EPC2 (Enhancer of Polycomb Homolog 2)
A chromatin regulator involved in transcriptional repression and cancer development.
Gene Information Card
| Symbol | EPC2 |
|---|---|
| Full Name | Enhancer of Polycomb Homolog 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q23.1 |
| NCBI Gene ID | 26122 ncbi.nlm.nih.gov/gene/26122 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q52LR7 |
| OMIM ID | 611000 |
| HGNC ID | 24537 |
| Aliases | EPC2, EPL2, ENL, dJ486L4.2 |
Description
EPC2 (Enhancer of Polycomb Homolog 2) encodes a component of the NuA4 histone acetyltransferase complex and the Polycomb repressive complex 2 (PRC2). It functions in chromatin remodeling, transcriptional repression, and regulation of gene expression during development. EPC2 is implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | EPC2 mutations may disrupt PRC2-mediated repression of tumor suppressor genes, promoting oncogenesis. | COSMIC, ClinVar |
| Breast cancer | Altered EPC2 expression correlates with poor prognosis; potential role in chromatin dysregulation. | NCBI Gene, COSMIC |
| Intellectual disability | De novo missense variants in EPC2 associated with neurodevelopmental phenotypes. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Low |
| Colon | 6.5 | Low |
| Breast | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney |
| HeLa | 7.8 | Cervical cancer |
| HCT116 | 6.4 | Colorectal carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation of protein |
| c.567G>A (p.Glu189Lys) | Missense | 0.2% | Unknown; possibly damaging (PolyPhen-2) |
| c.890_891insA | Frameshift | <0.1% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in EPC2 lead to truncated proteins or nonsense-mediated decay, impairing PRC2 complex assembly and chromatin repression.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in EPC2.
Dominant Negative (DN)
Some missense variants may disrupt EPC2 interaction with other PRC2 components, potentially exerting dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • chromatin organization (GO:0006325) |
| • regulation of transcription by RNA polymerase II (GO:0006357) | • histone acetylation (GO:0016573) |
| • ESC/E(Z) complex (GO:0035098) |
Pathways
• hsa:04110 - Cell cycle
• hsa:05200 - Pathways in cancer
• hsa:05034 - Alcoholism (histone modification)
Protein Summary
EPC2 is a 832-amino acid protein containing an EPL1 domain and a conserved C-terminal region. It localizes to the nucleus and is a core component of the NuA4 histone acetyltransferase complex and PRC2. EPC2 mediates histone H3 lysine 27 trimethylation (H3K27me3) and transcriptional repression of developmental genes. Its dysregulation contributes to oncogenesis and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPC2 Knockout HEK293 Cell Line | EDJ-KQ8417 | Human | 26122 | Details Get a Quote |
| EPC2 Knockout A-549 Cell Line | EDJ-KQ34503 | Human | 26122 | Details Get a Quote |
| EPC2 Knockout HCT 116 Cell Line | EDJ-KQ34504 | Human | 26122 | Details Get a Quote |
| EPC2 Knockout HeLa Cell Line | EDJ-KQ34505 | Human | 26122 | Details Get a Quote |
