Gene
afg3l2
- ID
- ZDB-GENE-070912-46
- Name
- AFG3-like AAA ATPase 2
- Symbol
- afg3l2 Nomenclature History
- Previous Names
-
- si:ch211-12e1.4 (1)
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable metalloendopeptidase activity. Predicted to be involved in mitochondrial protein processing. Predicted to act upstream of or within proteolysis. Predicted to be located in membrane. Predicted to be part of m-AAA complex. Human ortholog(s) of this gene implicated in optic atrophy 12; spastic ataxia; spastic ataxia 5; and spinocerebellar ataxia type 28. Orthologous to human AFG3L2 (AFG3 like matrix AAA peptidase subunit 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Chen et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| optic atrophy 12 | Alliance | Optic atrophy 12 | 618977 |
| spastic ataxia 5 | Alliance | Spastic ataxia 5, autosomal recessive | 614487 |
| spinocerebellar ataxia type 28 | Alliance | Spinocerebellar ataxia 28 | 610246 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR003960 | ATPase, AAA-type, conserved site |
| Domain | IPR000642 | Peptidase M41 |
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR003959 | ATPase, AAA-type, core |
| Domain | IPR011546 | Peptidase M41, FtsH extracellular |
| Domain | IPR041569 | AAA ATPase, AAA+ lid domain |
| Family | IPR005936 | ATP-dependent zinc metalloprotease, FtsH |
| Family | IPR050928 | ATP-dependent Zinc Metalloprotease |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR037219 | Peptidase M41-like |
Domain Details Per Protein
| Protein | Length | AAA ATPase, AAA+ lid domain | AAA+ ATPase domain | ATPase, AAA-type, conserved site | ATPase, AAA-type, core | ATP-dependent Zinc Metalloprotease | ATP-dependent zinc metalloprotease, FtsH | Peptidase M41 | Peptidase M41, FtsH extracellular | Peptidase M41-like | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A9JRG9
|
800 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
afg3l2-201
(1)
|
Ensembl | 3,457 nt |
Interactions and Pathways
No data available
Plasmids
No data available