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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: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: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 |
|---|---|---|---|
| 113152505 | ANATE29265 | ||
| 114605482 | PODMU34823 | ||
| 107554054 | SINGR66793 | ||
| 107584097 | SINGR13730 | ||
| 106845929 | EQUAS27881 | ||
| 116828855 | CHEAB07160 | ||
| 105298045 | PTEVA15043 | ||
| 115047889 | ECHNA49812 | ||
| 115059771 | ECHNA45599 | ||
| 115392963 | SALFA41408 |
