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Metazoan complexes |
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Details of COG5 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| COG5 | GOLTC1,GTC90 | Q9UP83 | COG5_HUMAN | 10466 | ENSG00000164597 | Conserved oligomeric Golgi complex subunit 5 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Congenital disorder of glycosylation 2I (CDG2I) [MIM:613612]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Congenital disorder of glycosylation type 2I is characterized by mild neurological impairments. Note=The disease is caused by mutations affecting the gene represented in this entry. | 613612 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Cog5 | fws | cogc-5 | Sp-Cog5 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| COG5 | COG1 | 0.995112331 | COG5 | COG1 | cpx113 | yes | yes | no | Known |
| COG5 | COG3 | 0.159277101 | COG5 | COG3 | cpx113 | yes | yes | no | Known |
| COG5 | COG4 | 0.994992412 | COG5 | COG4 | cpx113 | yes | yes | yes | Known |
| COG5 | COG6 | 0.996999002 | COG5 | COG6 | cpx113 | yes | yes | no | Known |
| COG5 | COG7 | 0.995055926 | COG5 | COG7 | cpx113 | yes | yes | yes | Known |