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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 |
|---|---|---|
| perinuclear region of cytoplasm |
|
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:0010864 | Intellectual disability, severe |
| HP:0011097 | Epileptic spasm |
| HP:0011344 | Severe global developmental delay |
| HP:0011463 | Childhood onset |
| HP:0012368 | Flat face |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0012469 | Infantile spasms |
| HP:0012520 | Dilation of Virchow-Robin spaces |
| HP:0012704 | Widened subarachnoid space |
| HP:0012751 | Abnormal basal ganglia MRI signal intensity |
| Disease ID | Disease Name |
|---|---|
| OMIM:616228 |
|
| ORPHA:353327 |
|
| OMIM:607906 |
|
| ORPHA:79326 |
|
PubChem Disease
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100471257 | AILME17125 | ||
| 101691293 | MUSPF15531 | ||
| 101084066 | FELCA30545 | ||
| 122205178 | PANLE25354 | ||
| 101320767 | TURTR08879 | ||
| 118896923 | BALMU13608 | ||
| 100655996 | LOXAF17289 | ||
| 100113423 | PIGXX15799 | ||
| 538899 | BOVIN34651 | ||
| 102172999 | CAPHI29200 |
