Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about PHF6: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
PHD Finger Protein 6 - PHF6/BORCS2 - epigenetic reader protein with PHD zinc finger domains, implicated in Borjeson-Le syndrome, intellectual disability, and neurodevelopment
| Gene Symbol | PHF6 |
| Full Name | PHD Finger Protein 6 |
| Function | This allows PHF6 to function as a "reader" of the histone code, translating epigenetic marks into transcriptional outcomes. |
| Primary Expression | human tissues, with high expression in the brain, particularly during development |
| Subcellular Localization | **Nucleus**: Predominantly nuclear, with enrichment in certain nuclear compartments |
| Molecular Weight | 76 kDa |
| Ensembl ID | ENSG00000156500 |
| GeneCards | PHF6 |
| Human Protein Atlas | PHF6 |
| PHD Zinc Finger Domains | Two PHD-type zinc fingers at the C-terminus that function as epigenetic reader modules |
| N-terminal Region | Contains regions of low complexity and potential regulatory sequences |
| Nuclear Localization | The protein contains nuclear localization signals that target it to the nucleus |
| Nucleus | Predominantly nuclear, with enrichment in certain nuclear compartments |
| Chromatin-associated | Direct association with chromatin |
| Cell type variability | Localization patterns may vary across cell types |
| Associated Diseases | neurodegeneration |
| Interactions | LRP1 |
| KG Connections | 15 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
Knowledge base pages for this entity
graph TD
PHF6["<b>PHF6</b>"]
Als{"Als"}
PHF6 -->|"therapeutic target"| Als
Leukemia{"Leukemia"}
PHF6 -->|"therapeutic target"| Leukemia
EP300["EP300"]
PHF6 -->|"associated with"| EP300
NOTCH1["NOTCH1"]
PHF6 -->|"therapeutic target"| NOTCH1
PIK3R1["PIK3R1"]
PHF6 -->|"associated with"| PIK3R1
Notch(["Notch"])
PHF6 -->|"therapeutic target"| Notch
Pi3K(["Pi3K"])
PHF6 -->|"associated with"| Pi3K
neurodegeneration["neurodegeneration"]
PHF6 -->|"implicated in"| neurodegeneration
PIK3CA["PIK3CA"]
PIK3CA -->|"associated with"| PHF6
IDH1["IDH1"]
IDH1 -->|"associated with"| PHF6
TP53["TP53"]
TP53 -->|"associated with"| PHF6
PI3K["PI3K"]
PI3K -->|"associated with"| PHF6
FBXW7["FBXW7"]
FBXW7 -->|"therapeutic target"| PHF6
DNMT3A["DNMT3A"]
DNMT3A -->|"associated with"| PHF6
PTEN["PTEN"]
PTEN -->|"associated with"| PHF6
style PHF6 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||