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

0Debates

No summary available yet.

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🧬 Gene Info

Gene Symbol	AFG3L2
Full Name	AFG3 ATPase Family Member 2
Chromosome	18p11.21
Protein Type	Protease
Function	AFG3L2 encodes a mitochondrial matrix ATP-dependent metalloprotease that is part of the m-AAA protease complex
Subcellular Localization	Primary: Mitochondrial inner membrane
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
AFG3L1	Paralog in humans (forms heteromeric complexes with AFG3L2)
YME1L1	Another mitochondrial AAA protease
Associated Diseases	Autosomal Recessive Ataxia
KG Connections	6 knowledge graph edges
Databases	GeneCards NCBI Gene HPA STRING

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

AFG3L2 Gene

gene · 1120 words

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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)

Target	Relation	Type	Str
benchmark_ot_ad_answer_key:AFG3L2	data_in	dataset_row	0.00
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

Incoming (1)

Source	Relation	Type	Str
benchmark_ot_ad_answer_key:AFG3L2	data_in	dataset_row	0.00

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
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

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning afg3l2 in their description or question text

No additional research found