Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about SPG21: 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.
SPG21 encodes maspardin, an ESCRT-associated protein involved in endosomal trafficking, autophagy, and neuroprotection. Mutations cause autosomal recessive hereditary spastic paraplegia (SPG21/Mast syndrome).
| Gene Symbol | SPG21 |
| Full Name | Spastic Paraplegia 21 (Maspardin) |
| Aliases | SPG21/Mast syndrome |
| Chromosome | 15q22.31 |
| Protein Family | Alpha/beta hydrolase fold family |
| Protein Type | Hydrolase |
| Function | is a gene that encodes a crucial protein involved in endosomal trafficking, autophagy, and synaptic vesicle dynamics. |
| Molecular Weight | 35 kDa |
| Amino Acids | 311 aa |
| Exons | 11 |
| Pathways | Mtor |
| UniProt ID | [Q9BRK0](https://www.uniprot.org/uniprot/Q9BRK0) |
| Ensembl ID | ENSG00000046753 |
| GeneCards | SPG21 |
| Human Protein Atlas | SPG21 |
| Associated Diseases | neurodegeneration |
| Interactions | FYCO1, TFEB, RAB7A, MTORC1, MTOR, ENDOSOMES |
| KG Connections | 15 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
Knowledge base pages for this entity
graph TD
SPG21["<b>SPG21</b>"]
FYCO1["FYCO1"]
SPG21 -->|"interacts with"| FYCO1
TFEB["TFEB"]
SPG21 -->|"regulates"| TFEB
Mtor(["Mtor"])
SPG21 -->|"interacts with"| Mtor
SPG21 -->|"activates"| Mtor
neurodegeneration["neurodegeneration"]
SPG21 -->|"implicated in"| neurodegeneration
RAB7["RAB7"]
RAB7 -->|"regulates"| SPG21
MTOR["MTOR"]
MTOR -->|"interacts with"| SPG21
ENDOSOMES["ENDOSOMES"]
ENDOSOMES -->|"interacts with"| SPG21
MICROTUBULES["MICROTUBULES"]
MICROTUBULES -->|"interacts with"| SPG21
MTORC1["MTORC1"]
MTORC1 -->|"activates"| SPG21
TFEB -->|"activates"| SPG21
RAB7A["RAB7A"]
RAB7A -->|"activates"| SPG21
style SPG21 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
Experimental studies targeting or related to this entity
| Experiment | Type | Disease | Score | Feasibility | Model | Status | Est. Cost |
|---|---|---|---|---|---|---|---|
| No experiments found | |||||||
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||