Entity Detail — Knowledge Graph Node
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.
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| Gene Symbol | AFG3L2 |
| Full Name | AFG3 ATPase Family Member 2, Mitochondrial |
| Chromosome | 18p11.21 |
| Protein Type | Protease |
| Function | AFG3L2 encodes a mitochondrial matrix ATP-dependent metalloprotease that is part of the m-AAA protease complex |
| Molecular Weight | 79.5 kDa |
| Amino Acids | 684 aa |
| UniProt ID | [Q9H045](https://www.uniprot.org/uniprot/Q9H045) |
| Ensembl ID | ENSG00000135740 |
| OMIM | 607051 |
| GeneCards | AFG3L2 |
| Human Protein Atlas | AFG3L2 |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsNCBI GeneHPASTRING |
Knowledge base pages for this entity
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| Target | Relation | Type | Str |
|---|---|---|---|
| Autosomal Recessive Ataxia | causes | disease | 0.90 |
| GDAP1 | associated_with | gene | 0.60 |
| MFSD8 | associated_with | gene | 0.60 |
| SETX | associated_with | gene | 0.60 |
| benchmark_ot_ad_answer_key:AFG3L2 | data_in | dataset_row | 0.00 |
| Source | Relation | Type | Str |
|---|---|---|---|
| benchmark_ot_ad_answer_key:AFG3L2 | data_in | dataset_row | 0.00 |
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
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 | ||||