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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:0110555 | autosomal dominant nonsyndromic deafness 25 | |
| DOID:0110556 | autosomal dominant nonsyndromic deafness 27 | |
| DOID:0110557 | autosomal dominant nonsyndromic deafness 28 | |
| DOID:0110558 | autosomal dominant nonsyndromic deafness 2A | |
| DOID:0110559 | autosomal dominant nonsyndromic deafness 2B | |
| DOID:0110560 | autosomal dominant nonsyndromic deafness 30 | |
| DOID:0110561 | autosomal dominant nonsyndromic deafness 31 | |
| DOID:0110562 | autosomal dominant nonsyndromic deafness 33 | |
| DOID:0110563 | autosomal dominant nonsyndromic deafness 36 | |
| DOID:0110564 | autosomal dominant nonsyndromic deafness 3A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000648 | Optic atrophy |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001265 | Hyporeflexia |
| HP:0001272 | Cerebellar atrophy |
| HP:0001284 | Areflexia |
| HP:0001508 | Failure to thrive |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002120 | Cerebral cortical atrophy |
| 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 |
|---|---|---|---|
| 113489695 | ATHCN06315 | ||
| 105805250 | PROCO15718 | ||
| 851013 | SGD:S000004295 | ||
| 109048926 | CYPCA113033 | ||
| 103743476 | NANGA07118 | ||
| 116442391 | CORMO20239 | ||
| 115605027 | STRHB22599 |
