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 have ATP binding activity; metalloendopeptidase activity; and zinc ion binding activity. Predicted to be involved in several processes, including cristae formation; mitochondrial fusion; and mitochondrial protein processing. Predicted to localize to mitochondrial inner membrane. Human ortholog(s) of this gene implicated in 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