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Details of MRPS22 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| MRPS22 | C3orf5,RPMS22 | P82650 | RT22_HUMAN | 56945 | ENSG00000175110 | 28S ribosomal protein S22, mitochondrial | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Combined oxidative phosphorylation deficiency 5 (COXPD5) [MIM:611719]: A mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia. Note=The disease is caused by mutations affecting the gene represented in this entry. ----------------------------------------------------------------------- Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms Distributed under the Creative Commons Attribution-NoDerivs License ----------------------------------------------------------------------- | 611719 | ||||||||
Phenotypes
Abnormality of acid-base homeostasis, Abnormality of fluid regulation, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of prenatal development or birth, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the amniotic fluid, Abnormality of the cardiovascular system, Abnormality of the genitourinary system, Abnormality of the heart, Abnormality of the musculature, Abnormality of the myocardium, Abnormality of the nervous system, Abnormality of the urinary system, Abnormal muscle tone, Acidosis, All, Ascites, Autosomal recessive inheritance, Cardiomyopathy, Diminished movement, Edema, Hypertrophic cardiomyopathy, Hypokinesia, Increased serum lactate, Malformation of the heart and great vessels, Mitochondrial inheritance, Mode of inheritance, Muscular hypotonia, Phenotypic abnormality.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Mrps22 | mRpS22 | mrps-22 | SPU_017055 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| MRPS22 | PTCD3 | 0.962985789 | MRPS22 | PTCD3 | cpx21 | no | no | no | Novel |
| MRPS22 | MRPS18B | 0.9684182 | MRPS22 | MRPS18B | cpx21 | no | no | no | Novel |
| MRPS26 | MRPS22 | 0.985947215 | MRPS26 | MRPS22 | cpx736 | no | yes | no | Known |
| MRPS27 | MRPS22 | 0.989851097 | MRPS27 | MRPS22 | cpx21 | no | no | no | Novel |
| DAP3 | MRPS22 | 0.980381474 | DAP3 | MRPS22 | cpx21 | no | no | no | Novel |
| MRPS2 | MRPS22 | 0.967079179 | MRPS2 | MRPS22 | cpx21 | no | no | no | Novel |
| MRPS9 | MRPS22 | 0.983641447 | MRPS9 | MRPS22 | cpx21 | no | yes | no | Known |
| MRPS28 | MRPS22 | 0.965318836 | MRPS28 | MRPS22 | cpx21 | no | no | no | Novel |
| MRPS22 | MRPS23 | 0.984892744 | MRPS22 | MRPS23 | cpx21 | no | no | no | Novel |
| MRPS22 | MRPS35 | 0.942187324 | MRPS22 | MRPS35 | cpx21 | no | yes | no | Known |