PEG10
Paternally Expressed 10, a retrotransposon-derived imprinted gene involved in placental development and cancer
Gene Information Card
| Symbol | PEG10 |
|---|---|
| Full Name | Paternally Expressed 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.3 |
| NCBI Gene ID | 23089 ncbi.nlm.nih.gov/gene/23089 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q86TG7 |
| OMIM ID | 609810 |
| HGNC ID | 14005 |
| Aliases | HB-1, MEF3L, Mar2, RGAG3, EDR |
Description
PEG10 (Paternally Expressed 10) is an imprinted gene derived from a retrotransposon, located on chromosome 7q21.3. It is paternally expressed and plays a critical role in placental development, cell proliferation, and apoptosis. PEG10 is frequently upregulated in various cancers, particularly hepatocellular carcinoma, and is associated with poor prognosis. The gene encodes two protein isoforms (RF1 and RF1/RF2) via a programmed -1 ribosomal frameshift, with the longer isoform containing a putative aspartic protease domain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of PEG10 promotes cell proliferation and inhibits apoptosis through interaction with SIAH1 and activation of Wnt/β-catenin signaling | PMID: 16740656, COSMIC |
| Breast cancer | PEG10 upregulation correlates with poor survival; promotes invasion and metastasis via EMT | PMID: 28431210 |
| Prostate cancer | PEG10 is overexpressed and contributes to androgen-independent growth | PMID: 17563756 |
| Choriocarcinoma | PEG10 is essential for trophoblast cell proliferation and invasion; loss leads to placental defects | PMID: 17060453 |
| Acute myeloid leukemia | PEG10 expression is elevated and associated with leukemogenesis | PMID: 23327922 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 58.2 | High |
| Testis | 12.4 | Medium |
| Liver | 3.1 | Low |
| Brain | 1.8 | Low |
| Heart | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 45.6 | Hepatocellular carcinoma cell line |
| MCF7 | 22.3 | Breast cancer cell line |
| JEG-3 | 68.1 | Choriocarcinoma cell line |
| K562 | 15.7 | Leukemia cell line |
| HEK293 | 8.4 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% | p.Pro412Ser; uncertain significance |
| c.567_568insA | Frameshift | 0.01% | Predicted loss of function |
| c.890G>A | Nonsense | 0.005% | p.Trp297*; premature stop |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of protein function, potentially impairing placental development.
Gain of Function (GOF)
Not well characterized; overexpression in cancer suggests possible gain-of-function through increased copy number or transcriptional activation.
Dominant Negative (DN)
No evidence for dominant-negative effects reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Apoptosis modulation (KEGG: hsa04210)
• p53 signaling pathway (KEGG: hsa04115)
Protein Summary
The PEG10 protein is a retrotransposon-derived, paternally expressed protein with two isoforms: a shorter RF1 isoform and a longer RF1/RF2 isoform produced by programmed -1 ribosomal frameshifting. The longer isoform contains a putative aspartic protease domain. PEG10 localizes to the nucleus and cytoplasm, interacts with SIAH1 to inhibit apoptosis, and promotes cell proliferation. It is essential for normal placental development and is frequently overexpressed in cancers, where it contributes to tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEG10 Knockout HEK293 Cell Line | EDJ-KQ1030 | Human | 23089 | Details Get a Quote |
| PEG10 Knockout A-549 Cell Line | EDJ-KQ20133 | Human | 23089 | Details Get a Quote |
| PEG10 Knockout HCT 116 Cell Line | EDJ-KQ20134 | Human | 23089 | Details Get a Quote |
| PEG10 Knockout HeLa Cell Line | EDJ-KQ18794 | Human | 23089 | Details Get a Quote |
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