HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 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.
PA2G4
proliferation-associated 2G4
Chromosome 12 · 12q13.2
NCBI Gene: 5036Ensembl: ENSG00000170515.15HGNC: HGNC:8550UniProt: Q9UQ80
241PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleic acid bindingextracellular exosometranscription corepressor activityRNA bindingneurodegenerative diseasehepatocellular carcinomanasopharyngeal carcinomaBlackfan-Diamond anemia
✦AI Summary

PA2G4 (proliferation-associated 2G4), also known as ErbB3-binding protein 1 (EBP1), is a multifunctional regulator with context-dependent roles in cellular homeostasis and disease. Structurally, PA2G4 exists as two isoforms—PA2G4-p42 and PA2G4-p48—that often exert opposing functions 1. Mechanistically, PA2G4 regulates transcription as an androgen receptor corepressor and E2F1 transcription inhibitor, while also binding RNA and participating in ribosomal RNA processing and translation 2. Beyond transcription, PA2G4 interacts with critical oncoproteins: it binds MYCN in neuroblastoma 3 and associates with presenilin in γ-secretase, inhibiting amyloid-β production 4. PA2G4 can function as either a tumor suppressor or oncogene depending on tissue context, with dysregulation linked to multiple cancers including neuroblastoma, glioblastoma, AML, and nasopharyngeal carcinoma 1567. Clinically, PA2G4 expression correlates with prognosis across diverse tumor types 1. Recent therapeutic approaches target the PA2G4-MYCN protein-protein interface with small molecule inhibitors 3, while PA2G4 shows promise as a target in 3q26 AML when combined with histone deacetylase inhibitors 5. Additionally, PA2G4 modulation affects cardiac regeneration through NF110-NF45 signaling 8, and EBP1 proteolysis contributes to Alzheimer's disease pathology 4.

Sources cited
1
Structurally, PA2G4 exists as two isoforms—PA2G4-p42 and PA2G4-p48—that often exert opposing functions .
PMID: 32952126
2
Mechanistically, PA2G4 regulates transcription as an androgen receptor corepressor and E2F1 transcription inhibitor, while also binding RNA and participating in ribosomal RNA processing and translation .
PMID: 39923993
3
Beyond transcription, PA2G4 interacts with critical oncoproteins: it binds MYCN in neuroblastoma and associates with presenilin in γ-secretase, inhibiting amyloid-β production .
PMID: 36980710
4
Beyond transcription, PA2G4 interacts with critical oncoproteins: it binds MYCN in neuroblastoma and associates with presenilin in γ-secretase, inhibiting amyloid-β production .
PMID: 39779912
5
PA2G4 can function as either a tumor suppressor or oncogene depending on tissue context, with dysregulation linked to multiple cancers including neuroblastoma, glioblastoma, AML, and nasopharyngeal carcinoma , , , .
PMID: 38834613
6
Additionally, PA2G4 modulation affects cardiac regeneration through NF110-NF45 signaling , and EBP1 proteolysis contributes to Alzheimer's disease pathology .
PMID: 39814981
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.51Moderate
hepatocellular carcinomaOpen Targets
0.09Suggestive
nasopharyngeal carcinomaOpen Targets
0.09Suggestive
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
neuroblastomaOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
adrenal cortex carcinomaOpen Targets
0.07Suggestive
chronic hepatitis B virus infectionOpen Targets
0.07Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
acute myeloid leukemiaOpen Targets
0.06Suggestive
hemolytic anemia due to adenylate kinase deficiencyOpen Targets
0.05Suggestive
Heinz body anemiaOpen Targets
0.05Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.05Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
prostate cancerOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
delta-beta-thalassemiaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RPL13AProtein interaction100%RPL38Protein interaction100%RPL27Protein interaction100%RPL29Protein interaction100%RPLP0Protein interaction100%RPL32Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Lung
60%
Heart
56%
Bone Marrow
55%
Ovary
51%
Liver
49%
Gene Interaction Network
Click a node to explore
PA2G4RPL13ARPL38RPL27RPL29RPLP0RPL32
PROTEIN STRUCTURE
Preparing viewer…
PDB2Q8K · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.23Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.10 [0.05–0.23]
RankingsWhere PA2G4 stands among ~20K protein-coding genes
  • #1,627of 20,598
    Most Researched241 · top 10%
  • #641of 17,882
    Most Constrained (LOEUF)0.23 · top 5%
Genes detectedPA2G4
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
PA2G4 in health and disease: An underestimated multifunctional regulator.
PMID: 39923993
J Adv Res · 2025
1.00
2
A structural view of PA2G4 isoforms with opposing functions in cancer.
PMID: 32952126
J Biol Chem · 2020
0.90
3
Orthogonal proteogenomic analysis identifies the druggable PA2G4-MYC axis in 3q26 AML.
PMID: 38834613
Nat Commun · 2024
0.80
4
Increased PA2G4 Expression Is an Unfavorable Factor in Nasopharyngeal Carcinoma.
PMID: 33605574
Appl Immunohistochem Mol Morphol · 2021
0.80
5
Molecular cloning and mapping of a human cDNA (PA2G4) that encodes a protein highly homologous to the mouse cell cycle protein p38-2G4.
PMID: 9345902
Cytogenet Cell Genet · 1997
0.76