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component of oligomeric golgi complex 4
Summary
- Gene Symbol
-
- COG4
- Aliases
-
- COD1
- DKFZP586E1519
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Coiled coil
- Congenital disorder of glycosylation
- Cytoplasm
- Disease variant
- Dwarfism
- Golgi apparatus
- Membrane
- Phosphoprotein
- Protein transport
- Proteomics identification
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9H9E3 |
|
| J3KNI1 |
|
| Q8N8L9 |
|
| A0A0A0MS45 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi organization | ||
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | ||
| protein transport | ||
| retrograde transport, vesicle recycling within Golgi | ||
| glycosylation |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytosol | ||
| trans-Golgi network membrane |
|
|
| 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:0070262 | congenital disorder of glycosylation type IIj | |
| DOID:0080561 | congenital disorder of glycosylation Ii | |
| DOID:0110255 | cataract 5 multiple types | |
| DOID:0110414 | retinitis pigmentosa 3 | |
| DOID:0110462 | autosomal recessive nonsyndromic deafness 101 | |
| DOID:0110463 | autosomal recessive nonsyndromic deafness 102 | |
| DOID:0110464 | autosomal recessive nonsyndromic deafness 103 | |
| DOID:0110465 | autosomal recessive nonsyndromic deafness 104 | |
| DOID:0110466 | obsolete autosomal recessive nonsyndromic deafness 105 | |
| DOID:0110467 | autosomal recessive nonsyndromic deafness 12 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000260 | Wide anterior fontanel |
| HP:0000272 | Malar flattening |
| HP:0000340 | Sloping forehead |
| HP:0000347 | Micrognathia |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000444 | Convex nasal ridge |
| Disease ID | Disease Name |
|---|---|
| ORPHA:85172 |
|
| OMIM:613489 |
|
| ORPHA:263501 |
|
| OMIM:618150 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 117034521 | RHIFE01038 | ||
| 100231422 | TAEGU03138 | ||
| 101809066 | FICAL04614 | ||
| 103233161 | CHLSB14782 | ||
| 108527444 | RHIBE01785 | ||
| 104677819 | RHIRO12352 | ||
| 114601863 | PODMU33298 | ||
| 107586011 | SINGR18977 | ||
| 107593196 | SINGR06678 | ||
| 106823441 | EQUAS14491 |
