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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:0050570 | congenital disorder of glycosylation type I | |
| DOID:0050571 | congenital disorder of glycosylation type II | |
| DOID:0060249 | scoliosis | |
| DOID:0060260 | ptosis | |
| DOID:0060261 | congenital ptosis | |
| DOID:0080561 | congenital disorder of glycosylation Ii | |
| DOID:0110669 | congenital myasthenic syndrome 14 | |
| DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
| DOID:1029 | familial periodic paralysis | |
| DOID:1059 | intellectual disability |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000518 | Cataract |
| HP:0000565 | Esotropia |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000612 | Iris coloboma |
| HP:0000639 | Nystagmus |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000750 | Delayed speech and language development |
| HP:0000817 | Reduced eye contact |
| HP:0000821 | Hypothyroidism |
| HP:0001249 | Intellectual disability |
| Disease ID | Disease Name |
|---|---|
| OMIM:616228 |
|
| ORPHA:353327 |
|
| OMIM:607906 |
|
| ORPHA:79326 |
|
PubChem Disease
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 103253383 | CARSF14039 | ||
| 115604824 | STRHB14861 |
