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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AEBP2
AE binding protein 2
Chromosome 12 · 12p12.3
NCBI Gene: 121536Ensembl: ENSG00000139154.16HGNC: HGNC:24051UniProt: Q6ZN18
47PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmESC/E(Z) complexchromatinregulation of transcription by RNA polymerase IIAbnormality of the skeletal systemneurodegenerative diseasechronic mountain sicknesstricuspid valve disease
✦AI Summary

AEBP2 (AE binding protein 2) functions as an accessory subunit of Polycomb repressive complex 2 (PRC2), which catalyzes H3K27 trimethylation for transcriptional repression 1. AEBP2 interacts with the RBAP48 subunit and mimics an unmodified histone H3 tail, contributing to PRC2 stability and nucleosome localization 1. Structurally, AEBP2 contains three Cys2-His2 zinc fingers and engages with ubiquitinated histone H2AK119 and the H2A-H2B surface, playing a scaffolding role in PRC2 recruitment by PRC1-mediated marks 2. However, recent findings reveal functional complexity: the widely expressed long isoform (AEBP2L) inhibits PRC2 activity through a negatively charged N-terminal region, whereas the early embryonic short isoform (AEBP2S) promotes PRC2 function 3. Developmentally, AEBP2 regulates neural crest cell migration and differentiation through PRC2-mediated epigenetic mechanisms 4, and Aebp2 knockout causes embryonic lethality with heterozygotes displaying Hirschsprung's disease and Waardenburg syndrome phenotypes 4. In cancer, AEBP2 exhibits an oncogenic role in ovarian cancer, where β-TRCP-mediated degradation controls cisplatin sensitivity 5. AEBP2 has also emerged as a potential ferroptosis-related biomarker in acute kidney injury 6.

Sources cited
1
AEBP2 is an accessory cofactor of PRC2 that mimics unmodified H3 tail, interacts with RBAP48, and contributes to PRC2 stability
PMID: 29348366
2
AEBP2 interacts with H2AK119ub1-containing nucleosomes and has a scaffolding role; presence of AEBP2 and JARID2 overcomes inhibitory effects of H3K4me3 and H3K36me3
PMID: 33479123
3
AEBP2L (long isoform) inhibits PRC2 activity through a negatively charged N-terminus, while AEBP2S (short isoform) expressed during early embryogenesis promotes PRC2 function
PMID: 41168462
4
Aebp2 regulates neural crest cell migration and development through PRC2-mediated epigenetic mechanisms; Aebp2 knockout causes embryonic lethality with heterozygotes showing Hirschsprung's disease and Waardenburg syndrome phenotypes
PMID: 21949878
5
AEBP2 plays an oncogenic role in ovarian cancer; β-TRCP-mediated AEBP2 degradation controls cisplatin resistance
PMID: 31864706
6
AEBP2 identified as a ferroptosis-related gene biomarker in acute kidney injury with AUC >0.800
PMID: 39042632
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.45Moderate
chronic mountain sicknessOpen Targets
0.32Weak
tricuspid valve diseaseOpen Targets
0.28Weak
alcohol drinkingOpen Targets
0.28Weak
Abdominal Aortic AneurysmOpen Targets
0.26Weak
oral mucosa leukoplakiaOpen Targets
0.26Weak
aortic aneurysmOpen Targets
0.24Weak
aneurysmOpen Targets
0.24Weak
essential hypertensionOpen Targets
0.21Weak
hypertensionOpen Targets
0.21Weak
ossification of the posterior longitudinal ligament of the spineOpen Targets
0.20Weak
Facial wrinklingOpen Targets
0.20Weak
facial nerve diseaseOpen Targets
0.20Weak
coronary artery diseaseOpen Targets
0.20Weak
diverticular diseaseOpen Targets
0.19Weak
Myasthenia gravisOpen Targets
0.19Weak
liver diseaseOpen Targets
0.17Weak
celiac diseaseOpen Targets
0.17Weak
HypercholesterolemiaOpen Targets
0.15Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
E2F6Shared pathway100%H2AC7Shared pathway100%MAXShared pathway100%H2AC14Shared pathway100%YAF2Shared pathway100%BAHD1Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
95%
Brain
92%
Heart
90%
Lung
68%
Liver
55%
Gene Interaction Network
Click a node to explore
AEBP2E2F6H2AC7MAXH2AC14YAF2BAHD1
PROTEIN STRUCTURE
Preparing viewer…
PDB5Y1U · 2.14 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.20 [0.10–0.46]
RankingsWhere AEBP2 stands among ~20K protein-coding genes
  • #9,167of 20,598
    Most Researched47
  • #2,613of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedAEBP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structures of human PRC2 with its cofactors AEBP2 and JARID2.
PMID: 29348366
Science · 2018
1.00
2
Structural and biochemical insights into human zinc finger protein AEBP2 reveals interactions with RBBP4.
PMID: 29134516
Protein Cell · 2018
0.90
3
JARID2 and AEBP2 regulate PRC2 in the presence of H2AK119ub1 and other histone modifications.
PMID: 33479123
Science · 2021
0.80
4
β-TRCP-mediated AEBP2 ubiquitination and destruction controls cisplatin resistance in ovarian cancer.
PMID: 31864706
Biochem Biophys Res Commun · 2020
0.70
5
Exploring the role of ferroptosis-related genes as biomarkers in acute kidney injury.
PMID: 39042632
PLoS One · 2024
0.60