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component of oligomeric golgi complex 8
Summary
- Gene Symbol
-
- COG8
- Aliases
-
- DOR1
- FLJ22315
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Congenital disorder of glycosylation
- Golgi apparatus
- Membrane
- Protein transport
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q96MW5 |
|
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 |
|
|
| membrane | ||
| Golgi apparatus | ||
| Golgi membrane | ||
| Golgi transport complex |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding |
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:0050570 | congenital disorder of glycosylation type I | |
| DOID:0050571 | congenital disorder of glycosylation type II | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0060249 | scoliosis | |
| DOID:0070260 | congenital disorder of glycosylation type IIh | |
| DOID:0080199 | colorectal carcinoma | |
| DOID:0080470 | developmental and epileptic encephalopathy 36 | |
| DOID:0080561 | congenital disorder of glycosylation Ii | |
| DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
| DOID:10534 | stomach cancer |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000253 | Progressive microcephaly |
| HP:0000286 | Epicanthus |
| HP:0000347 | Micrognathia |
| HP:0000565 | Esotropia |
| HP:0001137 | Alternating esotropia |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| Disease ID | Disease Name |
|---|---|
| ORPHA:95428 |
|
| OMIM:611182 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 176841 | WB:WBGene00019820 | ||
| 34571 | FB:FBgn0287204 | ||
| 103175985 | CALMI09096 | ||
| 102355067 | LATCH05953 | ||
| 541379 | ZFIN:ZDB-GENE-050320-74 | DANRE14565 | |
| 103044403 | ASTMX02584 | ||
| 113570885 | ELEEL01927 | ||
| 115203665 | SALTR80022 | ||
| 115558723 | GADMO12742 | ||
| 100712510 | ORENI33969 |
