AFG3L2
AFG3L2 Gene Summary
This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | AFG3L2 |
| Official Name | AFG3 like matrix AAA peptidase subunit 2 [Source:HGNC Symbol;Acc:HGNC:315] |
| Ensembl ID | ENSG00000141385 |
| Bio databases IDs | |
| Aliases | AFG3 like matrix AAA peptidase subunit 2 |
| Synonyms | 2310036I02RIK,AFG3-like AAA ATPase 2,AFG3 like matrix AAA peptidase subunit 2,Emv66,LOC102642902,OPA12,par,SCA28,SPAX5 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- peptidase
- Peptidase family M41
- protein binding
- AAA+ lid domain
- ATPase
- AAA domain
- AAA domain (dynein-related subfamily)
- metallopeptidase
- ATPase family associated with various cellular activities (AAA)
- ATP-dependent metalloprotease FtsH
- FtsH Extracellular
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
- transporter
- metalloendopeptidase
Pathways
Biological processes and signaling networks where the AFG3L2 gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- HSP90AB1
- AHCTF1
- SSBP1
- MFSD4A
- MCUR1
- LAMTOR1
- FGFR3
- TMPRSS11B
- CDC123
- MLLT3
disease
- optic atrophy type 12
- autosomal recessive spastic ataxia type 5
- spinocerebellar ataxia type 28
- glycogen storage disease type III
- optic atrophy
- hereditary spastic ataxia
- infection by HIV-1
regulated by
- RYR1
- AKT
- MCU
- PHB1
- FOSL1
- NTN1
regulates
- Ca2+
- glutathione
- FDX1
- reactive oxygen species
- OPA1
- SMDT1
- SPG7
- SLC25A39
role in cell
- degradation in
- accumulation in
- fusion
- formation
- organization
- response by
- development
- turnover in
- maturation in
- stabilization in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- pH resistant lipid raft fraction
- Mitochondria
- mitochondrial inner membrane
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the AFG3L2 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- regulation of multicellular organism growth
- righting reflex
- cristae formation
- protein catabolic process
- mitochondrial fusion
- muscle cell development
- myelination
- nerve development
- neuromuscular junction development
- axonogenesis
- proteolysis
- mitochondrial calcium ion homeostasis
- membrane protein proteolysis
- protein maturation
- protein processing
- protein autoprocessing
- mitochondrial protein processing
CELLULAR COMPONENT
Where in the cell the gene product is active
- m-AAA complex
- mitochondrion
- mitochondrial inner membrane
MOLECULAR FUNCTION
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- zinc ion binding
- protein binding
- unfolded protein binding
- ATP-dependent peptidase activity
- metalloendopeptidase activity
- metallopeptidase activity