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

    Gene ID: 151871, updated on 27-Nov-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 epigenetic regulation of gene expression; lung-associated mesenchyme development; and positive regulation of stem cell proliferation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 2.2) See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (109293788..109316517, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (112014076..112036840, complement)
    RS_2024_09 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. 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
    3. Diagnostic clinical relevance of developmental pluripotency-associated 2 (DPPA2) in colorectal cancer. Ghodsi M, et al. Int J Surg, 2015 Jan. PMID 25497006
    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. [Molecular cloning and characterization analysis of HPESCRG1, a novel gene expressed specifically in human embryonic stem cell]. Du J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2004 Dec. PMID 15583978

    See all (25) 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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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