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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- Reference proteome
- Transit peptide
- Tricarboxylic acid cycle
- Proteins
| UniProt | Protein Name |
|---|---|
| Q99798 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| citrate metabolic process | ||
| isocitrate metabolic process | ||
| response to isolation stress | ||
| liver development | ||
| generation of precursor metabolites and energy |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytosol | ||
| mitochondrial matrix |
|
|
| mitochondrion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| 4 iron, 4 sulfur cluster binding | ||
| 3 iron, 4 sulfur cluster binding | ||
| aconitate hydratase activity | ||
| iron ion binding |
GO Hierarchy
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:11661 | blue color blindness | |
| DOID:11771 | spontaneous ocular nystagmus | |
| DOID:11832 | visual epilepsy | |
| DOID:11870 | Pick's disease | |
| DOID:1209 | nutritional optic neuropathy | |
| DOID:12123 | postinflammatory pulmonary fibrosis | |
| DOID:12705 | Friedreich ataxia | |
| DOID:12716 | newborn respiratory distress syndrome | |
| DOID:12858 | Huntington's disease | |
| DOID:1289 | neurodegenerative disease |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002305 | Athetosis |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0003593 | Infantile onset |
| HP:0003621 | Juvenile onset |
| HP:0004325 | Decreased body weight |
| HP:0007108 | Demyelinating peripheral neuropathy |
| HP:0007359 | Focal-onset seizure |
| HP:0007663 | Reduced visual acuity |
| HP:0010864 | Intellectual disability, severe |
| HP:0011344 | Severe global developmental delay |
| Disease ID | Disease Name |
|---|---|
| OMIM:614559 |
|
| OMIM:616289 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 444692 | Xenbase:XB-GENE-1000791 | ||
| 496933 | Xenbase:XB-GENE-1000785 | ||
| 101942297 | CHRPI06402 | ||
| 109316732 | CROPO05915 | ||
| 113434083 | PSETE00357 | ||
| 103813297 | SERCA05856 | ||
| 100086732 | ORNAN06406 | ||
| 100923013 | SARHA03485 | ||
| 103113871 | ERIEU11915 | ||
| 105572378 | CERAT36748 |
