EPOP
Elongin BC and Polycomb Repressive Complex 2 Associated Protein
Gene Information Card
| Symbol | EPOP |
|---|---|
| Full Name | Elongin BC and Polycomb Repressive Complex 2 Associated Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 100505746 ncbi.nlm.nih.gov/gene/100505746 |
| Ensembl ID | ENSG00000214548 |
| UniProt ID | A0A0A0MRZ8 |
| OMIM ID | 618147 |
| HGNC ID | 44278 |
| Aliases | C17orf101, HSPC142 |
Description
EPOP (Elongin BC and Polycomb Repressive Complex 2 Associated Protein) is a protein-coding gene located on chromosome 17q21.31. It encodes a component of the Polycomb repressive complex 2 (PRC2) and interacts with Elongin BC complex, playing a role in transcriptional repression and chromatin regulation. EPOP is involved in developmental processes and has been implicated in cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | EPOP is part of PRC2, which is frequently dysregulated in cancers; EPOP may modulate PRC2 activity and target gene repression. | COSMIC, NCBI Gene |
| Developmental disorders | PRC2 components are essential for embryonic development; EPOP mutations may contribute to developmental abnormalities. | OMIM |
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 | 10.0 | Moderate expression |
| HeLa | 7.5 | Moderate expression |
| K562 | 6.0 | Low expression |
| A549 | 5.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown functional effect |
| c.100C>T | missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential loss of PRC2 interaction may lead to derepression of target genes.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • regulation of transcription (GO:0006355) | • chromatin organization (GO:0006325) |
Pathways
• PRC2-mediated gene silencing
• Elongin BC complex pathway
Protein Summary
EPOP is a small nuclear protein that associates with the Polycomb repressive complex 2 (PRC2) and the Elongin BC complex. It is involved in transcriptional repression by facilitating PRC2 recruitment to specific genomic loci, thereby promoting histone H3 lysine 27 trimethylation (H3K27me3). EPOP also interacts with Elongin BC, which is part of the RNA polymerase II elongation complex, suggesting a role in coupling transcription elongation with chromatin regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPOP Knockout HEK293 Cell Line | EDJ-KQ13306 | Human | 100170841 | Details Get a Quote |
| EPOP Knockout A-549 Cell Line | EDJ-KQ42759 | Human | 100170841 | Details Get a Quote |
| EPOP Knockout HCT 116 Cell Line | EDJ-KQ42760 | Human | 100170841 | Details Get a Quote |
| EPOP Knockout HeLa Cell Line | EDJ-KQ42761 | Human | 100170841 | Details Get a Quote |
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