gene

PHF6

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

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.

15Connections

0Hypotheses

0Analyses

7Outgoing

8Incoming

0Experiments

0Debates

Summary

PHD Finger Protein 6 - PHF6/BORCS2 - epigenetic reader protein with PHD zinc finger domains, implicated in Borjeson-Le syndrome, intellectual disability, and neurodevelopment

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🧬 Gene Info

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
Molecular Weight	76 kDa
Ensembl ID	ENSG00000156500
GeneCards	PHF6
Human Protein Atlas	PHF6
Tau PHF6 peptide	Residues 306-378, containing the PHF6 hexapeptide motif (^306VQIVYK^311 and ^313VT318^), the core aggregation-driving sequence in paired helical filaments[@bergqvist2008]
Alpha-synuclein NAC domain	Residues 61-95, the hydrophobic "Non-Aβ Component" region critical for fibril formation in Parkinson's disease[@han1995]
TDP-43 C-terminal domain	Residues 267-414, the prion-like domain that forms stress granules and aggregates in ALS and frontotemporal dementia[@johnson2009]
Full-length proteins	tau(2N4R), α-syn(1-140), TDP-43(1-414) for more physiologically relevant studies
Associated Diseases	neurodegeneration
Interactions	LRP1
KG Connections	15 knowledge graph edges
Databases	GeneCards UniProt NCBI Gene HPA STRING

Wiki Pages (3)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    PHF6["PHF6"]
    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:#e0e0e0

Outgoing (7)

Target	Relation	Type	Str
Als	therapeutic_target	disease	0.65
Leukemia	therapeutic_target	disease	0.65
Notch	therapeutic_target	pathway	0.60
Pi3K	associated_with	pathway	0.60
EP300	associated_with	gene	0.60
NOTCH1	therapeutic_target	gene	0.60
PIK3R1	associated_with	gene	0.60

Incoming (8)

Source	Relation	Type	Str
PIK3CA	associated_with	gene	0.60
IDH1	associated_with	gene	0.60
TP53	associated_with	gene	0.60
PI3K	associated_with	gene	0.60
DNMT3A	associated_with	gene	0.60
PTEN	associated_with	gene	0.60
FBXW7	therapeutic_target	gene	0.60
LRP1	interacts_with	gene	0.55

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning PHF6 in their description or question text

No additional research found