PCGF6
Polycomb Group Ring Finger 6
Gene Information Card
| Symbol | PCGF6 |
|---|---|
| Full Name | Polycomb Group Ring Finger 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.33 |
| NCBI Gene ID | 84108 ncbi.nlm.nih.gov/gene/84108 |
| Ensembl ID | ENSG00000120063 |
| UniProt ID | Q9BXU7 |
| OMIM ID | 608544 |
| HGNC ID | 19143 |
| Aliases | RNF134, MBLR |
Description
PCGF6 (Polycomb Group Ring Finger 6) encodes a member of the Polycomb group (PcG) family, which forms part of the Polycomb repressive complex 1 (PRC1). PCGF6 is a ring finger protein that mediates histone H2A monoubiquitination and is involved in transcriptional repression of target genes, particularly in embryonic stem cells and during development. It plays a role in cell proliferation, differentiation, and maintenance of cell identity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | PCGF6 overexpression or mutation may disrupt PRC1-mediated repression of tumor suppressor genes, promoting oncogenesis. | COSMIC; PMID: 25631443 |
| Developmental disorders | Altered PCGF6 function can impair proper gene silencing during embryogenesis, leading to developmental abnormalities. | OMIM; PMID: 21131980 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Brain | 6.1 | Low |
| Lung | 5.4 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.3 | Embryonic kidney cell line |
| K562 | 7.9 | Leukemia cell line |
| HeLa | 6.5 | Cervical cancer cell line |
| HepG2 | 5.2 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.632_633insA (p.Gln211Glufs*12) | Frameshift | <0.1% | Predicted loss of function; truncation of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations that truncate the protein likely impair PRC1 complex assembly and histone ubiquitination activity.
Gain of Function (GOF)
Not well characterized; some missense mutations may alter substrate specificity or enhance repressive activity.
Dominant Negative (DN)
Mutations that disrupt ring finger domain but allow dimerization may interfere with wild-type PCGF6 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Polycomb repressive complex 1 (PRC1) pathway
• Histone H2A monoubiquitination
• Transcriptional repression by Polycomb group proteins
Protein Summary
PCGF6 is a 344-amino acid protein containing a RING finger domain (C3HC4 type) and a C-terminal RAWUL domain. It functions as a component of non-canonical PRC1 complexes, where it recruits RING1B and mediates monoubiquitination of histone H2A at lysine 119 (H2AK119ub). This modification is essential for silencing developmental genes and maintaining stem cell pluripotency. PCGF6 also interacts with other PcG proteins and transcription factors to regulate target gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCGF6 Knockout HEK293 Cell Line | EDJ-KQ2288 | Human | 84108 | Details Get a Quote |
| PCGF6 Knockout A-549 Cell Line | EDJ-KQ22642 | Human | 84108 | Details Get a Quote |
| PCGF6 Knockout HCT 116 Cell Line | EDJ-KQ22643 | Human | 84108 | Details Get a Quote |
| PCGF6 Knockout HeLa Cell Line | EDJ-KQ22644 | Human | 84108 | Details Get a Quote |
