gene

afg3l2

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about afg3l2: 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.

6Connections
0Hypotheses
0Analyses
5Outgoing
1Incoming
0Experiments

No summary available yet. View on Wiki →

🧬 Gene Info
Gene SymbolAFG3L2
Full NameAFG3 ATPase Family Member 2, Mitochondrial
Chromosome18p11.21
Protein TypeProtease
FunctionAFG3L2 encodes a mitochondrial matrix ATP-dependent metalloprotease that is part of the m-AAA protease complex
Molecular Weight79.5 kDa
Amino Acids684 aa
UniProt ID[Q9H045](https://www.uniprot.org/uniprot/Q9H045)
Ensembl IDENSG00000135740
OMIM607051
GeneCardsAFG3L2
Human Protein AtlasAFG3L2
Associated Diseasesneurodegeneration
DatabasesGeneCardsNCBI GeneHPASTRING

Wiki Pages (14)

Knowledge base pages for this entity

Mitochondrial Quality Control

mechanism · 5069 words

YME1L1 Gene

gene · 3426 words

Mitochondrial Dynamics Dysfunction Hypothesis in Parkinson's Disease

hypothesis · 3069 words

spinocerebellar-ataxia

disease · 2304 words

OPA1 Protein — Optic Atrophy 1

protein · 2087 words

Pathway Diagram

flowchart TD
    AFG3L2["AFG3L2"] -->|"causes"| Autosomal_Recessive_Ataxia["Autosomal Recessive Ataxia"]
    AFG3L2["AFG3L2"] -->|"associated with"| GDAP1["GDAP1"]
    AFG3L2["AFG3L2"] -->|"associated with"| MFSD8["MFSD8"]
    AFG3L2["AFG3L2"] -->|"associated with"| SETX["SETX"]
    AFG3L2["AFG3L2"] -->|"implicated in"| neurodegeneration["neurodegeneration"]
    Neurodegeneration["Neurodegeneration"] -->|"regulates"| Apoptosis["Apoptosis"]
    Neurodegeneration["Neurodegeneration"] -->|"activates"| Mtor["Mtor"]
    Neurodegeneration["Neurodegeneration"] -->|"activates"| Autophagy["Autophagy"]
    Neurodegeneration["Neurodegeneration"] -->|"therapeutic target"| Blood_Brain_Barrier["Blood-Brain Barrier"]
    MFSD8["MFSD8"] -->|"causes"| Peripheral_Neuropathy["Peripheral Neuropathy"]
    MFSD8["MFSD8"] -->|"implicated in"| NEK1["NEK1"]
    MFSD8["MFSD8"] -->|"implicated in"| TBK1["TBK1"]
    MFSD8["MFSD8"] -->|"implicated in"| TBP["TBP"]
    Autosomal_Recessive_Ataxia["Autosomal Recessive Ataxia"] -->|"associated with"| Gait_Disturbance["Gait Disturbance"]
    Autosomal_Recessive_Ataxia["Autosomal Recessive Ataxia"] -->|"associated with"| Balance_Impairment["Balance Impairment"]
    style AFG3L2 fill:#4a1a6b,stroke:#333,color:#e0e0e0
    style Autosomal_Recessive_Ataxia fill:#ef5350,stroke:#333,color:#e0e0e0
    style GDAP1 fill:#4a1a6b,stroke:#333,color:#e0e0e0
    style MFSD8 fill:#4a1a6b,stroke:#333,color:#e0e0e0
    style SETX fill:#4a1a6b,stroke:#333,color:#e0e0e0
    style neurodegeneration fill:#006494,stroke:#333,color:#e0e0e0
    style Neurodegeneration fill:#ef5350,stroke:#333,color:#e0e0e0
    style Apoptosis fill:#1b5e20,stroke:#333,color:#e0e0e0
    style Mtor fill:#1b5e20,stroke:#333,color:#e0e0e0
    style Autophagy fill:#1b5e20,stroke:#333,color:#e0e0e0
    style Blood_Brain_Barrier fill:#1b5e20,stroke:#333,color:#e0e0e0
    style Peripheral_Neuropathy fill:#ef5350,stroke:#333,color:#e0e0e0
    style NEK1 fill:#4a1a6b,stroke:#333,color:#e0e0e0
    style TBK1 fill:#4a1a6b,stroke:#333,color:#e0e0e0
    style TBP fill:#4a1a6b,stroke:#333,color:#e0e0e0
    style Gait_Disturbance fill:#5d2900,stroke:#333,color:#e0e0e0
    style Balance_Impairment fill:#5d2900,stroke:#333,color:#e0e0e0

Outgoing (5)

TargetRelationTypeStr
Autosomal Recessive Ataxiacausesdisease0.90
GDAP1associated_withgene0.60
MFSD8associated_withgene0.60
SETXassociated_withgene0.60
benchmark_ot_ad_answer_key:AFG3L2data_indataset_row0.00

Incoming (1)

SourceRelationTypeStr
benchmark_ot_ad_answer_key:AFG3L2data_indataset_row0.00

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