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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:0002305 | Athetosis |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0003593 | Infantile onset |
| HP:0003621 | Juvenile onset |
| HP:0004325 | Decreased body weight |
| HP:0007108 | Demyelinating peripheral neuropathy |
| HP:0007359 | Focal-onset seizure |
| HP:0007663 | Reduced visual acuity |
| HP:0010864 | Intellectual disability, severe |
| HP:0011344 | Severe global developmental delay |
| 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 |
|---|---|---|---|
| 176121 | WB:WBGene00000041 | ||
| 41326 | FB:FBgn0037862 | ||
| 44149 | FB:FBgn0010100 | ||
| 103189232 | CALMI40993 | ||
| 322670 | ZFIN:ZDB-GENE-030131-1390 | DANRE45736 | |
| 103029821 | ASTMX07738 | ||
| 103031515 | ASTMX14322 | ||
| 108273913 | ICTPU05126 | ||
| 113574872 | ELEEL17037 | ||
| 113584853 | ELEEL34038 |
