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

Summary

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, Dec 2024]
Expression: Restricted expression toward testis (RPKM 2.2) See more
Orthologs: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
High DPPA2 Protein Expression is Associated with Gastric Cancer Metastasis
Title: DPPA2 Protein Expression is Associated with Gastric Cancer Metastasis.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

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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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)

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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

109293788..109316517 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

NC_060927.1 Alternate T2T-CHM13v2.0

Range

112014076..112036840 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q7Z7J5, Q8WVF0
XM_054345350.1 → XP_054201325.1 developmental pluripotency-associated protein 2 isoform X2

UniProtKB/Swiss-Prot

Q7Z7J5, Q8WVF0
XM_054345348.1 → XP_054201323.1 developmental pluripotency-associated protein 2 isoform X1