

MGI Knock Outs for DPPA4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DPPA4 Gene

Localization for DPPA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPPA4 Gene

Nucleus. Note=Associated with transcriptionally active chromatin. {ECO:0000250 UniProtKB:Q8CCG4}.

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 DPPA4 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DPPA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with DPPA4: view

Pathways & Interactions for DPPA4 Gene

genes like me logo Genes that share pathways with DPPA4: view

Gene Ontology (GO) - Biological Process for DPPA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0035019 somatic stem cell population maintenance TAS --
genes like me logo Genes that share ontologies with DPPA4: view

No data available for SIGNOR curated interactions for DPPA4 Gene

Drugs & Compounds for DPPA4 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for DPPA4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DPPA4 Gene

(4) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(87) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DPPA4 Gene

Developmental pluripotency associated 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DPPA4 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for DPPA4 Gene

GeneLoc Exon Structure for
DPPA4
ECgene alternative splicing isoforms for
DPPA4

Expression for DPPA4 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DPPA4 Gene

mRNA expression in normal human tissues for DPPA4 Gene
mRNA expression by GTEx for DPPA4 GenemRNA expression by BioGPS for DPPA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DPPA4 Gene

This gene is overexpressed in Testis (x21.1) and Pituitary (x7.6).

Protein differential expression in normal tissues from HIPED for DPPA4 Gene

This gene is overexpressed in Lung (41.4) and Blymphocyte (27.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DPPA4 Gene



Protein tissue co-expression partners for DPPA4 Gene

NURSA nuclear receptor signaling pathways regulating expression of DPPA4 Gene:

DPPA4

SOURCE GeneReport for Unigene cluster for DPPA4 Gene:

Hs.317659
genes like me logo Genes that share expression patterns with DPPA4: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DPPA4 Gene

Orthologs for DPPA4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DPPA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia DPPA4 33 34
  • 99.09 (n)
mouse
(Mus musculus)
 Mammalia Dppa4 33 16 34
  • 65.49 (n)
Gm5501 34
  • 49 (a)
 OneToMany
rat
(Rattus norvegicus)
 Mammalia LOC685378 33
  • 65.38 (n)
dog
(Canis familiaris)
 Mammalia -- 34
  • 65 (a)
 OneToMany
-- 34
  • 61 (a)
 OneToMany
-- 34
  • 60 (a)
 OneToMany
-- 34
  • 56 (a)
 OneToMany
-- 34
  • 55 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia -- 34
  • 53 (a)
 OneToMany
-- 34
  • 50 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 35 (a)
 OneToMany
Species where no ortholog for DPPA4 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 DPPA4 Gene

ENSEMBL:
Gene Tree for DPPA4 (if available)
TreeFam:
Gene Tree for DPPA4 (if available)

Paralogs for DPPA4 Gene

Paralogs for DPPA4 Gene

(1) SIMAP similar genes for DPPA4 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for DPPA4 Gene

genes like me logo Genes that share paralogs with DPPA4: view

Variants for DPPA4 Gene

Sequence variations from dbSNP and Humsavar for DPPA4 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs193920923 uncertain-significance, Malignant tumor of prostate 109,327,996(-) A/G coding_sequence_variant, missense_variant
rs1000008328 -- 109,337,546(-) T/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000061277 -- 109,334,647(-) G/A intron_variant
rs1000439897 -- 109,328,880(-) A/G intron_variant
rs1001133949 -- 109,326,923(-) T/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for DPPA4 Gene

Variant ID Type Subtype PubMed ID
esv2421541 CNV deletion 20811451
esv2725758 CNV deletion 23290073
esv2725759 CNV deletion 23290073
esv2725760 CNV deletion 23290073
nsv1002080 CNV loss 25217958
nsv829665 CNV gain 17160897

Variation tolerance for DPPA4 Gene

Residual Variation Intolerance Score: 56.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.41; 42.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DPPA4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPPA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPPA4 Gene

Disorders for DPPA4 Gene

Additional Disease Information for DPPA4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for DPPA4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DPPA4 Gene

Publications for DPPA4 Gene

  1. The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis. (PMID: 26687479) Oliviero G … Cagney G (Scientific reports 2015) 3 4 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for DPPA4 Gene

Sources for DPPA4 Gene

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