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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:0110462 | autosomal recessive nonsyndromic deafness 101 | |
| DOID:0050564 | autosomal dominant nonsyndromic deafness | |
| DOID:0050565 | autosomal recessive nonsyndromic deafness | |
| DOID:0050566 | X-linked nonsyndromic deafness | |
| DOID:0050589 | inflammatory bowel disease | |
| DOID:0050883 | infantile cerebellar-retinal degeneration | |
| DOID:0060192 | Crohn's colitis | |
| DOID:0060690 | autosomal dominant auditory neuropathy 1 | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:0060891 | Parkinson's disease 19A |
- 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 |
|---|---|---|---|
| 113489695 | ATHCN06315 | ||
| 105805250 | PROCO15718 | ||
| 851013 | SGD:S000004295 | ||
| 109048926 | CYPCA113033 | ||
| 103743476 | NANGA07118 | ||
| 116442391 | CORMO20239 | ||
| 115605027 | STRHB22599 |
