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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
ALG2 alpha-1,3/1,6-mannosyltransferase
Summary
- Gene Symbol
-
- ALG2
- Aliases
-
- CDG1I
- CDGIi
- FLJ14511
- NET38
- hALPG2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Congenital disorder of glycosylation
- Congenital myasthenic syndrome
- Disease variant
- Endoplasmic reticulum
- Glycosyltransferase
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9H553 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein N-linked glycosylation | ||
| dolichol-linked oligosaccharide biosynthetic process | ||
| protein glycosylation | ||
| oligosaccharide-lipid intermediate biosynthetic process | ||
| response to calcium ion |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleus |
|
|
| cytoplasm |
|
|
| endoplasmic reticulum membrane | ||
| cytoplasmic side of endoplasmic reticulum membrane | ||
| membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| alpha-1,3-mannosyltransferase activity | ||
| GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity | ||
| calcium-dependent protein binding |
|
|
| protein binding | ||
| GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
GlycoGene Database (GGDB)
- GGDB ID
- gg143
- Gene Symbol
-
- ALG2
- Reactions
G65996GC
G53394BX
G43547MI
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Arabidopsis thaliana | NP_178001 | NM_106527 |
| Saccharomyces cerevisiae | CAA96768 | Z72587 |
| Rattus norvegicus | XP_232987 | XM_232987 |
| Drosophila melanogaster | NP_647772 | NM_139515 |
| Caenorhabditis elegans | NP_495010 | NM_062609 |
| Mus musculus | NP_064382 | NM_019998 |
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:11771 | spontaneous ocular nystagmus | |
| DOID:11832 | visual epilepsy | |
| DOID:11836 | clubfoot | |
| DOID:12270 | coloboma | |
| DOID:12506 | Bell's palsy | |
| DOID:13174 | dissociated nystagmus | |
| DOID:13934 | facial paralysis | |
| DOID:1432 | blindness | |
| DOID:1612 | breast cancer | |
| DOID:162 | cancer |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002240 | Hepatomegaly |
| HP:0002355 | Difficulty walking |
| HP:0002359 | Frequent falls |
| HP:0002421 | Poor head control |
| HP:0002460 | Distal muscle weakness |
| HP:0002515 | Waddling gait |
| HP:0002521 | Hypsarrhythmia |
| HP:0002650 | Scoliosis |
| HP:0002938 | Lumbar hyperlordosis |
| HP:0003186 | Inverted nipples |
| Disease ID | Disease Name |
|---|---|
| OMIM:616228 |
|
| ORPHA:353327 |
|
| OMIM:607906 |
|
| ORPHA:79326 |
|
PubChem Disease
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 113897243 | BOBOX32224 | ||
| 102526113 | VICPA07644 | ||
| 105873779 | MICMU11965 | ||
| 100953631 | OTOGA15701 | ||
| 101076494 | TAKRU45750 | ||
| 102015523 | CHILA06663 | ||
| 105712992 | AOTNA41974 | ||
| 110214538 | PHACI13108 | ||
| 101030903 | SAIBB32754 | ||
| 101963704 | ICTTR00661 |
