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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:0110525 | autosomal recessive nonsyndromic deafness 77 | |
| DOID:0110526 | autosomal recessive nonsyndromic deafness 79 | |
| DOID:0110527 | autosomal recessive nonsyndromic deafness 8 | |
| DOID:0110528 | autosomal recessive nonsyndromic deafness 83 | |
| DOID:0110529 | autosomal recessive nonsyndromic deafness 84A | |
| DOID:0110530 | autosomal recessive nonsyndromic deafness 84B | |
| DOID:0110531 | autosomal recessive nonsyndromic deafness 85 | |
| DOID:0110532 | autosomal recessive nonsyndromic deafness 86 | |
| DOID:0110533 | autosomal recessive nonsyndromic deafness 88 | |
| DOID:0110534 | autosomal recessive nonsyndromic deafness 89 |
- 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 |
|---|---|---|---|
| 101592372 | OCTDE21109 | ||
| 101879995 | MELUD05995 | ||
| 100028766 | MONDO00531 | ||
| 102454888 | PELSI08738 | ||
| 100568244 | ANOCA06970 | ||
| 103674083 | URSMA21930 | ||
| 114051793 | VOMUR16892 | ||
| 113892172 | BOBOX41484 | ||
| 102019378 | CHILA04584 | ||
| 105733977 | AOTNA39880 |
