Metazoan complexes |
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Details of MT-CO2 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| MT-CO2 | COII,COXII,MTCO2 | P00403 | COX2_HUMAN | 4513 | ENSG00000198712 | Cytochrome c oxidase subunit 2 | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry. | 220110 |
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Mtco2 | mt:CoII | cox-2 | --- |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
CLTC | MT-CO2 | 0.259653278 | CLTC | MT-CO2 | cpx20; cpx7 | no | no | no | Novel |
ABCC1 | MT-CO2 | 0.032094429 | ABCC1 | MT-CO2 | cpx7 | no | no | no | Novel |
SLC25A3 | MT-CO2 | 0.200404598 | SLC25A3 | MT-CO2 | cpx20 | no | no | no | Novel |
CYC1 | MT-CO2 | 0.058771226 | CYC1 | MT-CO2 | cpx20 | no | yes | no | Known |
TUFM | MT-CO2 | 0.065454761 | TUFM | MT-CO2 | cpx20 | no | no | no | Novel |
RAB1B | MT-CO2 | 0.456463645 | RAB1B | MT-CO2 | cpx7 | no | no | no | Novel |
HSP90B1 | MT-CO2 | 0.084474495 | HSP90B1 | MT-CO2 | cpx7 | no | no | no | Novel |
RPN1 | MT-CO2 | 0.230115226 | RPN1 | MT-CO2 | cpx7 | no | no | no | Novel |
ATP1A1 | MT-CO2 | 0.061812013 | ATP1A1 | MT-CO2 | cpx7 | no | no | no | Novel |
TECR | MT-CO2 | 0.050595523 | TECR | MT-CO2 | cpx7 | no | no | no | Novel |
ATP5C1 | MT-CO2 | 0.20177436 | ATP5C1 | MT-CO2 | cpx7 | no | no | no | Novel |
CANX | MT-CO2 | 0.138600401 | CANX | MT-CO2 | cpx7; cpx20 | no | no | no | Novel |
MT-CO2 | COX4I1 | 0.240917555 | MT-CO2 | COX4I1 | cpx30 | no | no | no | Novel |
MT-CO2 | DDOST | 0.072473383 | MT-CO2 | DDOST | cpx7; cpx30 | no | no | no | Novel |
MT-CO2 | PHB2 | 0.02774319 | MT-CO2 | PHB2 | cpx30 | no | no | no | Novel |
MT-CO2 | PHB | 0.200401246 | MT-CO2 | PHB | cpx30 | no | yes | yes | Known |
MT-CO2 | UQCRC2 | 0.847943308 | MT-CO2 | UQCRC2 | cpx20; cpx7 | no | no | no | Novel |
MT-CO2 | SSR1 | 0.174569595 | MT-CO2 | SSR1 | cpx20 | no | no | no | Novel |
MT-CO2 | SSR4 | 0.203149436 | MT-CO2 | SSR4 | cpx7 | no | no | no | Novel |
MT-CO2 | VDAC1 | 0.241253244 | MT-CO2 | VDAC1 | cpx30 | no | no | no | Novel |
MT-CO2 | VDAC2 | 0.201029747 | MT-CO2 | VDAC2 | cpx30 | no | no | no | Novel |
MT-CO2 | VDAC3 | 0.227827923 | MT-CO2 | VDAC3 | cpx30 | no | no | no | Novel |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
---|---|---|---|---|
NDUFV2 | MT-CO2 | 0.07287918 | NDUFV2 | MT-CO2 |
ATP5F1 | MT-CO2 | 0.154681189 | ATP5F1 | MT-CO2 |
NDUFS1 | MT-CO2 | 0.091761078 | NDUFS1 | MT-CO2 |
ATP2B3 | MT-CO2 | 0.093155464 | ATP2B3 | MT-CO2 |
GPD2 | MT-CO2 | 0.091304347 | GPD2 | MT-CO2 |
COX5B | MT-CO2 | 0.07506709 | COX5B | MT-CO2 |
MT-CO2 | MAGT1 | 0.104130125 | MT-CO2 | MAGT1 |
SDHB | MT-CO2 | 0.143048654 | SDHB | MT-CO2 |