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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:0110465 | autosomal recessive nonsyndromic deafness 104 | |
| DOID:0110466 | obsolete autosomal recessive nonsyndromic deafness 105 | |
| DOID:0110467 | autosomal recessive nonsyndromic deafness 12 | |
| DOID:0110468 | autosomal recessive nonsyndromic deafness 13 | |
| DOID:0110469 | autosomal recessive nonsyndromic deafness 14 | |
| DOID:0110470 | autosomal recessive nonsyndromic deafness 15 | |
| DOID:0110471 | autosomal recessive nonsyndromic deafness 16 | |
| DOID:0110472 | autosomal recessive nonsyndromic deafness 17 | |
| DOID:0110473 | autosomal recessive nonsyndromic deafness 18A | |
| DOID:0110474 | autosomal recessive nonsyndromic deafness 18B |
- 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 |
|---|---|---|---|
| 112934061 | VULVU30102 | ||
| 123780757 | URSAM20114 | ||
| 100479955 | AILME02414 | ||
| 101682178 | MUSPF05375 | ||
| 101101395 | FELCA16340 | ||
| 122225177 | PANLE17809 | ||
| 101338166 | TURTR10714 | ||
| 118902121 | BALMU04460 | ||
| 100656628 | LOXAF04451 | ||
| 100055803 | HORSE25696 |
