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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 |
|---|---|---|
| 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:0110505 | autosomal recessive nonsyndromic deafness 48 | |
| DOID:0110506 | autosomal recessive nonsyndromic deafness 49 | |
| DOID:0110507 | autosomal recessive nonsyndromic deafness 5 | |
| DOID:0110508 | autosomal recessive nonsyndromic deafness 51 | |
| DOID:0110509 | autosomal recessive nonsyndromic deafness 53 | |
| DOID:0110510 | autosomal recessive nonsyndromic deafness 55 | |
| DOID:0110511 | autosomal recessive nonsyndromic deafness 59 | |
| DOID:0110512 | autosomal recessive nonsyndromic deafness 6 | |
| DOID:0110513 | autosomal recessive nonsyndromic deafness 61 | |
| DOID:0110514 | autosomal recessive nonsyndromic deafness 62 |
- 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:614559 |
|
| OMIM:616289 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101925901 | MACFA00241 | ||
| 707441 | MACMU02722 | ||
| 105464375 | MACNE27189 | ||
| 101001219 | PAPAN11811 | ||
| 105538822 | MANLE01284 | ||
| 101126782 | GORGO23976 | ||
| 100986652 | PANPA23955 | ||
| 104003784 | PANTR26692 | ||
| 100444223 | PONAB22061 | ||
| 474487 | CANLF01566 |
