Gene
aco2
- ID
- ZDB-GENE-030131-1390
- Name
- aconitase 2, mitochondrial
- Symbol
- aco2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have 4 iron, 4 sulfur cluster binding activity and aconitate hydratase activity. Predicted to be involved in tricarboxylic acid cycle. Predicted to localize to cytosol and mitochondrion. Human ortholog(s) of this gene implicated in infantile cerebellar-retinal degeneration and optic atrophy 9. Is expressed in several structures, including adaxial cell; heart tube; musculature system; nervous system; and pronephric duct. Orthologous to human ACO2 (aconitase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb1017 (11 images)
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 |
|---|---|---|---|
| infantile cerebellar-retinal degeneration | Alliance | Infantile cerebellar-retinal degeneration | 614559 |
| optic atrophy 9 | Alliance | Optic atrophy 9 | 616289 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018136 | Aconitase family, 4Fe-4S cluster binding site |
| Domain | IPR000573 | Aconitase A/isopropylmalate dehydratase small subunit, swivel domain |
| Domain | IPR001030 | Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain |
| Family | IPR006248 | Aconitase, mitochondrial-like |
| Family | IPR050926 | Aconitase/IPM Isomerase |
| Homologous_superfamily | IPR015928 | Aconitase/3-isopropylmalate dehydratase, swivel |
| Homologous_superfamily | IPR015931 | Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 |
| Homologous_superfamily | IPR015932 | Aconitase, domain 2 |
| Homologous_superfamily | IPR036008 | Aconitase, iron-sulfur domain |
Domain Details Per Protein
| Protein | Length | Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain | Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 | Aconitase/3-isopropylmalate dehydratase, swivel | Aconitase A/isopropylmalate dehydratase small subunit, swivel domain | Aconitase, domain 2 | Aconitase family, 4Fe-4S cluster binding site | Aconitase/IPM Isomerase | Aconitase, iron-sulfur domain | Aconitase, mitochondrial-like |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q6PEI6
|
782 |
Interactions and Pathways
No data available
Plasmids
No data available