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DPPA2 developmental pluripotency associated 2 [ Homo sapiens (human) ]

Gene ID: 151871, updated on 5-Mar-2024

Summary

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Official Symbol
DPPA2provided by HGNC
Official Full Name
developmental pluripotency associated 2provided by HGNC
Primary source
HGNC:HGNC:19197
See related
Ensembl:ENSG00000163530 MIM:614445; AllianceGenome:HGNC:19197
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CT100; PESCRG1; ECAT15-2
Summary
Predicted to enable chromatin binding activity. Predicted to be involved in system development. Predicted to act upstream of or within several processes, including lung-associated mesenchyme development; positive regulation of stem cell proliferation; and regulation of histone methylation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 2.2) See more
Orthologs
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Genomic context

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See DPPA2 in Genome Data Viewer
Location:
3q13.13
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (109293788..109316517, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (112014076..112036840, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (109012635..109035364, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1236, pseudogene Neighboring gene BRD7 pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:109043097-109043597 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:109054673-109055281 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:109055282-109055890 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:109055891-109056498 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:109057717-109058324 Neighboring gene developmental pluripotency associated 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:109066679-109067180 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:109074429-109075164 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:109075165-109075898 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:109075899-109076634 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:109085761-109085928 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:109114646-109115452 Neighboring gene RLIG1 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. DPPA2 Protein Expression is Associated with Gastric Cancer Metastasis. Shabestarian H, et al. Asian Pac J Cancer Prev, 2015. PMID 26745102
  2. Diagnostic clinical relevance of developmental pluripotency-associated 2 (DPPA2) in colorectal cancer. Ghodsi M, et al. Int J Surg, 2015 Jan. PMID 25497006
  3. ECSA/DPPA2 is an embryo-cancer antigen that is coexpressed with cancer-testis antigens in non-small cell lung cancer. John T, et al. Clin Cancer Res, 2008 Jun 1. PMID 18519755
  4. Transcription Factor CTCFL Promotes Cell Proliferation, Migration, and Invasion in Gastric Cancer via Activating DPPA2. Yao H, et al. Comput Math Methods Med, 2021. PMID 34721660, Free PMC Article
  5. Aberrant expression of DPPA2 and HIWI genes in colorectal cancer and their impacts on poor prognosis. Raeisossadati R, et al. Tumour Biol, 2014 Jun. PMID 24532429

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Transcription Factor CTCFL Promotes Cell Proliferation, Migration, and Invasion in Gastric Cancer via Activating DPPA2.
    Title: Transcription Factor CTCFL Promotes Cell Proliferation, Migration, and Invasion in Gastric Cancer via Activating DPPA2.
  2. Dppa2/4 as a trigger of signaling pathways to promote zygote genome activation by binding to CG-rich region.
    Title: Dppa2/4 as a trigger of signaling pathways to promote zygote genome activation by binding to CG-rich region.
  3. SPOP suppresses testicular germ cell tumors progression through ubiquitination and degradation of DPPA2.
    Title: SPOP suppresses testicular germ cell tumors progression through ubiquitination and degradation of DPPA2.
  4. High DPPA2 Protein Expression is Associated with Gastric Cancer Metastasis
    Title: DPPA2 Protein Expression is Associated with Gastric Cancer Metastasis.
  5. results showed that DPPA2 expression was significantly correlated to the depth of tumor invasion and progression of tumor cells through advanced stages in colorectal cancer.
    Title: Diagnostic clinical relevance of developmental pluripotency-associated 2 (DPPA2) in colorectal cancer.
  6. Results identified a new family of pluripotency-related oncogenes consisting of DPPA2 and DPPA4.
    Title: Identification of DPPA4 and DPPA2 as a novel family of pluripotency-related oncogenes.
  7. A important role of HIWI and DPPA2 in tumorigenesis and also in lymph node metastasis of tumor cells.
    Title: Aberrant expression of DPPA2 and HIWI genes in colorectal cancer and their impacts on poor prognosis.
  8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  9. In normal tissues, PLAC1 expression was restricted to the placenta while DPPA2 expression was restricted to the placenta and testis.
    Title: Expression and serum immunoreactivity of developmentally restricted differentiation antigens in epithelial ovarian cancer.
  10. ECSA/DPPA2 is a promising target for antigen-specific immunotherapy in non-small cell lung cancers
    Title: ECSA/DPPA2 is an embryo-cancer antigen that is coexpressed with cancer-testis antigens in non-small cell lung cancer.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in system development IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
developmental pluripotency-associated protein 2
Names
cancer/testis antigen 100
embryonic stem cell (ESC) associated transcript 15-2
pluripotent embryonic stem cell-related gene 1 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_138815.4 → NP_620170.3  developmental pluripotency-associated protein 2

    See identical proteins and their annotated locations for NP_620170.3

    Status: VALIDATED

    Source sequence(s)
    AA460929, AY283672, BC018070
    Consensus CDS
    CCDS2956.1
    UniProtKB/Swiss-Prot
    Q7Z7J5, Q8WVF0
    Related
    ENSP00000417710.1, ENST00000478945.1
    Conserved Domains (3) summary
    smart00513
    Location:99 → 122
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    pfam14047
    Location:220 → 286
    DCR; Dppa2/4 conserved region
    pfam14049
    Location:133 → 215
    Dppa2_A; Dppa2/4 conserved region in higher vertebrates

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    109293788..109316517 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512444.4 → XP_011510746.1  developmental pluripotency-associated protein 2 isoform X2

    See identical proteins and their annotated locations for XP_011510746.1

    UniProtKB/Swiss-Prot
    Q7Z7J5, Q8WVF0
    Conserved Domains (3) summary
    smart00513
    Location:99 → 122
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    pfam14047
    Location:220 → 286
    DCR; Dppa2/4 conserved region
    pfam14049
    Location:133 → 215
    Dppa2_A; Dppa2/4 conserved region in higher vertebrates

  2. XM_011512445.3 → XP_011510747.1  developmental pluripotency-associated protein 2 isoform X2

    See identical proteins and their annotated locations for XP_011510747.1

    UniProtKB/Swiss-Prot
    Q7Z7J5, Q8WVF0
    Conserved Domains (3) summary
    smart00513
    Location:99 → 122
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    pfam14047
    Location:220 → 286
    DCR; Dppa2/4 conserved region
    pfam14049
    Location:133 → 215
    Dppa2_A; Dppa2/4 conserved region in higher vertebrates

  3. XM_011512443.2 → XP_011510745.1  developmental pluripotency-associated protein 2 isoform X1

    Conserved Domains (3) summary
    smart00513
    Location:108 → 131
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    pfam14047
    Location:229 → 295
    DCR; Dppa2/4 conserved region
    pfam14049
    Location:142 → 224
    Dppa2_A; Dppa2/4 conserved region in higher vertebrates

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    112014076..112036840 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345349.1 → XP_054201324.1  developmental pluripotency-associated protein 2 isoform X2

    UniProtKB/Swiss-Prot
    Q7Z7J5, Q8WVF0

  2. XM_054345350.1 → XP_054201325.1  developmental pluripotency-associated protein 2 isoform X2

    UniProtKB/Swiss-Prot
    Q7Z7J5, Q8WVF0

  3. XM_054345348.1 → XP_054201323.1  developmental pluripotency-associated protein 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z7J5.2 GenPept UniProtKB/Swiss-Prot:Q7Z7J5

Gene LinkOut

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