gene

SPG21

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

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.

15Connections
0Hypotheses
0Analyses
7Outgoing
8Incoming
0Experiments

Summary

SPG21 encodes maspardin, an ESCRT-associated protein involved in endosomal trafficking, autophagy, and neuroprotection. Mutations cause autosomal recessive hereditary spastic paraplegia (SPG21/Mast syndrome).

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🧬 Gene Info
Gene SymbolSPG21
Full NameSpastic Paraplegia 21 (Maspardin)
AliasesSPG21/Mast syndrome
Chromosome15q22.31
Protein FamilyAlpha/beta hydrolase fold family
Protein TypeHydrolase
Functionis a gene that encodes a crucial protein involved in endosomal trafficking, autophagy, and synaptic vesicle dynamics.
Molecular Weight35 kDa
Amino Acids311 aa
Exons11
PathwaysMtor
UniProt ID[Q9BRK0](https://www.uniprot.org/uniprot/Q9BRK0)
Ensembl IDENSG00000046753
GeneCardsSPG21
Human Protein AtlasSPG21
Associated Diseasesneurodegeneration
InteractionsFYCO1, TFEB, RAB7A, MTORC1, MTOR, ENDOSOMES
KG Connections15 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

Wiki Pages (3)

Knowledge base pages for this entity

Canonical Page

SPG21 Gene

gene · 1880 words

hereditary-spastic-paraplegia

disease · 2618 words

Genes

index · 271 words

Pathway Diagram

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:#e0e0e0

Outgoing (7)

TargetRelationTypeStr
FYCO1interacts_withgene0.60
TFEBregulatesgene0.60
TFEBactivatesgene0.60
RAB7Aactivatesgene0.60
Mtorinteracts_withpathway0.60

Incoming (8)

SourceRelationTypeStr
RAB7regulatesgene0.60
MTORinteracts_withgene0.60
TFEBactivatesgene0.60
RAB7Aactivatesgene0.60
ENDOSOMESinteracts_withgene0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
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

ExperimentTypeDiseaseScoreFeasibilityModelStatusEst. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
No papers found