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component of oligomeric golgi complex 6
Summary
- Gene Symbol
-
- COG6
- Aliases
-
- COD2
- KIAA1134
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Congenital disorder of glycosylation
- Disease variant
- Golgi apparatus
- Intellectual disability
- Membrane
- Protein transport
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9Y2V7 |
|
| A0A140VJG7 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi organization | ||
| protein transport | ||
| retrograde transport, vesicle recycling within Golgi | ||
| intra-Golgi vesicle-mediated transport | ||
| glycosylation |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| trans-Golgi network membrane |
|
|
| Golgi membrane | ||
| Golgi transport complex |
GO Hierarchy
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050428 | nonepidermolytic palmoplantar keratoderma | |
| DOID:0050571 | congenital disorder of glycosylation type II | |
| DOID:0070264 | congenital disorder of glycosylation type IIl | |
| DOID:0080470 | developmental and epileptic encephalopathy 36 | |
| DOID:10461 | dentin caries | |
| DOID:1059 | intellectual disability | |
| DOID:10907 | microcephaly | |
| DOID:10908 | hydrocephalus | |
| DOID:11155 | hypohidrosis | |
| DOID:11156 | anhidrosis |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000114 | Proximal tubulopathy |
| HP:0000122 | Unilateral renal agenesis |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000278 | Retrognathia |
| HP:0000286 | Epicanthus |
| HP:0000455 | Broad nasal tip |
| HP:0000648 | Optic atrophy |
| HP:0000670 | Carious teeth |
| Disease ID | Disease Name |
|---|---|
| ORPHA:363523 |
|
| OMIM:615328 |
|
| OMIM:614576 |
|
PubChem Disease
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 179201 | WB:WBGene00019481 | ||
| 35953 | FB:FBgn0033401 | ||
| 100183827 | CIOIN15256 | ||
| 103177180 | CALMI12399 | ||
| 102365287 | LATCH03337 | ||
| 393290 | ZFIN:ZDB-GENE-040426-909 | DANRE08377 | |
| 103033449 | ASTMX02245 | ||
| 108278222 | ICTPU10135 | ||
| 113578636 | ELEEL22408 | ||
| 115561456 | GADMO17881 |
