PHF19 (PHD Finger Protein 19)
A key component of the Polycomb Repressive Complex 2 (PRC2) involved in transcriptional repression and cancer progression.
Gene Information Card
| Symbol | PHF19 |
|---|---|
| Full Name | PHD Finger Protein 19 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q33.2 |
| NCBI Gene ID | 26147 ncbi.nlm.nih.gov/gene/26147 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q5T8P6 |
| OMIM ID | 609970 |
| HGNC ID | 24566 |
| Aliases | MTF2L1, PCL3, TDRD19B |
Description
PHF19 (PHD Finger Protein 19) encodes a polycomb-like protein that is a component of the Polycomb Repressive Complex 2 (PRC2). It specifically recognizes histone H3 trimethylated at lysine 36 (H3K36me3) via its Tudor domain and recruits PRC2 to target genes, promoting the trimethylation of histone H3 at lysine 27 (H3K27me3) and transcriptional repression. PHF19 is involved in stem cell differentiation, development, and is frequently dysregulated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Myeloma | PHF19 overexpression enhances PRC2 activity, promoting H3K27me3 and silencing tumor suppressor genes. | COSMIC, ClinVar |
| Acute Myeloid Leukemia | PHF19 is part of a PRC2 complex that represses differentiation genes; mutations or overexpression contribute to leukemogenesis. | COSMIC, NCBI |
| Prostate Cancer | PHF19 upregulation correlates with aggressive disease and poor prognosis via PRC2-mediated gene silencing. | COSMIC, NCBI |
| Breast Cancer | PHF19 overexpression is associated with PRC2 recruitment to target loci, promoting metastasis and therapy resistance. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Bone Marrow | 8.2 | Medium |
| Lymph Node | 7.9 | Medium |
| Brain | 3.1 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.3 | High expression |
| HeLa (cervical) | 9.8 | Medium expression |
| HepG2 (liver) | 6.4 | Medium expression |
| A549 (lung) | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.1% | Altered Tudor domain binding to H3K36me3 |
| c.1456G>A (p.Glu486Lys) | Missense | <0.1% | Potential loss of PRC2 interaction |
| c.1789_1790insA (p.Thr597Asnfs*5) | Frameshift | <0.1% | Truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, impairing PRC2 recruitment and H3K27me3 deposition.
Gain of Function (GOF)
Missense mutations that enhance PHF19 stability or PRC2 binding, leading to increased repressive marks.
Dominant Negative (DN)
Mutations that disrupt the Tudor domain but retain PRC2 binding, interfering with wild-type PHF19 function.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • chromatin organization (GO:0006325) | • regulation of transcription, DNA-templated (GO:0006355) |
| • histone H3-K36 trimethylation binding (GO:0035098) | • negative regulation of transcription, DNA-templated (GO:0045892) |
| • negative regulation of transcription by RNA polymerase II (GO:1903508) |
Pathways
• PRC2-mediated H3K27me3 (Reactome: R-HSA-212300)
• Chromatin modifying enzymes (Reactome: R-HSA-3247509)
• Transcriptional regulation by Polycomb group proteins (KEGG: hsa05202)
Protein Summary
PHF19 is a 580-amino-acid protein containing a PHD finger, a Tudor domain, and a coiled-coil region. The Tudor domain specifically binds H3K36me3, a mark associated with active transcription, allowing PHF19 to recruit PRC2 to these regions and switch them to a repressive H3K27me3 state. This activity is critical for maintaining cell identity and is often hijacked in cancer to silence tumor suppressors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHF19 Knockout HEK293 Cell Line | EDJ-KQ3128 | Human | 26147 | Details Get a Quote |
| PHF19 Knockout HCT 116 Cell Line | EDJ-KQ23112 | Human | 26147 | Details Get a Quote |
| PHF19 Knockout A-549 Cell Line | EDJ-KQ24493 | Human | 26147 | Details Get a Quote |
| PHF19 Knockout HeLa Cell Line | EDJ-KQ24495 | Human | 26147 | Details Get a Quote |
