PCGF2
Polycomb Group Ring Finger 2: A Key Epigenetic Regulator in Development and Cancer
Gene Information Card
| Symbol | PCGF2 |
|---|---|
| Full Name | Polycomb Group Ring Finger 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 7703 ncbi.nlm.nih.gov/gene/7703 |
| Ensembl ID | ENSG00000108387 |
| UniProt ID | P35227 |
| OMIM ID | 600346 |
| HGNC ID | 8829 |
| Aliases | RNF110, MEL-18, ZNF144 |
Description
PCGF2 (Polycomb Group Ring Finger 2) encodes a member of the Polycomb group (PcG) family, which forms part of the Polycomb repressive complex 1 (PRC1). This protein contains a RING finger domain and is involved in chromatin modification and transcriptional repression of target genes, playing critical roles in development, stem cell maintenance, and oncogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PCGF2 overexpression promotes cell proliferation and invasion via PRC1-mediated repression of tumor suppressor genes | PMID: 25609812 |
| Prostate cancer | PCGF2 (MEL-18) downregulation correlates with poor prognosis and increased metastasis | PMID: 21573172 |
| Gastric cancer | PCGF2 silencing reduces tumor growth and induces apoptosis through p53 pathway | PMID: 27323851 |
| Neuroblastoma | PCGF2 amplification associated with aggressive tumor phenotype | PMID: 19165225 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 10.2 | Medium |
| Lymph node | 8.9 | Medium |
| Brain | 6.3 | Low |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney cells |
| K562 | 12.8 | Leukemia cell line |
| MCF7 | 9.7 | Breast cancer cell line |
| HepG2 | 7.5 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.331C>T (p.Arg111Trp) | Missense | <0.1% | Altered RING finger domain; potential loss of E3 ubiquitin ligase activity |
| c.487G>A (p.Gly163Arg) | Missense | <0.1% | Unknown functional impact |
| c.1A>G (p.Met1Val) | Start loss | <0.1% | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Mutations in the RING finger domain (e.g., p.Arg111Trp) may impair ubiquitin ligase activity and PRC1 function.
Gain of Function (GOF)
Not well documented; overexpression in cancers suggests potential oncogenic gain-of-function.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa04110 - Cell cycle
• hsa05200 - Pathways in cancer
• hsa05206 - MicroRNAs in cancer
• hsa05166 - Human T-cell leukemia virus 1 infection
Protein Summary
PCGF2 (MEL-18) is a 344-amino-acid protein containing a RING finger domain and a RAWUL domain. It is a core component of the Polycomb repressive complex 1 (PRC1), which mediates monoubiquitination of histone H2A at lysine 119 (H2AK119ub), leading to transcriptional repression. PCGF2 is essential for embryonic development, stem cell self-renewal, and lineage specification. Dysregulation of PCGF2 is implicated in multiple cancers, where it can act as either an oncogene or tumor suppressor depending on context.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCGF2 Knockout HEK293 Cell Line | EDJ-KQ6076 | Human | 7703 | Details Get a Quote |
| PCGF2 Knockout HeLa Cell Line | EDJ-KQ28485 | Human | 7703 | Details Get a Quote |
| PCGF2 Knockout A-549 Cell Line | EDJ-KQ29780 | Human | 7703 | Details Get a Quote |
| PCGF2 Knockout HCT 116 Cell Line | EDJ-KQ29781 | Human | 7703 | Details Get a Quote |
