Metazoan complexes |
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Details of ACO2 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| ACO2 | --- | Q99798 | ACON_HUMAN | 50 | ENSG00000100412 | Aconitate hydratase, mitochondrial | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559]: A severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614559 |
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Aco2 | Acon... | aco-2 | Sp-Aco2 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
CKMT2 | ACO2 | 0.061327807 | CKMT2 | ACO2 | cpx119 | no | yes | no | Known |
CKMT1B | ACO2 | 0.051153045 | CKMT1B | ACO2 | cpx49 | no | yes | no | Known |
MYH7B | ACO2 | 0.465480854 | MYH7B | ACO2 | cpx49; cpx124 | no | no | no | Novel |
ACO2 | ALDOA | 0.579521549 | ACO2 | ALDOA | cpx49; cpx119 | no | yes | no | Known |
ACO2 | ALDOC | 0.581720606 | ACO2 | ALDOC | cpx49; cpx119 | no | yes | no | Known |
ACO2 | GPD1L | 0.86068652 | ACO2 | GPD1L | cpx119; cpx124; cpx49 | no | yes | no | Known |
ACO2 | GPD1 | 0.791423488 | ACO2 | GPD1 | cpx124 | no | yes | no | Known |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
---|---|---|---|---|
IDH3G | ACO2 | 0.622667081 | IDH3G | ACO2 |
ACO2 | ATP1B1 | 0.104081424 | ACO2 | ATP1B1 |
SOD2 | ACO2 | 0.152860655 | SOD2 | ACO2 |
ACO2 | ATP5F1 | 0.145349048 | ACO2 | ATP5F1 |
IDH3A | ACO2 | 0.209997002 | IDH3A | ACO2 |
ACO2 | ESD | 0.074088069 | ACO2 | ESD |
ACO2 | PITPNB | 0.070797366 | ACO2 | PITPNB |
ACO2 | VAPA | 0.333890951 | ACO2 | VAPA |
ACO2 | ALDH5A1 | 0.077110624 | ACO2 | ALDH5A1 |
ACO2 | ATP5J | 0.099680045 | ACO2 | ATP5J |
CKB | ACO2 | 0.085238117 | CKB | ACO2 |
ACO2 | GPD2 | 0.117554927 | ACO2 | GPD2 |