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MIRAGE
aconitase 2
Summary
- Gene Symbol
-
- ACO2
- Aliases
-
- ACONM
- aconitate hydratase, mitochondrial
- mitochondrial aconitase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 4Fe-4S
- Acetylation
- Direct protein sequencing
- Disease variant
- Lyase
- Mitochondrion
- Neurodegeneration
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Transit peptide
- Tricarboxylic acid cycle
- Proteins
| UniProt | Protein Name |
|---|---|
| Q99798 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| generation of precursor metabolites and energy |
|
|
| tricarboxylic acid cycle |
|
|
| tricarboxylic acid cycle |
|
|
| tricarboxylic acid cycle |
|
|
| citrate metabolic process |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrion |
|
|
| mitochondrion |
|
|
| mitochondrion |
|
|
| mitochondrion |
|
|
| mitochondrion |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| aconitate hydratase activity |
|
|
| aconitate hydratase activity |
|
|
| iron ion binding |
|
|
| iron ion binding |
|
|
| 4 iron, 4 sulfur cluster binding |
|
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Aconitate hydratase
- Functional Category
-
- C: Energy production and conversion
- E: Amino acid transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| 4 iron, 4 sulfur cluster binding |
| iron-sulfur cluster binding |
| lyase activity |
| metal ion binding |
| tricarboxylic acid cycle |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050883 | infantile cerebellar-retinal degeneration | |
| DOID:0111442 | optic atrophy 9 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000253 | Progressive microcephaly |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000505 | Visual impairment |
| HP:0000543 | Optic disc pallor |
| HP:0000556 | Retinal dystrophy |
| HP:0000639 | Nystagmus |
| HP:0000642 | Red-green dyschromatopsia |
| Disease ID | Disease Name |
|---|---|
| OMIM:616289 |
|
| OMIM:614559 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources |
|---|---|---|
| 79250 | RGD:621360 | |
| 851013 | SGD:S000004295 |
