PHC2 (Polyhomeotic Homolog 2) Gene
A core component of the Polycomb Repressive Complex 1 (PRC1) involved in chromatin remodeling and transcriptional repression.
Gene Information Card
| Symbol | PHC2 |
|---|---|
| Full Name | Polyhomeotic Homolog 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p35.1 |
| NCBI Gene ID | 1912 ncbi.nlm.nih.gov/gene/1912 |
| Ensembl ID | ENSG00000117461 |
| UniProt ID | Q8IXK0 |
| OMIM ID | 602979 |
| HGNC ID | 8926 |
| Aliases | HPH2, EDR2, PH2 |
Description
PHC2 encodes polyhomeotic homolog 2, a component of the Polycomb Repressive Complex 1 (PRC1). PRC1 maintains transcriptional repression of target genes by catalyzing monoubiquitination of histone H2A at lysine 119 and promoting chromatin compaction. PHC2 contains a sterile alpha motif (SAM) domain essential for complex oligomerization and chromatin binding. It plays a critical role in development, stem cell maintenance, and cell cycle regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Dysregulation of PRC1-mediated repression of tumor suppressor genes | COSMIC; PMID: 25691885 |
| Prostate cancer | PHC2 overexpression linked to androgen receptor signaling | COSMIC; PMID: 27498868 |
| Colorectal cancer | Altered PHC2 expression affects Wnt/β-catenin pathway | COSMIC; PMID: 28397828 |
| Neurodevelopmental disorders | De novo missense variants in PHC2 associated with intellectual disability | ClinVar; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| HeLa | 8.7 | Cervical cancer cells |
| MCF7 | 7.5 | Breast cancer cells |
| K562 | 6.9 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53Trp) | Missense | <0.01% | Loss of SAM domain oligomerization |
| c.421_423del (p.Lys141del) | In-frame deletion | <0.01% | Impaired PRC1 binding |
| c.832G>A (p.Glu278Lys) | Missense | <0.01% | Altered chromatin localization |
Mutation functional classification
Loss of Function (LOF)
Mutations disrupting SAM domain or PRC1 interaction reduce repressive activity.
Gain of Function (GOF)
Not well characterized; overexpression in some cancers may enhance oncogenic repression.
Dominant Negative (DN)
SAM domain mutants may interfere with wild-type PHC2 oligomerization.
View complete mutation data：
Gene Ontology (GO)
| • chromatin organization (GO:0006325) | • regulation of transcription, DNA-templated (GO:0006355) |
| • nucleus (GO:0005634) | • PRC1 complex (GO:0035102) |
| • zinc ion binding (GO:0008270) |
Pathways
• Polycomb Repressive Complex 1 (PRC1) pathway
• Chromatin modifying enzymes
• Transcriptional repression by Polycomb group proteins
Protein Summary
PHC2 is a 858-amino-acid nuclear protein containing an N-terminal zinc finger domain, a central FCS (Finger, C-terminal, SAM) region, and a C-terminal SAM domain. It forms homooligomers and heterooligomers with other PRC1 components (e.g., BMI1, RING1B). The SAM domain mediates self-association and chromatin targeting. PHC2 is essential for embryonic development and is implicated in cancer when dysregulated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHC2 Knockout HEK293 Cell Line | EDJ-KQ4498 | Human | 1912 | Details Get a Quote |
| PHC2 Knockout A-549 Cell Line | EDJ-KQ27087 | Human | 1912 | Details Get a Quote |
| PHC2 Knockout HCT 116 Cell Line | EDJ-KQ27088 | Human | 1912 | Details Get a Quote |
| PHC2 Knockout HeLa Cell Line | EDJ-KQ27089 | Human | 1912 | Details Get a Quote |
