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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:0110495 | autosomal recessive nonsyndromic deafness 37 | |
| DOID:0110496 | autosomal recessive nonsyndromic deafness 38 | |
| DOID:0110497 | autosomal recessive nonsyndromic deafness 39 | |
| DOID:0110498 | autosomal recessive nonsyndromic deafness 4 | |
| DOID:0110499 | autosomal recessive nonsyndromic deafness 40 | |
| DOID:0110500 | autosomal recessive nonsyndromic deafness 42 | |
| DOID:0110501 | autosomal recessive nonsyndromic deafness 44 | |
| DOID:0110502 | autosomal recessive nonsyndromic deafness 45 | |
| DOID:0110503 | autosomal recessive nonsyndromic deafness 46 | |
| DOID:0110504 | autosomal recessive nonsyndromic deafness 47 |
- 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 |
|---|---|---|---|
| 112934061 | VULVU30102 | ||
| 123780757 | URSAM20114 | ||
| 100479955 | AILME02414 | ||
| 101682178 | MUSPF05375 | ||
| 101101395 | FELCA16340 | ||
| 122225177 | PANLE17809 | ||
| 101338166 | TURTR10714 | ||
| 118902121 | BALMU04460 | ||
| 100656628 | LOXAF04451 | ||
| 100055803 | HORSE25696 |
