Structure
GO term
GO ontology
| GO term | GO description |
|---|---|---|
| Biological Process | GO:0006488 | dolichol-linked oligosaccharide biosynthetic process |
| Biological Process | GO:0006490 | oligosaccharide-lipid intermediate biosynthetic process |
| Biological Process | GO:0006486 | protein glycosylation |
| Biological Process | GO:0051592 | response to calcium ion |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005789 | endoplasmic reticulum membrane |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0048471 | perinuclear region of cytoplasm |
| Molecular Function | GO:0004378 | GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity |
Showing 1 to 10 of 14 entries
Reactome
| Reactome
| Reactome Name | Node type
| Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-446193 | Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | Internal node | R-HSA-392499 | Metabolism of proteins |
| R-HSA-4549349 | Defective ALG2 causes CDG-1i | Leaf | R-HSA-1643685 | Disease |
Showing 1 to 2 of 2 entries
Subcellular location
Interactor | Variant | Drug
Phenotype
| HPO ID
| HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000286 | Epicanthus |
| HP:0000369 | Low-set ears |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000431 | Wide nasal bridge |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000505 | Visual impairment |
| HP:0000508 | Ptosis |
Showing 1 to 10 of 100 entries
Tissue and cell type
| Tissue
| Cell type
| Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | Medium | Approved |
| bone marrow | hematopoietic cells | Low | Approved |
| bronchus | respiratory epithelial cells | Low | Approved |
| cerebral cortex | endothelial cells | Low | Approved |
| cerebral cortex | neuronal cells | Low | Approved |
| colon | glandular cells | Medium | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 1 | glandular cells | Medium | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
Showing 1 to 10 of 39 entries
Disease
| Disease name | MONDO ID
| ICD10
| ICD10 chapter
| OMIM
| Orphanet
|
|---|---|---|---|---|---|
| alg2-cdg | MONDO:0011933 | E77 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:607906 | Orphanet:79326 |
| congenital myasthenic syndrome 14 | MONDO:0014543 | G70 | chapter6, Diseases of the nervous system | OMIM:616228 |
Showing 1 to 2 of 2 entries