Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about FA2H: 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.
FA2H is a gene implicated in neurodegeneration research. Key relationships include: associated with, implicated in. Associated with Dystonia, Ms, Neurodegeneration. Connected to 15 entities in the SciDEX knowledge graph.
| Gene Symbol | FA2H |
| Chromosome | 16q23.1 |
| Function | Fa2H Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. |
| Subcellular Localization | to the endoplasmic reticulum (ER) membrane in myelinating cells including oligod |
| Amino Acids | 383 aa |
| Exons | 13 |
| Pathways | Lipid Metabolism, Mitophagy, Autophagy |
| GeneCards | FA2H |
| Human Protein Atlas | FA2H |
| Lipid Type | Structure |
| 2-OH galactosylceramide | Galactose-2-OH FA-ceramide |
| 2-OH glucosylceramide | Glucose-2-OH FA-ceramide |
| 2-OH sulfatide | Sulfate-2-OH FA-ceramide |
| 2-OH ceramide | Base-2-OH FA |
| Variant Type | Effect |
| Associated Diseases | ALS, Dystonia, Ms, Neurodegeneration, Parkinson |
| Interactions | FTL, PANK2, PLA2G6, WDR45, ATP13A2, CP |
| KG Connections | 27 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
Knowledge base pages for this entity
graph TD
FA2H["<b>FA2H</b>"]
Neurodegeneration{"Neurodegeneration"}
FA2H -->|"associated with"| Neurodegeneration
Ms{"Ms"}
FA2H -->|"associated with"| Ms
Parkinson{"Parkinson"}
FA2H -->|"associated with"| Parkinson
Dystonia{"Dystonia"}
FA2H -->|"associated with"| Dystonia
C19ORF12["C19ORF12"]
FA2H -->|"associated with"| C19ORF12
PANK2["PANK2"]
FA2H -->|"associated with"| PANK2
PLA2G6["PLA2G6"]
FA2H -->|"associated with"| PLA2G6
Lipid_Metabolism(["Lipid Metabolism"])
FA2H -->|"associated with"| Lipid_Metabolism
Mitophagy(["Mitophagy"])
FA2H -->|"associated with"| Mitophagy
Autophagy(["Autophagy"])
FA2H -->|"associated with"| Autophagy
neurodegeneration["neurodegeneration"]
FA2H -->|"implicated in"| neurodegeneration
FTL["FTL"]
FTL -->|"associated with"| FA2H
WDR45["WDR45"]
WDR45 -->|"associated with"| FA2H
COASY["COASY"]
COASY -->|"associated with"| FA2H
DCAF17["DCAF17"]
DCAF17 -->|"associated with"| FA2H
style FA2H fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0| Target | Relation | Type | Str |
|---|---|---|---|
| Neurodegeneration | associated_with | disease | 0.65 |
| Ms | associated_with | disease | 0.65 |
| Parkinson | associated_with | disease | 0.65 |
| Dystonia | associated_with | disease | 0.65 |
| C19ORF12 | associated_with | gene | 0.60 |
| PANK2 | associated_with | gene | 0.60 |
| PLA2G6 | associated_with | gene | 0.60 |
| neurodegeneration | associated_with | disease | 0.60 |
| neurodegeneration | interacts_with | disease | 0.60 |
| FTL | interacts_with | gene | 0.60 |
| PANK2 | interacts_with | gene | 0.60 |
| PLA2G6 | interacts_with | gene | 0.60 |
| WDR45 | interacts_with | gene | 0.60 |
| Lipid Metabolism | associated_with | pathway | 0.60 |
| Mitophagy | associated_with | pathway | 0.60 |
| Autophagy | associated_with | pathway | 0.60 |
| ALS | associated_with | disease | 0.60 |
| PANK2 | co_expressed_with | gene | 0.50 |
| PLA2G6 | co_expressed_with | gene | 0.50 |
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 | ||||