PEG10 Gene

Name	paternally expressed 10
Description	This is a paternally expressed imprinted gene that is thought to have been derived from the Ty3/Gypsy family of retrotransposons. It contains two overlapping open reading frames, RF1 and RF2, and expresses two proteins: a shorter, gag-like protein (with a CCHC-type zinc finger domain) from RF1; and a longer, gag/pol-like fusion protein (with an additional aspartic protease motif) from RF1/RF2 by -1 translational frameshifting (-1 FS). While -1 FS has been observed in RNA viruses and transposons in both prokaryotes and eukaryotes, this gene represents the first example of -1 FS in a eukaryotic cellular gene. This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC) and pseudoknot elements required for -1 FS. It is expressed in adult and embryonic tissues (most notably in placenta) and reported to have a role in cell proliferation, differentiation and apoptosis. Overexpression of this gene has been associated with several malignancies, such as hepatocellular carcinoma and B-cell lymphocytic leukemia. Knockout mice lacking this gene showed early embryonic lethality with placental defects, indicating the importance of this gene in embryonic development. Additional isoforms resulting from alternatively spliced transcript variants, and use of upstream non-AUG (CUG) start codon have been reported for this gene. [provided by RefSeq, Oct 2014]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPEG10 is a paternally expressed imprinted gene located on human chromosome 7q21 that originated from a retrotransposon integration. It contains two overlapping open reading frames with homology to retroviral gag and pol proteins and utilizes a highly efficient programmed –1 ribosomal frameshifting mechanism to produce its functional protein isoforms that are essential during embryonic development, particularly in the placenta."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn several malignancies, PEG10 expression is aberrantly upregulated through oncogenic signaling. For example, the proto‐oncogene MYC directly binds to an E‐box element within the PEG10 gene to promote its transcription, while the RNA‐binding protein IGF2BP1 recognizes m6A marks in the 3′ untranslated region of PEG10 mRNA, enhancing its stability and leading to repression of key cell cycle inhibitors. Such regulatory mechanisms contribute to PEG10’s oncogenic role in a variety of cancers—including hepatocellular carcinoma, endometrial cancer, B‐cell chronic lymphocytic leukemia, diffuse large B‐cell lymphoma, pancreatic cancer, and gallbladder adenocarcinoma—where its overexpression correlates with increased proliferation, reduced apoptosis, and poor clinical prognosis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "10"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMoreover, PEG10 exhibits unique functional properties beyond its role as an oncogene. It is capable of forming virus‐like particles that encapsulate and mediate the selective secretion of its own mRNA—a feature that has been creatively harnessed in the development of a modular therapeutic delivery platform known as selective endogenous encapsidation for cellular delivery (SEND). In addition, altered regulation of PEG10 has been observed in the context of adverse fetal outcomes, highlighting its critical importance in both developmental processes and disease."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "R Ono, S Kobayashi, H Wagatsuma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A retrotransposon-derived gene, PEG10, is a novel imprinted gene located on human chromosome 7q21."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genomics (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1006/geno.2001.6494"}], "href": "https://doi.org/10.1006/geno.2001.6494"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11318613"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11318613"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Michael B Clark, Martina Jänicke, Undine Gottesbühren, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mammalian gene PEG10 expresses two reading frames by high efficiency -1 frameshifting in embryonic-associated tissues."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M705676200"}], "href": "https://doi.org/10.1074/jbc.M705676200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17942406"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17942406"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Andreas Lux, Christian Beil, Meher Majety, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human retroviral gag- and gag-pol-like proteins interact with the transforming growth factor-beta receptor activin receptor-like kinase 1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M409197200"}], "href": "https://doi.org/10.1074/jbc.M409197200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15611116"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15611116"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Chi-Ming Li, Adam A Margolin, Martha Salas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PEG10 is a c-MYC target gene in cancer cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-05-1553"}], "href": "https://doi.org/10.1158/0008-5472.CAN-05-1553"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16423995"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16423995"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Hiroshi Okabe, Seiji Satoh, Yoichi Furukawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Involvement of PEG10 in human hepatocellular carcinogenesis through interaction with SIAH1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2003)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12810624"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12810624"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Birgit Kainz, Medhat Shehata, Martin Bilban, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Overexpression of the paternally expressed gene 10 (PEG10) from the imprinted locus on chromosome 7q21 in high-risk B-cell chronic lymphocytic leukemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Cancer (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ijc.22929"}], "href": "https://doi.org/10.1002/ijc.22929"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17621626"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17621626"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Wei Peng, Hong Fan, Guoqiu Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Upregulation of long noncoding RNA PEG10 associates with poor prognosis in diffuse large B cell lymphoma with facilitating tumorigenicity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Exp Med (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10238-015-0350-9"}], "href": "https://doi.org/10.1007/s10238-015-0350-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25864113"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25864113"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Yun-Peng Peng, Yi Zhu, Ling-Di Yin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PEG10 overexpression induced by E2F-1 promotes cell proliferation, migration, and invasion in pancreatic cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Exp Clin Cancer Res (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13046-017-0500-x"}], "href": "https://doi.org/10.1186/s13046-017-0500-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28193232"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28193232"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Heejin Bang, Sang Yun Ha, Soo Hyun Hwang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of PEG10 Is Associated with Poor Survival and Tumor Recurrence in Hepatocellular Carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res Treat (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4143/crt.2014.124"}], "href": "https://doi.org/10.4143/crt.2014.124"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25687862"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25687862"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Dong-cai Liu, Zhu-lin Yang, Song Jiang "}, {"type": "b", "children": [{"type": "t", "text": "Identification of PEG10 and TSG101 as carcinogenesis, progression, and poor-prognosis related biomarkers for gallbladder adenocarcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pathol Oncol Res (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12253-011-9394-7"}], "href": "https://doi.org/10.1007/s12253-011-9394-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21455631"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21455631"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Sofia Dória, Mário Sousa, Susana Fernandes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene expression pattern of IGF2, PHLDA2, PEG10 and CDKN1C imprinted genes in spontaneous miscarriages or fetal deaths."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epigenetics (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4161/epi.5.5.12118"}], "href": "https://doi.org/10.4161/epi.5.5.12118"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20484977"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20484977"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Michael Segel, Blake Lash, Jingwei Song, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mammalian retrovirus-like protein PEG10 packages its own mRNA and can be pseudotyped for mRNA delivery."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.abg6155"}], "href": "https://doi.org/10.1126/science.abg6155"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34413232"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34413232"}]}]}]}
Synonyms	Mart2, MEF3L, RGAG3, SIRH1, EDR, MAR2, RTL2
Proteins	PEG10_HUMAN
NCBI Gene ID	23089
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PEG10 has 14,624 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 108 datasets.

Click the + buttons to view associations for PEG10 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PEG10 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PEG10 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of PEG10 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of PEG10 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of PEG10 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PEG10 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of PEG10 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PEG10 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PEG10 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PEG10 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of PEG10 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with PEG10 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PEG10 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PEG10 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PEG10 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of PEG10 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PEG10 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PEG10 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PEG10 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing PEG10 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PEG10 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with PEG10 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PEG10 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PEG10 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with PEG10 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with PEG10 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of PEG10 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PEG10 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with PEG10 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with PEG10 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with PEG10 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with PEG10 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with PEG10 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at PEG10 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PEG10 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of PEG10 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing PEG10 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD High Level Gene-Disease Associations	diseases associated with PEG10 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of PEG10 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with PEG10 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing PEG10 from the GeneSigDB Published Gene Signatures dataset.