HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PEG3
paternally expressed 3
Chromosome 19 · 19q13.43
NCBI Gene: 5178Ensembl: ENSG00000198300.14HGNC: HGNC:8826UniProt: A0A3B3IRU6
44PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of gene expressionpositive regulation of transcription by RNA polymerase IIRNA polymerase II transcription regulatory region sequence-specific DNA bindingneurodegenerative diseaseurinary tract obstructioncentral nervous system cancercervical carcinoma
✦AI Summary

PEG3 is a paternally expressed, imprinted gene encoding a C2H2 zinc finger transcription factor with dual roles in development and tumor suppression 1. Functionally, PEG3 mediates apoptosis through p53-dependent pathways and inhibits Wnt/β-catenin signaling by promoting β-catenin degradation via a p53/Siah1-dependent mechanism 2. This transcriptional repressor directly binds promoters of lipogenic genes including ACLY, FASN, IDH1, and HMGCR, regulating lipid metabolism with sex-biased effects 3. In developmental contexts, PEG3 is enriched in growing adrenal cortex tissues and regulates maternal-caring behaviors 45. Disease-wise, PEG3 functions as a tumor suppressor in gliomas; loss of PEG3 expression through promoter hypermethylation correlates with increased tumor grade and enhanced glioma stem cell proliferation 627. Clinically, PEG3 represents a susceptibility locus for cancer and neurobehavioral deficits, with therapeutic potential through demethylating agents that restore expression 1. The gene's imprinted status throughout life and widespread neural expression underscore its importance in maintaining cellular homeostasis.

Sources cited
1
PEG3 is paternally expressed imprinted gene with roles in growth, apoptosis, and maternal nurturing; proposed susceptibility locus for cancer
PMID: 11161803
2
PEG3 inhibits Wnt signaling by promoting β-catenin degradation via p53/Siah1-dependent pathway; decreased expression in gliomas promotes proliferation
PMID: 20064927
3
PEG3 acts as transcriptional repressor of lipogenic genes (ACLY, FASN, IDH1, HMGCR) with sex-biased effects
PMID: 34048454
4
PEG3 is enriched in developing adrenal cortex as growth-promoting imprinted gene
PMID: 37440461
5
PEG3 domain contains imprinted genes with roles in fetal growth, maternal-caring behaviors, and potential tumor suppressor functions
PMID: 25317109
6
PEG3 functions as tumor suppressor in glioma cells; transfection reduces tumorigenicity in nude mice
PMID: 11260267
7
PEG3 expression is epigenetically silenced through hypermethylation in glioma cell lines; reversible with demethylating agents
PMID: 11398192
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.35Weak
urinary tract obstructionOpen Targets
0.30Weak
central nervous system cancerOpen Targets
0.28Weak
cervical carcinomaOpen Targets
0.27Weak
pancreatic adenocarcinomaOpen Targets
0.25Weak
protozoa infectious diseaseOpen Targets
0.25Weak
vaginal disorderOpen Targets
0.23Weak
Alzheimer diseaseOpen Targets
0.23Weak
Subdural hemorrhageOpen Targets
0.15Weak
hypertensive heart diseaseOpen Targets
0.14Weak
Cerebral degenerationOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
gliomaOpen Targets
0.07Suggestive
Down syndromeOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
multinodular goiterOpen Targets
0.04Suggestive
obesityOpen Targets
0.04Suggestive
MODYOpen Targets
0.04Suggestive
inherited obesityOpen Targets
0.03Suggestive
Sertoli Cell-Only SyndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LOC728743Shared pathway100%ATXN7L3BShared pathway100%CAVIN4Shared pathway100%UNCXShared pathway100%DPPA5Shared pathway100%NKAPLShared pathway100%
Tissue Expression6 tissues
Ovary
100%
Brain
14%
Heart
3%
Liver
3%
Bone Marrow
1%
Lung
0%
Gene Interaction Network
Click a node to explore
PEG3LOC728743ATXN7L3BCAVIN4UNCXDPPA5NKAPL
PROTEIN STRUCTURE
Preparing viewer…
PDB4BHX · 1.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.87LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.44–0.87]
RankingsWhere PEG3 stands among ~20K protein-coding genes
  • #9,633of 20,598
    Most Researched44
  • #7,639of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedPEG3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A systematic review of p53 regulation of oxidative stress in skeletal muscle.
PMID: 29298131
Redox Rep · 2018
1.00
2
Regulation and function of the peg3 imprinted domain.
PMID: 25317109
Genomics Inform · 2014
0.90
3
PMID: 20641630
0.80
4
An integrated single-cell analysis of human adrenal cortex development.
PMID: 37440461
JCI Insight · 2023
0.70
5
Tumour suppressor activity of human imprinted gene PEG3 in a glioma cell line.
PMID: 11260267
Genes Cells · 2001
0.60