AEBP2
AE Binding Protein 2: A Core Component of the Polycomb Repressive Complex 2 (PRC2)
Gene Information Card
| Symbol | AEBP2 |
|---|---|
| Full Name | AE Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p12.1 |
| NCBI Gene ID | 121536 ncbi.nlm.nih.gov/gene/121536 |
| Ensembl ID | ENSG00000111224 |
| UniProt ID | Q6ZN18 |
| OMIM ID | 617934 |
| HGNC ID | 24077 |
| Aliases | AE binding protein 2, PRC2 subunit, zinc finger protein AEBP2 |
Description
AEBP2 (AE Binding Protein 2) encodes a zinc finger protein that is a core component of the Polycomb Repressive Complex 2 (PRC2). PRC2 catalyzes the trimethylation of histone H3 at lysine 27 (H3K27me3), a repressive histone mark essential for transcriptional silencing during development and cell differentiation. AEBP2 enhances PRC2 enzymatic activity and is required for its recruitment to specific genomic targets. The gene is located on chromosome 12p12.1 and is conserved across vertebrates.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | AEBP2 mutations may impair PRC2 function, leading to dysregulation of gene silencing pathways critical for neural development. | ClinVar; OMIM |
| Cancer (various) | Altered AEBP2 expression or mutations can disrupt PRC2 activity, contributing to aberrant gene silencing in tumorigenesis. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| K562 | 7.8 | Leukemia cells |
| HeLa | 6.5 | Cervical cancer cells |
| HepG2 | 5.2 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of function; ClinVar |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Uncertain significance; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in AEBP2 are predicted to reduce PRC2 activity, leading to decreased H3K27me3 levels and derepression of target genes.
Gain of Function (GOF)
No gain-of-function mutations have been reported in AEBP2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for AEBP2.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • metal ion binding |
| • protein binding | • zinc ion binding |
| • PRC2 complex | • nucleus |
| • regulation of transcription | • DNA-templated |
| • histone H3-K27 methylation |
Pathways
• PRC2-mediated H3K27me3
• Chromatin organization
• Gene silencing
Protein Summary
AEBP2 is a 517-amino acid zinc finger protein that serves as a regulatory subunit of the Polycomb Repressive Complex 2 (PRC2). It binds to DNA and chromatin, facilitating PRC2 recruitment to target loci and stimulating its methyltransferase activity. The protein contains an N-terminal AE-binding domain and multiple C2H2-type zinc fingers. AEBP2 is essential for proper embryonic development and lineage specification.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AEBP2 Knockout HEK293 Cell Line | EDJ-KQ8043 | Human | 121536 | Details Get a Quote |
| AEBP2 Knockout HCT 116 Cell Line | EDJ-KQ32502 | Human | 121536 | Details Get a Quote |
| AEBP2 Knockout A-549 Cell Line | EDJ-KQ33844 | Human | 121536 | Details Get a Quote |
| AEBP2 Knockout HeLa Cell Line | EDJ-KQ33846 | Human | 121536 | Details Get a Quote |
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