Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about VHL: 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.
VHL is a protein involved in neurodegeneration research. Key relationships include: activates, expressed in, contributes to. Associated with ALS, Als, Cancer. Connected to 191 entities in the SciDEX knowledge graph.
| Gene Symbol | VHL |
| Function | is an important component in the neurobiology of neurodegenerative diseases. |
| Primary Expression | most tissues: |
| Molecular Weight | 19.5 kDa |
| Pathways | Mtor, Pi3K, Dna Methylation, Akt, Angiogenesis |
| Ensembl ID | ENSG00000196511 |
| GeneCards | VHL |
| Human Protein Atlas | VHL |
| Normoxia | VHL binds to hydroxylated HIF-α (HIF1A/HIF2A), leading to polyubiquitination and degradation |
| Hypoxia | HIF-α escapes hydroxylation, escapes VHL-mediated degradation, and translocates to the nucleus |
| Target genes | VEGF, EPO, GLUT1, and other genes involved in oxygen homeostasis[@schofield2004] |
| Extracellular matrix maintenance | VHL regulates fibronectin matrix assembly |
| Microtubule stabilization | VHL interacts with microtubules |
| Ciliogenesis | VHL is required for primary cilia formation |
| DNA repair | VHL participates in DNA damage response[@gossage2010] |
| Associated Diseases | ALS, CLEAR CELL RENAL CELL CARCINOMA, Cancer, Carcinoma, Cardiovascular |
| Interactions | MTOR, PI3K, AKT, PPP1CA, BAX, VEGF |
| KG Connections | 283 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
Knowledge base pages for this entity
graph TD
VHL["VHL"]
VHL -->|"regulates"| HIF["HIF"]
VHL -->|"activates"| Cardiovascular["Cardiovascular"]
VHL -->|"activates"| Cardiac["Cardiac"]
VHL -->|"activates"| Tumor["Tumor"]
VHL -->|"activates"| Ms["Ms"]
VHL -->|"expressed in"| Cancer["Cancer"]
VHL -->|"expressed in"| Carcinoma["Carcinoma"]
VHL -->|"regulates"| Als["Als"]
TCEB1["TCEB1"] -->|"interacts"| VHL
MTOR["MTOR"] -->|"activates"| VHL
IDH1["IDH1"] -->|"activates"| VHL
PI3K["PI3K"] -->|"expressed in"| VHL
DNA["DNA"] -->|"expressed in"| VHL
NRF2["NRF2"] -->|"expressed in"| VHL
KEAP1["KEAP1"] -->|"expressed in"| VHL
P53["P53"] -->|"expressed in"| VHL
AKT["AKT"] -->|"expressed in"| VHL| Target | Relation | Type | Str |
|---|---|---|---|
| Clear-Cell Renal Cell Carcinoma | associated_with | disease | 0.95 |
| Clear Cell Renal Cell Carcinoma | risk_factor_for | disease | 0.95 |
| Clear Cell Renal Cell Carcinoma | drives | disease | 0.95 |
| HIF | degrades | protein | 0.95 |
| HIF1A | degrades | protein | 0.93 |
| Proteolysis | mediates | process | 0.90 |
| kidney tumorigenesis | protects_against | process | 0.90 |
| VHL-Loss-Driven phenotype | mediates | phenotype | 0.90 |
| CANCER | activates | gene | 0.90 |
| Tumor | activates | disease | 0.85 |
| Cancer | activates | disease | 0.85 |
| Carcinoma | activates | disease | 0.85 |
| Als | activates | disease | 0.85 |
| PBRM1 | associated_with | gene | 0.85 |
| Kidney Cancer | causes | disease | 0.80 |
| CLEAR CELL RENAL CELL CARCINOMA | causes | disease | 0.80 |
| Mtor | activates | pathway | 0.80 |
| HIF | activates | gene | 0.80 |
| MTOR | activates | protein | 0.76 |
| MTOR Pathway Activity | associated_with | process | 0.75 |
| Als | therapeutic_target | disease | 0.75 |
| Tumor | therapeutic_target | disease | 0.75 |
| Tumor | inhibits | disease | 0.75 |
| Cancer | causes | disease | 0.75 |
| Renal Cell Carcinoma | activates | disease | 0.75 |
| mTOR | activates | protein | 0.75 |
| HIF | regulates | protein | 0.72 |
| AKT | activates | gene | 0.70 |
| AKT | contributes_to | gene | 0.70 |
| CANCER | causes | gene | 0.70 |
| Cancer | associated_with | disease | 0.65 |
| Cardiovascular | activates | disease | 0.65 |
| Carcinoma | associated_with | disease | 0.65 |
| Cardiac | activates | disease | 0.65 |
| Ms | activates | disease | 0.65 |
| Cancer | expressed_in | disease | 0.65 |
| Carcinoma | expressed_in | disease | 0.65 |
| Tumor | expressed_in | disease | 0.65 |
| Als | regulates | disease | 0.65 |
| Cardiovascular | associated_with | disease | 0.65 |
| Tumor | associated_with | disease | 0.65 |
| Tumor | regulates | disease | 0.65 |
| Ischemia | activates | disease | 0.65 |
| Stroke | activates | disease | 0.65 |
| Cancer | therapeutic_target | disease | 0.65 |
| Als | expressed_in | disease | 0.65 |
| Ms | interacts_with | disease | 0.65 |
| Ms | inhibits | disease | 0.65 |
| Tumor | causes | disease | 0.65 |
| Carcinoma | causes | disease | 0.65 |
| Source | Relation | Type | Str |
|---|---|---|---|
| ELOC | interacts_with | protein | 0.90 |
| PBRM1 | interacts_with | protein | 0.75 |
| PTEN | contributes_to | gene | 0.70 |
| TCEB1 | interacts_with | gene | 0.64 |
| MTOR | activates | gene | 0.60 |
| STAT3 | associated_with | gene | 0.60 |
| IDH1 | activates | gene | 0.60 |
| PI3K | expressed_in | gene | 0.60 |
| MTOR | expressed_in | gene | 0.60 |
| NRF2 | expressed_in | gene | 0.60 |
| KEAP1 | expressed_in | gene | 0.60 |
| AKT | expressed_in | gene | 0.60 |
| CUL3 | expressed_in | gene | 0.60 |
| STK11 | contributes_to | gene | 0.60 |
| PI3K | contributes_to | gene | 0.60 |
| AKT | contributes_to | gene | 0.60 |
| PTEN | implicated_in | gene | 0.60 |
| GAIN | causes | gene | 0.60 |
| SQSTM1 | interacts_with | gene | 0.60 |
| BECLIN1 | inhibits | gene | 0.60 |
| ARID1A | contributes_to | gene | 0.60 |
| PIEZO1 | therapeutic_target | gene | 0.60 |
| JAK2 | therapeutic_target | gene | 0.60 |
| UBIQUITIN | activates | gene | 0.60 |
| MDM2 | interacts_with | gene | 0.60 |
| MDM2 | regulates | gene | 0.60 |
| PHD2 | interacts_with | gene | 0.60 |
| VEGF | activates | gene | 0.60 |
| SNF | causes | gene | 0.60 |
| SWI | causes | gene | 0.60 |
| HIF1 | associated_with | gene | 0.60 |
| DNA | expressed_in | gene | 0.60 |
| P53 | expressed_in | gene | 0.60 |
| GENES | contributes_to | gene | 0.60 |
| HIF | causes | gene | 0.60 |
| CANCER | causes | gene | 0.60 |
| TCEB1 | causes | gene | 0.60 |
| CANCER | expressed_in | gene | 0.60 |
| ATG14L | inhibits | gene | 0.60 |
| INSULIN RESISTANCE | activates | gene | 0.60 |
| ACETYL-COA | contributes_to | gene | 0.60 |
| AND | associated_with | gene | 0.60 |
| PBRM1 | causes | gene | 0.60 |
| AND | causes | gene | 0.60 |
| RNA | expressed_in | gene | 0.60 |
| AND | expressed_in | gene | 0.60 |
| RNA | contributes_to | gene | 0.60 |
| AND | contributes_to | gene | 0.60 |
| CANCER | activates | gene | 0.60 |
| ACLY | activates | gene | 0.60 |
Hypotheses 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 | ||||