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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
mannosidase alpha class 2C member 1
Summary
- Gene Symbol
-
- MAN2C1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Cobalt
- Cytoplasm
- Glycosidase
- Metal-binding
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9NTJ4 |
|
| A0A140VJN9 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| oligosaccharide catabolic process | ||
| mannose metabolic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytosol | ||
| nucleoplasm |
| GO Term | Evidence Code | PMID |
|---|---|---|
| alpha-mannosidase activity | ||
| metal ion binding | ||
| carbohydrate binding |
GO Hierarchy
Disease
- Disease Ontology
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000750 | Delayed speech and language development |
| HP:0000960 | Sacral dimple |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001270 | Motor delay |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001338 | Partial agenesis of the corpus callosum |
| HP:0001776 | Bilateral talipes equinovarus |
| HP:0001852 | Sandal gap |
| HP:0002000 | Short columella |
| Disease ID | Disease Name |
|---|---|
| OMIM:619775 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 611620 | CANLF12713 | ||
| 123790665 | URSAM05353 | ||
| 100478857 | AILME06685 | ||
| 101683957 | MUSPF10985 | ||
| 122221774 | PANLE19306 | ||
| 101336843 | TURTR06153 | ||
| 118890904 | BALMU29334 | ||
| 100061610 | HORSE17146 | ||
| 100156538 | PIGXX32021 | ||
| 541086 | BOVIN16624 |
